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1. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

Author: Antoniou, AC, Cunningham, AP, Peto, J, Evans, DG, Lalloo, F, Narod, SA, Risch, HA, Eyfjord, JE, Hopper, JL, Southey, MC, Olsson, H, Johannsson, O, Borg, A, Passini, B, Radice, P, Manoukian, S, Eccles, DM, Tang, N, Olah, E, Anton-Culver, H, Warner, E, Lubinski, J, Gronwald, J, Gorski, B, Tryggvadottir, L, Syrjakoski, K, Kallioniemi, O-P, Eerola, H, Nevanlinna, H, Pharoah, PDP, and Easton, DF
Subjects: Breast Cancer, Ovarian Cancer, Cancer, Genetics, Genetic Testing, Rare Diseases, Prevention, Aetiology, 2.1 Biological and endogenous factors, 2.2 Factors relating to the physical environment, 2.6 Resources and infrastructure (aetiology), Adult, Age Factors, Aged, Breast Neoplasms, Female, Genes, BRCA1, Genes, BRCA2, Genetic Carrier Screening, Genetic Predisposition to Disease, Humans, Middle Aged, Models, Genetic, Mutation, Neoplasms, Second Primary, Ovarian Neoplasms, BRCA1, BRCA2, cancer risk model, genetic testing, Oncology and Carcinogenesis, Public Health and Health Services, Oncology & Carcinogenesis
Abstract: Multiple genetic loci confer susceptibility to breast and ovarian cancers. We have previously developed a model (BOADICEA) under which susceptibility to breast cancer is explained by mutations in BRCA1 and BRCA2, as well as by the joint multiplicative effects of many genes (polygenic component). We have now updated BOADICEA using additional family data from two UK population-based studies of breast cancer and family data from BRCA1 and BRCA2 carriers identified by 22 population-based studies of breast or ovarian cancer. The combined data set includes 2785 families (301 BRCA1 positive and 236 BRCA2 positive). Incidences were smoothed using locally weighted regression techniques to avoid large variations between adjacent intervals. A birth cohort effect on the cancer risks was implemented, whereby each individual was assumed to develop cancer according to calendar period-specific incidences. The fitted model predicts that the average breast cancer risks in carriers increase in more recent birth cohorts. For example, the average cumulative breast cancer risk to age 70 years among BRCA1 carriers is 50% for women born in 1920-1929 and 58% among women born after 1950. The model was further extended to take into account the risks of male breast, prostate and pancreatic cancer, and to allow for the risk of multiple cancers. BOADICEA can be used to predict carrier probabilities and cancer risks to individuals with any family history, and has been implemented in a user-friendly Web-based program (http://www.srl.cam.ac.uk/genepi/boadicea/boadicea_home.html).
Published: 2008

2. Dietary pattern in late life and risk of breast cancer: Alfheidur Haraldsdottir

Author: Haraldsdottir, A, Torfadottir, JE, Birgisdottir, BE, Valdimarsdottir, UA, Aspelund, T, Tryggvadottir, L, Harris, TB, Launer, LJ, Gudnason, V, and Steingrimsdottir, L
Published: 2017
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3. Familial risk of non-Hodgkin lymphoma by sex, relationship, age at diagnosis and histology: a joint study from five Nordic countries

Author: Fallah, M, Kharazmi, E, Pukkala, E, Tretli, S, Olsen, J H, Tryggvadottir, L, Sundquist, K, and Hemminki, K
Published: 2016
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4. Early Life Events and Later Risk of Colorectal Cancer: Age-Period-Cohort Modelling in the Nordic Countries and Estonia

Author: Svensson, E., Møller, B., Tretli, S., Barlow, L., Engholm, G., Pukkala, E., Rahu, M., Tryggvadóttir, L., Langmark, F., and Grotmol, T.
Published: 2005
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5. Survival after antireflux surgery versus medication in patients with reflux oesophagitis or Barrett's oesophagus:multinational cohort study

Author: Yanes, M., Santoni, G., Maret-Ouda, J., Ness-Jensen, E., Farkkila, M., Lynge, E., Pukkala, E., Romundstad, P., Tryggvadottir, L., Chelpin, M. Von Euler, Lagergren, J., Yanes, M., Santoni, G., Maret-Ouda, J., Ness-Jensen, E., Farkkila, M., Lynge, E., Pukkala, E., Romundstad, P., Tryggvadottir, L., Chelpin, M. Von Euler, and Lagergren, J.
Abstract: Y Background: The aim was to examine the hypothesis that antireflux surgery with fundoplication improves long-term survival compared with antireflux medication in patients with reflux oesophagitis or Barrett's oesophagus.Method: Individuals aged between 18 and 70 years with reflux oesophagitis or Barrett's oesophagus (intestinal metaplasia) documented from in-hospital and specialized outpatient care were selected from national patient registries in Denmark, Finland, Iceland, and Sweden from 1980 to 2014. The study investigated all-cause mortality and disease-specific mortality, comparing patients who had undergone open or laparoscopic antireflux surgery with fundoplication versus those using antireflux medication. Multivariable Cox regression analysis was used to estimate hazard ratios (HRs) with 95 per cent confidence intervals for all-cause mortality and disease-specific mortality, adjusted for sex, age, calendar period, country, and co-morbidity.Results: Some 240 226 patients with reflux oesophagitis or Barrett's oesophagus were included, of whom 33 904 (14.1 per cent) underwent antireflux surgery. The risk of all-cause mortality was lower after antireflux surgery than with use of medication (HR 0.61, 95 per cent c.i. 0.58 to 0.63), and lower after laparoscopic (HR 0.56, 0.52 to 0.60) than open (HR 0.80, 0.70 to 0.91) surgery. After antireflux surgery, mortality was decreased from cardiovascular disease (HR 0.58, 0.55 to 0.61), respiratory disease (HR 0.62, 0.57 to 0.66), laryngeal or pharyngeal cancer (HR 0.35, 0.19 to 0.65), and lung cancer (HR 0.67, 0.58 to 0.80), but not from oesophageal cancer (HR 1.05, 0.87 to 1.28), compared with medication, The decreased mortality rates generally remained over time.Conclusion: In patients with reflux oesophagitis or Barrett's oesophagus, antireflux surgery is associated with lower mortality from all causes, cardiovascular disease, respiratory disease, laryngeal or pharyngeal cancer, and lung cancer
Published: 2021

6. Reintervention or mortality within 90 days of bariatric surgery:population-based cohort study

Author: Kauppila, J. H., Santoni, G., Tao, W., Lynges, E., Koivukangas, V, Tryggvadottir, L., Ness-Jensen, E., Romundstad, P., Pukkala, E., Von Euler-Chelpin, M., Lagergren, J., Kauppila, J. H., Santoni, G., Tao, W., Lynges, E., Koivukangas, V, Tryggvadottir, L., Ness-Jensen, E., Romundstad, P., Pukkala, E., Von Euler-Chelpin, M., and Lagergren, J.
Published: 2020

7. Cancer prevalence estimates in Europe at the beginning of 2000

Author: Gatta, G., Mallone, S., van der Zwan, J. M., Trama, A., Siesling, S., Capocaccia, R., Hackl, M, Van Eycken, E, Henau, K, Hedelin, G, Velten, M, Launoy, G, Guizard, AV, Bouvier, AM, Maynadié, M, Woronoff, A-S, Buemi, A, Colonna, M, Ganry, O, Grosclaude, P, Holleczek, B, Ziegler, H, Tryggvadottir, L, Bellù, F, Ferretti, S, Serraino, D, Dal Maso, L, Bidoli, E, Birri, S, Zucchetto, A, Zainer, L, Vercelli, M, Orengo, MA, Casella, C, Quaglia, A, Federico, M, Rashid, I, Cirilli, C, Fusco, M, Traina, A, Michiara, M, De Lisi, V, Bozzani, F, Giacomin, A, Tumino, R, La Rosa, MG, Spata, E, Signora, A, Mangone, L, Falcini, F, Giorgetti, S, Ravaioli, A, Senatore, G, Iannelli, A, Budroni, M, Piffer, S, Franchini, S, Crocetti, E, Caldarella, A, Intrieri, T, La Rosa, F, Stracci, F, Cassetti, T, Contiero, P, Tagliabue, G, Zambon, P, Guzzinati, S, Berrino, F, Baili, P, Bella, F, Ciampichini, R, Gatta, G, Margutti, C, Micheli, A, Minicozzi, P, Sant, M, Trama, A, Caldora, M, Capocaccia, R, Carrani, E, De Angelis, R, Francisci, S, Grande, E, Inghelmann, R, Lenz, H, Martina, L, Roazzi, P, Santaquilani, M, Simonetti, A, Tavilla, A, Verdecchia, A, Langmark, F, Rachtan, J, Mężyk, R, Góżdź, S., Siudowska, U, Zwierko, M, Bielska-Lasota, M, Safaei Diba, Ch., Primic-Zakelj, M, Mateos, A, Izarzugaza, I, Torrella Ramos, A, Zurriaga, O, Marcos-Gragera, R, Vilardell, ML, Izquierdo, A, Ardanaz, E, Moreno-Iribas, C, Galceran, J, Klint, Å, Talbäck, M, Jundt, G, Usel, M, Frick, H, Ess, SM, Bordoni, A, Konzelmann, I, Dehler, S, Siesling, S, Visser, O, Otter, R, Coebergh, JWW, Greenberg, DC, Wilkinson, J, Roche, M, Verne, J, Meechan, D, Poole, J, Lawrence, G, Gavin, A, Brewster, DH, Black, RJ, and Steward, JA
Published: 2013
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8. Reasons for low cervical cancer survival in new accession European Union countries: a EUROCARE-5 study

Author: Bielska-Lasota, M., Rossi, S., Krzyzak, M., Haelens, A., Domenic, A., De Angelis, R., Maciejczyk, A., Rodriguez-Barranco, M., Zadnik, V., Minicozzi, P., Hackl, M., Ihle, P., Vaneycken, E., Henau, K., Valerianova, Z., Dimitrova, N., Sekerija, M., Cukelj, P., Dusek, L., Zvolsky, M., Magi, M., Aareleid, T., Malila, N., Seppa, K., Velten, M., Guizard, A. V., Faivre, J., Woronoff, A. S., Tretarre, B., Bossard, N., Uhry, Z., Colonna, M., Molinie, F., Cowppli-Bony, A., Bara, S., Lapotre-Ledoux, B., Grosclaude, P., Stabenow, R., Luttmann, S., Eberle, A., Brenner, H., Nennecke, A., Engel, J., Schubert-Fritschle, G., Heidrich, J., Holleczek, B., Katalinic, A., Birgisson, H., Tryggvadottir, L., Clough-Gorr, K., Mazzoleni, G., Bulatko, A., Buzzoni, C., Suterasardo, A., Mancuso, P., Ferretti, S., Barchielli, A., Caldarella, A., Gatta, G., Sant, M., Amati, C., Baili, P., Berrino, F., Bonfarnuzzo, S., Botta, L., Capocaccia, R., Foschi, R., Margutti, C., Meneghini, E., Trama, A., Serraino, D., Dalmaso, L., Deangelis, R., Dibenedetto, C., Caldora, M., Francisci, S., Galati, F., Mallone, S., Pierannunzio, D., Tallon, M., Santaquilani, M., Tavilla, A., Pannozzo, F., Busco, S., Filiberti, R. A., Marani, E., Ricci, P., Spagnoli, G., Cirilli, C., Fusco, M., Vitale, M. F., Usala, M., Vitale, F., Mazzucco, W., Michiara, M., Zanetti, R., Rosso, S., Tumino, R., Mangone, L., Difelice, E., Russo, A. G., Andreano, A., Falcini, F., Caiazzo, A. L., Cesaraccio, R., Piffer, S., Madeddu, A., Tisano, F., Fanetti, A. C., Cometti, I., Candela, P., Scuderi, T., Stracci, F., Bianconi, F., Tagliabue, G., Contiero, P., Rugge, M., Zorzi, M., Pildava, S., Smailyte, G., Azzopardi, M., Calleja, N., Johannesen, T. B., Rachtan, J., Gozdz, S., Macek, P., Blaszczyk, J., Bebenek, M., Forjaz deLacerda, G., Bento, M. J., Antunes, L., Miranda, A., Mayer-da-Silva, A., Safaeidiba, C., Primic-Zakelj, M., Lopez deMunain, A., Gil, L., Diazgarcia, J. M., Marcos-Navarro, A. I., Marcos-Gragera, R., Puigdemont, M., Sanchez, M. J., Chang, D. Y. L., Chirlaque, M. D., Ardanaz, E., Guevara, M., Galceran, J., Carulla, M., Lambe, M., Khan, S., Staehelin, K., Bouchardy, C., Fournier, E., Mousavi, S. M., Ess, S. M., Lorez, M., Mousavi, M., Herrmann, C., Bordoni, A., Spitale, A., Konzelmann, I., Visser, O., Aarts, M., Otter, R., Coleman, M., Allemani, C., Rachet, B., Rashbass, J., Broggio, J., Verne, J., Gavin, A., Donnelly, D., Morrison, D., Black, R., Huws, D. W., Thomas, R., Bielska‑Lasota, M, Rossi, S, Krzyżak, M, Haelens, A, Domenic, A, De Angelis, R, Maciejczyk, A, Rodríguez‑Barranco, M, Zadnik, V, Minicozzi, P, Vitale, F, and Mazzucco, W
Subjects: Morphology, Adult, Male, Stage at diagnosi, Survival, Adolescent, Socio-culturale, Uterine Cervical Neoplasms, Disease, Settore MED/42 - Igiene Generale E Applicata, 03 medical and health sciences, 0302 clinical medicine, Medicine, media_common.cataloged_instance, Humans, European Union, European union, Survival rate, Population-based study, media_common, Aged, Retrospective Studies, Cervical cancer, Aged, 80 and over, Cervical cancer, Europe, Morphology, Population-based study, Stage at diagnosis, Survival, 030219 obstetrics & reproductive medicine, Relative survival, business.industry, Absolute risk reduction, Obstetrics and Gynecology, Retrospective cohort study, Stage at diagnosis, General Medicine, Middle Aged, medicine.disease, Europe, Eastern european, Survival Rate, 030220 oncology & carcinogenesis, Female, business, Demography
Abstract: Purpose: With better access to early diagnosis and appropriate treatment, cervical cancer (CC) burden decreased in several European countries. In Eastern European (EE) countries, which accessed European Union in 2004, CC survival was worse than in the rest of Europe. The present study investigates CC survival differences across five European regions, considering stage at diagnosis (local, regional and metastatic), morphology (mainly squamous versus glandular tumours) and patients’ age. Methods: We analysed 101,714 CC women diagnosed in 2000–2007 and followed-up to December 2008. Age-standardised 5-year relative survival (RS) and the excess risks of cancer death in the 5years after diagnosis were computed. Results: EE women were older and less commonly diagnosed with glandular tumours. Proportions of local stage cancers were similar across Europe, while morphology- and stage-specific RS (especially for non-metastatic disease) were lower in Eastern Europe. Adjusting for age and morphology, excess risk of local stage CC death for EE patients remained higher than that for other European women. Conclusion: Stage, age and morphology alone do not explain worse survival in Eastern Europe: less effective care may play a role, probably partly due to fewer or inadequate resources being allocated to health care in this area, compared to the rest of Europe.
Published: 2019

9. Cancer prevalence in Northern Europe: the EUROPREVAL study

Author: Möller, T., Anderson, H., Aareleid, T., Hakulinen, T., Storm, H., Tryggvadottir, L., Corazziari, I., and Mugno, E.
Published: 2003

10. The effect of a single BRCA2 mutation on cancer in Iceland

Author: Tulinius, H, Olafsdottir, G H, Sigvaldason, H, Arason, A, Barkardottir, R B, Egilsson, V, Ogmundsdottir, H M, Tryggvadottir, L, Gudlaugsdottir, S, and Eyfjord, J E
Published: 2002

11. Intracellular location of BRCA2 protein expression and prostate cancer progression in the Swedish Watchful Waiting Cohort

Author: Thorgeirsson T, Jordahl KM, Flavin R, Epstein MM, Andersson SO, Andren O, Rider JR, Mosquera JM, Ingoldsby H, Fall K, Tryggvadottir L, Mucci LA, Transdisciplinary Prostate Cancer Partnership, FIORENTINO, MICHELANGELO, Thorgeirsson T, Jordahl KM, Flavin R, Epstein MM, Fiorentino M, Andersson SO, Andren O, Rider JR, Mosquera JM, Ingoldsby H, Fall K, Tryggvadottir L, Mucci LA, and Transdisciplinary Prostate Cancer Partnership (ToPCaP)
Subjects: Male, 0301 basic medicine, Oncology, Cytoplasm, Cancer Research, medicine.medical_specialty, Pathology, medicine.medical_treatment, Original Manuscript, localization, Cohort Studies, 03 medical and health sciences, Prostate cancer, 0302 clinical medicine, Internal medicine, mental disorders, Biomarkers, Tumor, medicine, Humans, Watchful Waiting, mutation carriers, Aged, Aged, 80 and over, BRCA2 Protein, Cell Nucleus, Tissue microarray, business.industry, Cell Membrane, Case-control study, Prostatic Neoplasms, General Medicine, Odds ratio, Middle Aged, Prognosis, medicine.disease, Immunohistochemistry, 030104 developmental biology, Prostate cancer, BRCA2, Tissue Array Analysis, Case-Control Studies, 030220 oncology & carcinogenesis, Cohort, Disease Progression, business, psychological phenomena and processes, Watchful waiting, Cohort study
Abstract: We found association between prognosis of prostate cancer patients and positive staining for the BRCA2 protein in diagnostic cancer tissue. Positive staining at the cell membrane was associated with improved survival whereas staining in the cytoplasm predicted adverse outcome.Prostate cancer patients with inherited BRCA2 mutations have a survival disadvantage. However, it is unknown whether progression is associated with BRCA2 protein expression in diagnostic prostate cancer tissue, among men without inherited mutations. We conducted a nested case-control study within the Swedish Watchful Waiting cohort. The case group included all 71 patients who died from prostate cancer within 5 years from diagnosis and controls were all patients (n = 165) who lived at least 7 years after diagnosis. Tissue microarrays were stained using antibodies for C- and N-terminal domains of the BRCA2 protein. Location (nuclear, cytoplasmic and membranous) and magnitude (intensity and percentage) of expression were assessed. Logistic regression models produced odds ratios (OR) and 95% confidence intervals (CI) adjusted for age, year of diagnosis and Gleason score. Positive BRCA2 staining at the cell membrane was associated with reduced risk of death within 5 years (N-terminal: OR = 0.47, 95% CI = 0.21-1.04, P = 0.06; C-terminal: OR = 0.41, 95% CI = 0.18-0.91, P = 0.03) and low Gleason scores (P = 0.006). Positive cytoplasmic C-terminal staining was associated with higher Gleason scores and increased lethality (OR = 3.61, 95% CI = 1.61-8.07, P = 0.002). BRCA2 protein expression at the cell membrane and lack of C-terminal expression in the cytoplasm were associated with a reduced risk of rapidly fatal prostate cancer. BRCA2 protein expression in prostate cancer tissue may have independent prognostic value. The potential biological significance of BRCA2 expression at the cell membrane warrants further investigation.
Published: 2016

12. Changing geographical patterns and trends in cancer incidence in children and adolescents in Europe, 1991–2010 (Automated Childhood Cancer Information System): a population-based study

Author: Steliarova-Foucher, E. (Eva), Fidler, M.M. (Miranda M), Colombet, M. (Murielle), Lacour, B. (Brigitte), Kaatsch, P. (Peter), Piñeros, M. (Marion), Soerjomataram, I. (Isabelle), Bray, F. (Freddie), Coebergh, J.W. (Jan Willem), Peris-Bonet, R. (Rafael), Stiller, C. (C.), Hackl, M. (Monika), Zborovskaya, A. (Anna), Dimitrova, N. (Nadya), Valerianova, Z. (Zdravka), Dušek, L. (Ladislav), Magi, M. (Margit), Monnereau, A. (Alain), Clavel, J., Velten, M. (Michel), Guizard, A.-V. (Anne-Valérie), Bouvier, V. (Véronique), Troussard, X. (Xavier), Woronoff, A.-S. (Anne-Sophie), Marrer, E. (Emilie), Trétarre, B. (Brigitte), Colonna, M. (M.), Ganry, O. (Olivier), Grosclaude, P. (P.), Holleczek, B. (B.), Jakab, Z. (Zsuzsanna), Tryggvadottir, L. (Laufey), Mangone, L. (Lucia), Merletti, F. (Franco), Ferretti, S. (Stefano), Caruso, B. (Bianca), Michiara, M. (Maria), Tumino, R. (Rosario), Falcini, F. (Fabio), Zanetti, R. (Roberto), Tagliabue, G. (Giovanna), Visser, O.J. (Otto), Ursin, G. (Giske), Mężyk, R. (Ryszard), Kepska, K. (Kamila), Laranja Pontes, J. (José), Primic-Žakelj, M. (Maja), Fernández-Delgado, R. (Rafael), Vicente Raneda, M.L. (Marisa L), Almar Marqués, E. (Enrique), Quirós Garcia, J.R. (José Ramón), Lopez de Munain, A. (Arantza), Marcos-Gragera, R. (R.), Sanchez-Perez, M.-J. (Maria-Jose), Ramos Monserrat, M. (Maria), Ardanaz, E. (Eva), Galceran, J. (J.), Khan, S. (Staffan), Kuehni, C. (Claudia), Bouchardy, C. (C.), Levi, F. (Fabio), Konzelmann, I. (Isabelle), Rohrmann, S. (Sabine), Vernon, S. (Sally), Brewster, D.H. (David H), White, C. (Ceri), Dolya, A. (Anastasia), Steliarova-Foucher, E. (Eva), Fidler, M.M. (Miranda M), Colombet, M. (Murielle), Lacour, B. (Brigitte), Kaatsch, P. (Peter), Piñeros, M. (Marion), Soerjomataram, I. (Isabelle), Bray, F. (Freddie), Coebergh, J.W. (Jan Willem), Peris-Bonet, R. (Rafael), Stiller, C. (C.), Hackl, M. (Monika), Zborovskaya, A. (Anna), Dimitrova, N. (Nadya), Valerianova, Z. (Zdravka), Dušek, L. (Ladislav), Magi, M. (Margit), Monnereau, A. (Alain), Clavel, J., Velten, M. (Michel), Guizard, A.-V. (Anne-Valérie), Bouvier, V. (Véronique), Troussard, X. (Xavier), Woronoff, A.-S. (Anne-Sophie), Marrer, E. (Emilie), Trétarre, B. (Brigitte), Colonna, M. (M.), Ganry, O. (Olivier), Grosclaude, P. (P.), Holleczek, B. (B.), Jakab, Z. (Zsuzsanna), Tryggvadottir, L. (Laufey), Mangone, L. (Lucia), Merletti, F. (Franco), Ferretti, S. (Stefano), Caruso, B. (Bianca), Michiara, M. (Maria), Tumino, R. (Rosario), Falcini, F. (Fabio), Zanetti, R. (Roberto), Tagliabue, G. (Giovanna), Visser, O.J. (Otto), Ursin, G. (Giske), Mężyk, R. (Ryszard), Kepska, K. (Kamila), Laranja Pontes, J. (José), Primic-Žakelj, M. (Maja), Fernández-Delgado, R. (Rafael), Vicente Raneda, M.L. (Marisa L), Almar Marqués, E. (Enrique), Quirós Garcia, J.R. (José Ramón), Lopez de Munain, A. (Arantza), Marcos-Gragera, R. (R.), Sanchez-Perez, M.-J. (Maria-Jose), Ramos Monserrat, M. (Maria), Ardanaz, E. (Eva), Galceran, J. (J.), Khan, S. (Staffan), Kuehni, C. (Claudia), Bouchardy, C. (C.), Levi, F. (Fabio), Konzelmann, I. (Isabelle), Rohrmann, S. (Sabine), Vernon, S. (Sally), Brewster, D.H. (David H), White, C. (Ceri), and Dolya, A. (Anastasia)
Abstract: Background: A deceleration in the increase in cancer incidence in children and adolescents has been reported in several national and regional studies in Europe. Based on a large database representing 1·3 billion person-years over the period 1991–2010, we provide a consolidated report on cancer incidence trends at ages 0–19 years. Methods: We invited all population-based cancer registries operating in European countries to participate in this population-based registry study. We requested a listing of individual records of cancer cases, including sex, age, date of birth, date of cancer diagnosis, tumour sequence number, primary site, morphology, behaviour, and the most valid basis of diagnosis. We also requested population counts in each calendar year by sex and age for the registration area, from official national sources, and specific information about the covered area and registration practices. An eligible registry could become a contributor if it provided quality data for all complete calendar years in the period 1991–2010. Incidence rates and the average annual percentage change with 95% CIs were reported for all cancers and major diagnostic groups, by region and overall, separately for children (age 0–14 years) and adolescents (age 15–19 years). We examined and quantified the stability of the trends with joinpoint analyses. Findings: For the years 1991–2010, 53 registries in 19 countries contributed a total of 180 335 unique cases. We excluded 15 162 (8·4%) of 180 335 cases due to differing practices of registration, and considered the quality indicators for the 165 173 cases included to be satisfactory. The average annual age-standardised incidence was 137·5 (95% CI 136·7–138·3) per million person-years and incidence increased significantly by 0·54% (0·44–0·65) per year in children (age 0–14 years) with no change in trend. In adolescents, the combined European incidence was 176·2 (174·4–178·0) per million person-years based on all 35 138 eligible cases and inc
Published: 2018
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13. Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin

Author: Rafnar, T., Sigurjonsdottir, G.R., Stacey, S.N., Halldorsson, G., Sulem, P., Pardo, L.M., Helgason, H., Sigurdsson, S.T., Gudjonsson, T., Tryggvadottir, L., Olafsdottir, G.H., Jonasson, J.G., Alexiusdottir, K., Sigurdsson, A., Gudmundsson, J., Saemundsdottir, J., Sigurdsson, J.K., Johannsdottir, H., Uitterlinden, A., Vermeulen, S.H., Galesloot, T.E., Allain, D.C., Lacko, M., Sigurgeirsson, B., Thorisdottir, K., Johannsson, O.T., Sigurdsson, F., Ragnarsson, G.B., Isaksson, H., Hardardottir, H., Gudbjartsson, T., Gudbjartsson, D.F., Masson, G., Kiemeney, B., Toland, A.E., Nijsten, T., Peters, W.H.M., Olafsson, J.H., Jonsson, S., Thorsteinsdottir, U., Thorleifsson, G., Stefansson, K., Rafnar, T., Sigurjonsdottir, G.R., Stacey, S.N., Halldorsson, G., Sulem, P., Pardo, L.M., Helgason, H., Sigurdsson, S.T., Gudjonsson, T., Tryggvadottir, L., Olafsdottir, G.H., Jonasson, J.G., Alexiusdottir, K., Sigurdsson, A., Gudmundsson, J., Saemundsdottir, J., Sigurdsson, J.K., Johannsdottir, H., Uitterlinden, A., Vermeulen, S.H., Galesloot, T.E., Allain, D.C., Lacko, M., Sigurgeirsson, B., Thorisdottir, K., Johannsson, O.T., Sigurdsson, F., Ragnarsson, G.B., Isaksson, H., Hardardottir, H., Gudbjartsson, T., Gudbjartsson, D.F., Masson, G., Kiemeney, B., Toland, A.E., Nijsten, T., Peters, W.H.M., Olafsson, J.H., Jonsson, S., Thorsteinsdottir, U., Thorleifsson, G., and Stefansson, K.
Abstract: Contains fulltext : 195644.pdf (publisher's version ) (Closed access), Background: Most pathogenic mutations in the BRCA2 gene carry a high risk of hereditary breast and ovarian cancer (HBOC). However, a stop-gain mutation, K3326* (rs11571833), confers risk of lung cancer and cancers of the upper-aero-digestive tract but only a modest risk of breast or ovarian cancer. The Icelandic population provides an opportunity for comprehensive characterization of the cancer risk profiles of K3326* and HBOC mutations because a single mutation, BRCA2 999del5, is responsible for almost all BRCA2-related HBOC in the population. Methods: Genotype information on 43 641 cancer patients and 370 971 control subjects from Iceland, the Netherlands, and the United States was used to assess the cancer risk profiles of K3326* and BRCA2 999del5. BRCA2 expression was assessed using RNAseq data from blood (n = 2233), as well as 52 tissues reported in the GTEx database. Results: The cancer risks associated with K3326* are fundamentally different from those associated with 999del5. We report for the first time an association between K3326* and small cell lung cancer (odds ratio [OR] = 2.06, 95% confidence interval [CI] = 1.35 to 3.16) and squamous cell carcinoma of the skin (OR = 1.69, 95% CI = 1.26 to 2.26). Individuals homozygous for K3326* reach old age and have children. Unlike BRCA2 999del5, the K3326* allele does not affect the level of BRCA2 transcripts, and the allele is expressed to the same extent as the wild-type allele. Conclusions: K3326* associates primarily with cancers that have strong environmental genotoxic risk factors. Expression of the K3326* allele suggests that a variant protein may be made that retains the DNA repair capabilities important to hormone-responsive tissues but may be less efficient in responding to genotoxic stress.
Published: 2018

14. Osteoporotic Fractures in Childhood Cancer Survivors - ALICCS Cohort Study

Author: Oskarsson, T., Duun-Henriksen, A. K., Harila-Saari, A., Montgomery, Scott, Niinimaki, R., Madanat-Harjuoja, L., Tryggvadottir, L., Wesenberg, F., Holmqvist, A. S., Hasle, H., Heyman, M., Winther, J. F., Oskarsson, T., Duun-Henriksen, A. K., Harila-Saari, A., Montgomery, Scott, Niinimaki, R., Madanat-Harjuoja, L., Tryggvadottir, L., Wesenberg, F., Holmqvist, A. S., Hasle, H., Heyman, M., and Winther, J. F.
Abstract: Background/Objectives: Children and adolescents undergoing treatment for cancer are exposed to multiple factors that impact the development of peak bone mass and bone quality. The aims of this study were to examine the risks and cumulative incidence of osteoporotic fractures in childhood cancer survivors and identify subgroups at higher risk. Design/Methods: In the national cancer registries of Denmark, Finland, Iceland and Sweden we identified patients diagnosed with cancer before 20 years of age from the start of registration in the 1940s and 1950s through 2008. We compared 26.334 one‐year survivors with a cohort of 162.372 age‐ and sex‐matched population comparison subjects selected from the national population registries. With data derived from national hospital registries we estimated the standardized hospitalization rate ratios (SHRR) and the mean cumulative count (MCC) of hospital admissions for osteoporotic fractures. To identify subgroups at risk we used Cox regression models to generate hazard ratios (HR) for osteoporotic fractures. Death and new cancer were treated as competing risks. Results: The estimated SHRR for the first osteoporotic fracture was 1.41 (95% CI; 1.27‐1.58) but the MCC for recurrent osteoporotic fractures did not differ between the survivors and the comparison group. The SHRR for isolated hip fractures was 2.90 (2.32‐3.63). The adjusted HR for osteoporotic fracture as the first event was 1.53 (1.09‐2.16) if cancer was diagnosed 15‐19 years and 2.10 (1.48‐2.98) for long‐term survivors of CNS tumors. Survivors 15‐19 years at cancer diagnosis and long‐term survivors of CNS tumors were also at higher risk of experiencing a second fracture, HR 3.29 (1.65‐6.55) and HR 2.71 (1.45‐5.05), respectively. Conclusions: Childhood cancer survivors are at higher risk of being hospitalized for osteoporotic fractures but the burden of recurrent fractures is not higher. For subgroups at risk, surveillance of bone health and measures to increase bone stren
Published: 2018

15. New genetic loci link adipose and insulin biology to body fat distribution

Author: Shungin, D, Winkler, T, Croteau Chonka, D, Ferreira, T, Locke, A, Mägi, R, Strawbridge, R, Pers, T, Fischer, K, Justice, A, Workalemahu, T, Wu, J, Buchkovich, M, Heard Costa, N, Roman, T, Drong, A, Song, C, Gustafsson, S, Day, F, Esko, T, Fall, T, Kutalik, Z, Luan, J, Randall, J, Scherag, A, Vedantam, S, Wood, A, Chen, J, Fehrmann, R, Karjalainen, J, Kahali, B, Liu, C, Schmidt, E, Absher, D, Amin, N, Anderson, D, Beekman, M, Bragg Gresham, J, Buyske, S, Demirkan, A, Ehret, G, Feitosa, M, Goel, A, Jackson, A, Johnson, T, Kleber, M, Kristiansson, K, Mangino, M, Leach, I, Medina Gomez, C, Palmer, C, Pasko, D, Pechlivanis, S, Peters, M, Prokopenko, I, Stanca'Kova', A, Sung, Y, Tanaka, T, Teumer, A, Van Vliet Ostaptchouk, J, Yengo, L, Zhang, W, Albrecht, E, Ärnlöv, J, Arscott, G, Bandinelli, S, Barrett, A, Bellis, C, Bennett, A, Berne, C, Blüher, M, Böhringer, S, Bonnet, F, Böttcher, Y, Bruinenberg, M, Carba, D, Caspersen, I, Clarke, R, Daw, E, Deelen, J, Deelman, E, Delgado, G, Doney, A, Eklund, N, Erdos, M, Estrada, K, Eury, E, Friedrich, N, Garcia, M, Giedraitis, V, Gigante, B, Go, A, Golay, A, Grallert, H, Grammer, T, Gräsler, J, Grewal, J, Groves, C, Haller, T, Hallmans, G, Hartman, C, Hassinen, M, Hayward, C, Heikkilä, K, Herzig, K, Helmer, Q, Hillege, H, Holmen, O, Hunt, S, Isaacs, A, Ittermann, T, James, A, Johansson, I, Juliusdottir, T, Kalafati, I, Kinnunen, L, Koenig, W, Kooner, I, Kratzer, W, Lamina, C, Leander, K, Lee, N, Lichtner, P, Lind, L, Lindström, J, Lobbens, S, Lorentzon, M, Mach, F, Magnusson, P, Mahajan, A, Mcardle, W, Menni, C, Merger, S, Mihailov, E, Milani, L, Mills, R, Moayyeri, A, Monda, K, Mooijaart, S, Mühleisen, T, Mulas, A, Müller, G, Müller Nurasyid, M, Nagaraja, R, Nalls, M, Narisu, N, Glorioso, N, Nolte, I, Olden, M, Rayner, N, Renstrom, F, Ried, J, Robertson, N, Rose, L, Sanna, S, Scharnagl, H, Scholtens, S, Sennblad, B, Seufferlein, T, Sitlani, C, Smith, A, Stirrups, K, Stringham, H, Sundström, J, Swertz, M, Swift, A, Syvänen, A, Tayo, B, Thorand, B, Thorleifsson, G, Tomaschitz, A, Troffa, C, Van Oort, F, Verweij, N, Vonk, J, Waite, L, Wennauer, R, Wilsgaard, T, Wojczynski, M, Wong, A, Zhang, Q, Zhao, J, Brennan, E, Choi, M, Eriksson, P, Folkersen, L, Franco Cereceda, A, Gharavi, A, Hedman, A, Hivert, M, Huang, J, Kanoni, S, Karpe, F, Keildson, S, Kiryluk, K, Liang, L, Lifton, R, Ma, B, Mcknight, A, Mcpherson, R, Metspalu, A, Min, J, Moffatt, M, Montgomery, G, Murabito, J, Nicholson, G, Nyholt, D, Olsson, C, Perry, J, Reinmaa, E, Salem, R, Sandholm, N, Schadt, E, Scott, R, Stolk, L, Vallejo, E, Westra, H, Zondervan, K, Amouyel, P, Arveiler, D, Bakker, S, Beilby, J, Bergman, R, Blangero, J, Brown, M, Burnier, M, Campbell, H, Chakravarti, A, Chines, P, Claudi Boehm, S, Collins, F, Crawford, D, Danesh, J, De Faire, U, De Geus, E, Dörr, M, Erbel, R, Eriksson, J, Farrall, M, Ferrannini, E, Ferrières, J, Forouhi, N, Forrester, T, Franco, O, Gansevoort, R, Gieger, C, Gudnason, V, Haiman, C, Harris, T, Hattersley, A, Heliövaara, M, Hicks, A, Hingorani, A, Hoffmann, W, Hofman, A, Homuth, G, Humphries, S, Hyppönen, E, Illig, T, Jarvelin, M, Johansen, B, Jousilahti, P, Jula, A, Kaprio, J, Kee, F, Keinanen Kiukaanniemi, S, Kooner, J, Kooperberg, C, Kovacs, P, Kraja, A, Kumari, M, Kuulasmaa, K, Kuusisto, J, Lakka, T, Langenberg, C, Le Marchand, L, Lehtimäki, T, Lyssenko, V, Männistö, S, Marette, A, Matise, T, Mckenzie, C, Mcknight, B, Musk, A, Möhlenkamp, S, Morris, A, Nelis, M, Ohlsson, C, Oldehinkel, A, Ong, K, Palmer, L, Penninx, B, Peters, A, Pramstaller, P, Raitakari, O, Rankinen, T, Rao, D, Rice, T, Ridker, P, Ritchie, M, Rudan, I, Salomaa, V, Samani, N, Saramies, J, Sarzynski, M, Schwarz, P, Shuldiner, A, Staessen, J, Steinthorsdottir, V, Stolk, R, Strauch, K, Tönjes, A, Tremblay, A, Tremoli, E, Vohl, M, Völker, U, Vollenweider, P, Wilson, J, Witteman, J, Adair, L, Bochud, M, Boehm, B, Bornstein, S, Bouchard, C, Cauchi, S, Caulfield, M, Chambers, J, Chasman, D, 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Abstract: Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, we conducted genome-wide association meta-analyses of waist and hip circumference-related traits in up to 224,459 individuals. We identified 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (WHRadjBMI) and an additional 19 loci newly associated with related waist and hip circumference measures (P<5×10-8). Twenty of the 49 WHRadjBMI loci showed significant sexual dimorphism, 19 of which displayed a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation, and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
Published: 2015

16. Genetic studies of body mass index yield new insights for obesity biology

Author: Locke, A, Kahali, B, Berndt, S, Justice, A, Pers, T, Day, F, Powell, C, Vedantam, S, Buchkovich, M, Yang, J, Croteau-Chonka, D, Esko, T, Fall, T, Ferreira, T, Gustafsson, S, Kutalik, Z, Luan, J, Magi, R, Randall, J, Winkler, T, Wood, A, Workalemahu, T, Faul, J, Smith, J, Zhao, J, Zhao, W, Chen, J, Fehrmann, R, Hedman, A, Karjalainen, J, Schmidt, E, Absher, D, Amin, N, Anderson, D, Beekman, M, Bolton, J, Bragg-Gresham, J, Buyske, S, Demirkan, A, Deng, G, Ehret, G, Feenstra, B, Feitosa, M, Fischer, K, Goel, A, Gong, J, Jackson, A, Kanoni, S, Kleber, M, Kristiansson, K, Lim, U, Lotay, V, Mangino, M, Leach, I, Medina-Gomez, C, Medland, S, Nalls, M, Palmer, C, Pasko, D, Pechlivanis, S, Peters, M, Prokopenko, I, Shungin, D, Stancakova, A, Strawbridge, R, Sung, Y, Tanaka, T, Teumer, A, Trompet, S, van der Laan, S, van Setten, J, Van Vliet-Ostaptchouk, J, Wang, Z, Yengo, L, Zhang, W, Isaacs, A, Albrecht, E, Arnlov, J, Arscott, G, Attwood, A, Bandinelli, S, Barrett, A, Bas, I, Bellis, C, Bennett, A, Berne, C, Blagieva, R, Bluher, M, Bohringer, S, Bonnycastle, L, Bottcher, Y, Boyd, H, Bruinenberg, M, Caspersen, I, Chen, Y, Clarke, R, Daw, E, de Craen, A, Delgado, G, Dimitriou, M, Doney, A, Eklund, N, Estrada, K, Eury, E, Folkersen, L, Fraser, R, Garcia, M, Geller, F, Giedraitis, V, Gigante, B, Go, A, Golay, A, Goodall, A, Gordon, S, Gorski, M, Grabe, H, Grallert, H, Grammer, T, Grassler, J, Gronberg, H, Groves, C, Gusto, G, Haessler, J, Hall, P, Haller, T, Hallmans, G, Hartman, C, Hassinen, M, Hayward, C, Heard-Costa, N, Helmer, Q, Hengstenberg, C, Holmen, O, Hottenga, J, James, A, Jeff, J, Johansson, A, Jolley, J, Juliusdottir, T, Kinnunen, L, Koenig, W, Koskenvuo, M, Kratzer, W, Laitinen, J, Lamina, C, Leander, K, Lee, N, Lichtner, P, Lind, L, Lindstrom, J, Lo, K, Lobbens, S, Lorbeer, R, Lu, Y, Mach, F, Magnusson, P, Mahajan, A, Mcardle, W, Mclachlan, S, Menni, C, Merger, S, Mihailov, E, Milani, L, Moayyeri, A, Monda, K, Morken, M, Mulas, A, Muller, G, 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M., Adam M., Thun G. A., Paulweber B., Haun M., Sala C., Metzger M., Mitchell P., Ciullo M., Kim S. K., Vollenweider P., Palmer C., Gasparini P., Pirastu M., Probst-Hensch N. M., Kronenberg F., Toniolo D., Coresh J., Schmidt R., Siscovick D. S., Kardia S. L., Curhan G., Franke A., Parsa A., Goessling W., Kao W. H., de Boer I. H., Peralta C. A., Akylbekova E., Kramer H., Arking D. E., Franceschini N., Egan J., Hernandez D. G., Townsend R. R., Lumley T., Psaty B. M., Kestenbaum B., Haritunians T., Mooser V., Florez J. C., Meigs J. B., Lu X., Leak T. S., Aasarod K., Skorpen F., Baumert J., Devuyst O., Mychaleckyj J. C., Kedenko L., Coassin S., Hallan S., Navis G., Shlipak M. G., Bull S. B., Paterson A. D., Rotter J. I., Dreisbach A. W., Anderson C. A., Guo Q., Henders A., Lambert A., Lee S. H., Kraft P., Kennedy S. H., Macgregor S., Missmer S. A., Painter J. N., Roseman F., Treloar S. A., Wallace L., Forsblom C., Isakova T., McKay G. J., Williams W. W., Sadlier D. M., Makinen V. P., Swan E. J., Boright A. P., Ahlqvist E., Keller B. J., Huang H., Ahola A., Fagerholm E., Gordin D., Harjutsalo V., He B., Heikkila O., Hietala K., Kyto J., Lahermo P., Lehto M., Osterholm A. M., Parkkonen M., Pitkaniemi J., Rosengard-Barlund M., Saraheimo M., Sarti C., Soderlund J., Soro-Paavonen A., Syreeni A., Thorn L. M., Tikkanen H., Tolonen N., Tryggvason K., Waden J., Gill G. V., Prior S., Guiducci C., Mirel D. B., Taylor A., Hosseini M., Parving H. H., Rossing P., Tarnow L., Ladenvall C., Alhenc-Gelas F., Lefebvre P., Rigalleau V., Roussel R., Maestroni A., Maestroni S., Falhammar H., Gu T., Mollsten A., Cimponeriu D., Mihai I., Mota M., Mota E., Serafinceanu C., Stavarachi M., Hanson R. L., Nelson R. G., Kretzler M., Panduru N. M., Gu H. F., Brismar K., Zerbini G., Hadjadj S., Marre M., Lajer M., Waggott D., Savage D. A., Bain S. C., Martin F., Godson C., Groop P. H., Maxwell A. P., Sengupta S., Peloso G. M., Ganna A., Mora S., Chang H. Y., Den Hertog H. M., Donnelly L. A., Freitag D. F., Gurdasani D., Heikkila K., Johnson T., Kaakinen M., Kettunen J., Li X., Montasser M. E., Petersen A. K., Saxena R., Service S. K., Sidore C., Surakka I., Teslovich T. M., Van den Herik E. G., Volcik K. A., Wu Y., Asiki G., Been L. F., Burnett M. S., Elliott P., Eyjolfsson G. I., Goodarzi M. O., Gravito M. L., Hartikainen A. L., Hung Y. J., Jones M. R., Kaleebu P., Khaw K. T., Kim E., Komulainen P., Lin S. Y., Narisu N., Nieminen T. V., Nsubuga R. N., Olafsson I., Palotie A., Papamarkou T., Pomilla C., Pouta A., Ruokonen A., Seeley J., Silander K., Tiret L., van Pelt L., Wainwright N., Wijmenga C., Young E. H., Bennett F., Boomsma D. I., Burnier M., Chen Y. D., Feranil A. B., Freimer N. B., Hsiung C. A., Kesaniemi A., Koudstaal P. J., Krauss R. M., Kyvik K. O., Meneton P., Moilanen L., Sanghera D. K., Sheu W. H., Whitfield J. B., Wolffenbuttel B. H., Ordovas J. M., Rich S. S., Johnson A., Johnson L., Larson M., Levy D., Newton-Cheh C., O'reilly P., Palmas W., Rice K., Smith A., Snider H., Tobin M., Verwoert G., Rice K. M., Verwoert G. C., Pihur V., Heath S., Sober S., Arora P., Zhang F., Lucas G., Milaneschi Y., Parker A. N., Fava C., Fox E. R., Go M. J., Sjogren M., Vinay D., Alexander M., Tabara Y., Shaw-Hawkins S., Whincup P. H., Shi G., Seielstad M., Sim X., Nguyen K. D., Matullo G., Gaunt T. R., Onland-Moret N. C., Cooper M. N., Platou C. G., Org E., Hardy R., Dahgam S., Palmen J., Kuznetsova T., Uiterwaal C. S., Adeyemo A., Ludwig B., Tomaszewski M., Tzoulaki I., Palmer N. D., Chang Y. P., Steinle N. I., Grobbee D. E., Morrison A. C., Najjar S., Hadley D., Brown M. J., Connell J. M., Day I. N., Lawlor D. A., Lawrence R. W., Ongen H., Li Y., Young J. H., Bis J. C., Bolton J. A., Chaturvedi N., Islam M., Jafar T. H., Kulkarni S. R., Howard P., Guarrera S., Ricceri F., Emilsson V., Plump A., Weder A. B., Sun Y. V., Scott L. J., Peltonen L., Vartiainen E., Brand S. M., Staessen J. A., Wang T. J., Burton P. R., Artigas M. S., Dong Y., Wang X., Zhu H., Rudock M. E., Heckbert S. R., Smith N. L., Wiggins K. L., Doumatey A., Shriner D., Veldre G., Viigimaa M., Kinra S., Prabhakaran D., Tripathy V., Langefeld C. D., Rosengren A., Thelle D. S., Corsi A. M., Singleton A., Hilton G., Salako T., Iwai N., Kita Y., Ogihara T., Ohkubo T., Okamura T., Ueshima H., Umemura S., Eyheramendy S., Meitinger T., Cho Y. S., Kim H. L., Scott J., Sehmi J. S., Hedblad B., Nilsson P., Smith G. D., Raffel L. J., Yao J., Schwartz S. M., Ikram M., W L., Mosley T. H., Seshadri S., Shrine N. R., Wain L. V., Zitting P., Cooper J. A., van Gilst W. H., Janipalli C. S., Mani K., Yajnik C. S., Mattace-Raso F. U., Lakatta E. G., Orru M., Scuteri A., Ala-Korpela M., Kangas A. J., Soininen P., Tukiainen T., Wurtz P., Ong R. T., Dorr M., Galan P., Hercberg S., Lathrop M., Zelenika D., Zhai G., Meschia J. F., Sharma P., Terzic J., Kumar M., Denniff M., Zukowska-Szczechowska E., Wagenknecht L. E., Fowkes F., Charchar F. J., Guo X., Rotimi C., Bots M. L., Brand E., Talmud P. J., Nyberg F., Laan M., Palmer L. J., van der Schouw Y. T., Casas J. P., Vineis P., Ganesh S. K., Wong T. Y., Tai E. S., Morris R. W., Marmot M. G., Miki T., Chandak G. R., Zhu X., Elosua R., Soranzo N., Sijbrands E. J., Uda M., Vasan R. S., Alizadeh B. Z., de Boer R. A., Boezen H. M., Hillege H. L., van der Klauw M. M., Ormel J., Rosmalen J. G., Slaets J. P., Lagou V., Welch R. P., Wheeler E., Rehnberg E., Rasmussen-Torvik L. J., Lecoeur C., Johnson P. C., Sennblad B., Salo P., Timpson N. J., Evans D. M., St Pourcain B., Bielak L. F., Horikoshi M., Navarro P., Raychaudhuri S., Chen H., Rybin D., Willems S. M., Song K., An P., Marullo L., Jansen H., Pankow J. S., Edkins S., Varga T. V., Oksa H., Antonella M., Kong A., Herder C., Antti J., Small K., Miljkovic I., Atalay M., Kiess W., Smit J. H., Campbell S., Fowkes G. R., Rathmann W., Maerz W., Watanabe R. M., de Geus E. J., Penninx B. W., Toenjes A., Peyser P. A., Korner A., Dupuis J., Cucca F., Balkau B., Bouatia-Naji N., Purcell S., Musunuru K., Ardissino D., Mannucci P. M., Anand S., Engert J. C., Morgan T., Spertus J. A., Stoll M., Girelli D., McKeown P. P., Patterson C. C., Merlini P. A., Berzuini C., Bernardinelli L., Peyvandi F., Tubaro M., Celli P., Fetiveau R., Marziliano N., Casari G., Galli M., Ribichini F., Rossi M., Bernardi F., Zonzin P., Piazza A., Yee J., Friedlander Y., Marrugat J., Subirana I., Sala J., Ramos R., Williams G., Nathan D. M., Macrae C. A., Berglund G., Asselta R., Duga S., Spreafico M., Daly M. J., Nemesh J., Korn J. M., Surti A., Gianniny L., Parkin M., Burtt N., Gabriel S. B., Wright B. J., Ball S. G., Schunkert I., Linsel-Nitschke P., Lieb W., Fischer M., Grosshennig A., Preuss M., Scholz M., Chen Z., Wilensky R., Matthai W., Qasim A., Hakonarson H. H., Devaney J., Pichard A. D., Kent K. M., Satler L., Lindsay J. M., Waksman R., Knouff C. W., Scheffold T., Berger K., Huge A., Martinelli N., Olivieri O., Corrocher R., Xie C., Ahmadi K. R., Ainali C., Bataille V., Bell J. T., Buil A., Dermitzakis E. T., Dimas A. S., Durbin R., Glass D., Hassanali N., Ingle C., Knowles D., Krestyaninova M., Lowe C. E., Meduri E., Di Meglio P., Montgomery S. B., Nestle F. O., Nica A. C., Nisbet J., O'rahilly S., Parts L., Potter S., Sekowska M., Shin S. Y., Surdulescu G., Travers M. E., Tsaprouni L., Tsoka S., Wilk A., Yang T. P., Higashio J., Williams R., Nato A., Ambite J. L., Deelman E., Manolio T., Heiss G., Taylor K., Avery C., Graff M., Lin D., Quibrera M., Cochran B., Kao L., Umans J., Cole S., Maccluer J., Person S., Gross M., Fornage M., Durda P., Jenny N., Patsy B., Arnold A., Buzkova P., Haines J., Murdock D., Glenn K., Brown-Gentry K., Thornton-Wells T., Dumitrescu L., Bush W. S., Mitchell S. L., Goodloe R., Wilson S., Boston J., Malinowski J., Restrepo N., Oetjens M., Fowke J., Spencer K., Pendergrass S., Le Marchand L., Park L., Tiirikainen M., Kolonel L., Cheng I., Wang H., Shohet R., Stram D., Henderson B., Monroe K., Anderson G., Carlson C., Prentice R., Lacroix A., Wu C., Carty C., Rosse S., Young A., Kocarnik J., Lin Y., Jackson R., Duggan D., Kuller L., He C., Sulem P., Barbalic M., Broer L., Byrne E. M., Gudbjartsson D. F., McArdle P. F., Porcu E., van Wingerden S. W., Zhuang W. V., Lauc L. B., Broekmans F. J., Burri A., Chen C., Corre T., Coviello A. D., D'adamo P., Davies G., Deary I. J., Ebrahim S., Fauser B. C., Ferreli L., Folsom A. R., Hankinson S. E., Hass M., Janssens A. C., Karasik D., Keyzer J., Kiel D. P., Lahti J., Lai S., Laisk T., Laven J. S., Liu J., Lopez L. M., Louwers Y. V., Marongiu M., Klaric I. M., Masciullo C., Melzer D., Newman A. B., Pare G., Peeters P. H., Pop V. J., Raikkonen K., Salumets A., Stacey S. N., Starr J. M., Stathopoulou M. G., Styrkarsdottir U., Tenesa A., Tryggvadottir L., Tsui K., van Dam R. M., van Gils C. H., van Nierop P., Vink J. M., Voorhuis M., Widen E., Wijnands-Van Gent C. J., Yerges-Armstrong L. M., Zgaga L., Zygmunt M., Buring J. E., Crisponi L., Demerath E. W., Streeten E. A., Murray A., Visser J. A., Lunetta K. L., Elks C. E., Cousminer D. L., Koller D. L., Lin P., Smith E. N., Warrington N. M., Alavere H., Berenson G. S., Blackburn H., Busonero F., Chen W., Couper D., Easton D. F., Eriksson J., Foroud T., Kilpelainen T. O., Li S., Murray S. S., Ness A. R., Northstone K., Peacock M., Pennell C. E., Pharoah P., Rafnar T., Rice J. P., Ring S. M., Schork N. J., Segre A. V., Sovio U., Srinivasan S. R., Tammesoo M. L., van Meurs J. B., Young L., Bierut L. J., and Econs M. J.
Abstract: Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10-8), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20 % of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
Published: 2015

17. Cancer survival in the elderly: Effects of socio-economic factors and health care system features (ELDCARE project)

Author: Vercelli, M, Capocaccia, R, Micheli, A, Coebergh, J, Quinn, M, Martinez Garcia, C, Quaglia, A, Oberaigner, W, Ajmová, J, Aareleid, T, Palo, E, Hakulinen, T, Grosclaude, P, Ziegler, H, Tryggvadottir, L, Langmark, F, Andersen, A, Bielska Lasota, M, Pinheiro, P, Pleško, I, Pompe Kirn, V, Ecimovic, P, Möller, T, Lutz, J., LILLINI, ROBERTO, Public Health, Vercelli, M, Lillini, R, Capocaccia, R, Micheli, A, Coebergh, J, Quinn, M, Martinez Garcia, C, Quaglia, A, Oberaigner, W, Ajmová, J, Aareleid, T, Palo, E, Hakulinen, T, Grosclaude, P, Ziegler, H, Tryggvadottir, L, Langmark, F, Andersen, A, Bielska Lasota, M, Pinheiro, P, Pleško, I, Pompe Kirn, V, Ecimovic, P, Möller, T, and Lutz, J
Subjects: Gerontology, Male, Registrie, medicine.medical_specialty, Cancer Research, Epidemiology, Health Services for the Aged, Population, ELDCARE, Socioeconomic Factor, Cancer survival - elderly - socio-economic factors - health care system features, Elderly, SDG 3 - Good Health and Well-being, Neoplasms, Health care, medicine, Humans, Registries, education, Survival rate, Survival analysis, Aged, Aged, 80 and over, education.field_of_study, EUROCARE 3, Relative survival, business.industry, Incidence (epidemiology), Incidence, Hematology, Survival Analysis, Europe, Survival Rate, Socioeconomic Factors, Oncology, Marital status, Neoplasm, Female, Survival Analysi, business, Demography, Human
Abstract: The purpose of the ELDCARE project is to study differences in cancer survival for elderly patients by country, taking into account the socio-economic conditions and the characteristics of health care systems at the ecological level. Fifty-three European cancer registries, from 19 countries, participating in the EUROCARE 3 programme, collected information to compute relative survival on patients aged 65-84 years, diagnosed over the period 1990-1994. National statistics offices provided the macro-economic and labour force indicators (gross domestic product, total health expenditure, and proportion of people employed in the agriculture sector) as well as the features of national health care systems. Survival for several of the cancer sites had high positive Pearson's correlations (r) with the affluence indicators (usually r > 0.7), but survival for the poor prognosis cancers (lung, ovary, stomach) and for cervix uteri was not so well correlated. Among the medical resources considered, the number of computed tomography scanners was the variable most related to survival in the elderly; the number of total health practitioners in the country did not show any relationship. Survival was related to the marital status of elderly women more strongly than for men and younger people. The highest correlations of survival with the percentage of married elderly women in the population were for cancers of the rectum (r = 0.79) and breast (r = 0.66), while survival correlated negatively with the proportion of widows for most cancers. Being married or widowed is for elderly people, in particular elderly women, an important factor influencing psychological status, life habits and social relationships. Social conditions could play a major role in determining health outcomes, particularly in the elderly, by affecting access to health care and delay in diagnosis. © 2005 Elsevier Ltd. All rights reserved.
Published: 2006

18. Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index

Author: Hinney, A. (Anke), Kesselmeier, M. (M.), Jall, S. (S.), Volckmar, A.-L. (A. L.), Föcker, M. (M.), Antel, J. (J.), Heid, I.M. (Iris), Winkler, T.W. (Thomas W.), Grant, S.F.A. (S. F.A.), Guo, Y. (Yongli), Bergen, A.W. (Andrew), Grant, S.F.A. (Struan), Berrettini, W. (Wade), Hakonarson, H. (Hakon), Herpertz-Dahlmann, B. (B.), De Zwaan, M. (M.), Herzog, W. (W.), Ehrlich, S.M. (Stefan), Zipfel, S. (S.), Egberts, K. (Karin), Adan, R. (R.), Brandys, M. (M.), Elburg, A.A. (Annemarie) van, Boraska Perica, V. (V.), Müller, T.D., Tschöp, M.H. (M. H.), Zeggini, E. (Eleftheria), Bulik, C.M. (C. M.), Collier, D.A. (David), Scherag, A. (A.), Hebebrand, J. (J.), Tschop, M. (Matthias), Floyd, J. (Jamie), Thornton, L.M. (Laura), Huckins, L.M. (Laura M), Southam, L. (Lorraine), Rayner, N.W. (Nigel William), Tachmazidou, I. (Ioanna), Klump, K.L. (K. L.), Treasure, J. (Janet), Lewis, C.M. (Cathryn), Schmidt, U. (Ulrike), Tozzi, F. (Federica), Iezebrink, K. (Kirsty), Gorwood, P. (Philip), Kas, M.J.H. (Martien), Favaro, A. (Angela), Santonastaso, P. (Paolo), Fernández-Aranda, F. (Fernando), Gratacos, M. (Monica), Rybakowski, F. (Filip), Dmitrzak-Weglarz, M. (Monika), Kaprio, J. (Jaakko), Keski-Rahkonen, A. (Anna), Raevuori-Helkamaa, A. (Anu), Furth, E.F. (Eric) van, Slof-Op’t Landt, M.C.T. (Margarita C. T.), Hudson, J.I. (James I), Knudsen, G.P.S. (Gun Peggy S.), Monteleone, P. (Palmiero), Kaplan, A.S. (Allan S), Karwautz, A. (Andreas), Li, D. (Dong), Komaki, G. (Gen), Ando, T. (Tetsuya), Inoko, H. (Hidetoshi), Esko, T. (T.), Fischer, K. (Krista), Männik, K. (Katrin), Metspalu, A. (Andres), Baker, J.H. (Jessica H), Cone, R.D. (Roger D), Esko, T. (Tõnu), DeSocio, J.E. (Janiece E), Hilliard, C.E. (Christopher E), O’Toole, J.K. (Julie K), Pantel, J. (Jacques), Szatkiewicz, J.P. (Jin P), Taico, C. (Chrysecolla), Zerwas, S. (Stephanie), Trace, S.E. (Sara E), Davis, O.S.P. (Oliver S.), Helder, S. (Sietske), Bühren, K. (Katharina), Burghardt, R. (Roland), Imgart, H. (Hartmut), Scherag, A. (Andre), Boni, C. (Claudette), Ramoz, N. (Nicolas), Versini, A. (Audrey), Danner, U.N. (Unna N), de Kove, C. (Carolien), Hendriks, J. (Judith), Koeleman, B.P.C. (Bobby P. C.), Ophoff, R.A. (Roel), Strengman, E. (Eric), Bruson, A. (Alice), Clementi, M. (Maurizio), Degortes, D. (Daniela), Forzan, M. (Monica), Tenconi, E. (Elena), Docampo, E. (Elisa), Jiménez-Murcia, G.E.S. (Geòrgia Escaramí Susana), Lissowska, J. (Jolanta), Rajewski, A. (Andrzej), Szeszenia-Dabrowska, N. (Neonila), Slopien, A. (Agnieszka), Hauser, J. (J.), Karhunen, L. (Leila), Meulenbelt, I. (Ingrid), Slagboom, P.E. (Eline), Tortorella, A. (Alfonso), Maj, M. (Mario), Dedoussis, G.V. (George), Dedoussis, G.V. (G. V.), Koeleman, B.P.C. (Bobby), Gonidakis, F. (Fragiskos), Tziouvas, K. (Konstantinos), Tsitsika, A. (Artemis), Papezova, H. (Hana), Slachtova, L. (Lenka), Martaskova, D. (Debora), Kennedy, J.L., Levitan, R.D. (Robert D), Yilmaz, Z. (Zeynep), Huemer, J. (Julia), Koubek, D. (Doris), Merl, E. (Elisabeth), Wagner, G. (Gudrun), Lichtenstein, P. (Paul), Breen, G. (Gerome), Cohen-Woods, S. (Sarah), Farmer, A.E. (Anne E), Mcguffin, P. (Peter), Cichon, S. (Sven), Giegling, I. (Ina), Herms, S. (Stefan), Rujescu, D. (Dan), Schreiber, S. (Stefan), Wichmann, H.E. (Heinz Erich), Sladek, R. (Rob), Gambaro, G. (Giovanni), Soranzo, N. (Nicole), Julia, A. (Antonio), Marsal, S. (Sara), Rabionet, R. (Raquel), Gaborieau, V. (Valerie), Dick, D.M. (Danielle), Palotie, A. (A.), Ripatti, S. (Samuli), Widen, E., Espeseth, T. (Thomas), Lundervold, A.J. (Astri), Reinvang, I. (Ivar), Steen, V.M. (Vidar), Le Hellard, S. (Stephanie), Mattingsdal, M. (Morten), Ntalla, I. (Ioanna), Bencko, V. (Vladimir), Foretova, L. (Lenka), Janout, V. (Vladimir), Navratilova, M. (Marie), Pinto, D. (Dalila), Scherer, S.W. (Stephen W), Carlberg, L. (Laura), Schosser, A. (Alexandra), Alfredsson, L. (Lars), Pinto, D. (Duane), Scherer, S.W. (Stephen), Padyukov, L. (Leonid), Finan, C. (Chris), Kalsi, G. (Gursharan), Roberts, M. (Marion), Logan, D.W. (Darren W), Peltonen, L. (Leena Johanna), Ritchie, G.R.S. (Graham R.S.), Barrett, J.C. (Jeffrey), Estivill, X. (Xavier), Sullivan, P.F. (Patrick), Anderson, C.A. (Carl A), McGinnis, R. (Ralph), Sambrook, J. (Jennifer), Stephens, J. (Jonathan), Ouwehand, W.H. (Willem), McArdle, P.F. (P. F.), Ring, S.M. (Susan), Strachan, D.P. (David), Alexander, G. (Graeme), Conlon, P.J. (Peter J), Dominiczak, A. (Anna), Duncanson, A. (Audrey), Padyukov, L. (L.), Langford, C. (Cordelia), Lord, G. (Graham), Conlon, P. (Peter), Sandford, R. (Richard), Sheerin, N. (Neil), Vannberg, F.O. (Frederik O), Blackburn, H. (Hannah), Maxwell, A.P. (A.), Edkins, T. (Ted), Gillman, M.W. (Matthew W.), Gray, E. (Emma), Hunt, S.E. (Sarah E), Nengut, S.-G. (Suna-Gumuscu), Potter, S.C. (Simon), Rich, S.S. (Stephen), Simpkin, D. (Douglas), Whittaker, P. (Pamela), Ang, W.Q. (Wei), Atalay, M. (Mustafa), Beijsterveldt, C.E.M. (Toos) van, Bergen, N. (N.), Benke, K. (K.), Berry, D. (Diane), Boomsma, D.I. (Dorret), Bradfield, J.P. (Jonathan), Charoen, P. (Pimphen), Coin, L. (Lachlan), Cooper, C. (C.), Cousminer, D.L. (Diana), Das, S. (Shikta), Elliott, P. (P.), Evans, D.M. (D. M.), Feenstra, B. (B.), Flexeder, C. (Claudia), Frayling, T.M. (Timothy), Freathy, R.M. (Rachel), Gaillard, R. (R.), Geller, F. (Frank), Groen-Blokhuis, M. (Maria), Goh, L.K. (L. K.), Guxens Junyent, M. (Mònica), Hattersley, A.T. (Andrew), Haworth, C.M.A. (Claire M.), Hadley, D. (D.), Heinrich, J. (J.), Hirschhorn, J.N. (Joel), Hocher, B. (Berthold), Holloway, J.W. (J. W.), Holst, J.J., Hottenga, J.J. (Jouke Jan), Horikoshi, M. (Momoko), Huikari, V. (Ville), Hypponen, E. (E.), Iñiguez, C. (C.), Jaddoe, V.W. (V. W.), Jarvelin, M.R. (M. R.), Kaakinen, M. (M.), Kilpeläinen, T.O. (Tuomas), Hypponen, E. (Elina), Kowgier, M. (Matthew), Lakka, T.A. (Timo), Cooper, C. (Charles), Lange, L.A. (Leslie), Lawlor, D.A. (D. A.), Lehtimäki, T. (Terho), Lewin, A. (Alex), Elliott, P. (Paul), Lindi, V. (Virpi), Maggi, R. (Reedik), Feenstra, B. (Bjarke), McCarthy, M.I. (M. I.), Melbye, M. (Mads), Middeldorp, C.M. (Christel), Millwood, I.Y. (Iona), Mohlke, K.L. (Karen), Mook-Kanamori, D.O. (D. O.), Murray, J.C. (Jeffrey), Nivard, M. (Michel), Nohr, C. (Christian), Oken, E. (Emily), Ong, K.K. (K. K.), O'Reilly, P.F. (P. F.), Palmer, C. (Cameron), Panoutsopoulou, K. (K.), Pararajasingham, J. (Jennifer), Pearson, E.R. (E. R.), Pennell, C.E. (Craig), Power, C. (Christopher), Price, T.S. (Thomas), Prokopenko, I. (Inga), Raitakari, O.T. (O. T.), Rodriguez, A. (A.), Salem, R.M. (Rany), Saw, S.M. (S. M.), Sebert, S. (S.), Siitonen, N. (Niina), Jaddoe, V.W.V. (Vincent), Sørensen, T.I.A. (Thorkild), Sovio, U. (Ulla), Lawlor, D.A. (Debbie), Sunyer, J. (J.), Taal, H.R. (Rob), Teo, Y.Y. (Y. Y.), Thiering, E. (Elisabeth), Tiesler, C. (C.), Timpson, N.J. (Nicholas), Uitterlinden, A.G. (André), Valcárcel, B. (Beatriz), Teo, Y.Y. (Yik Ying), White, S.J. (Stefan), Willemsen, G.A.H.M. (Gonneke), Wilson, J.F. (J. F.), Yaghootkar, H. (H.), Elks, C.E. (Cathy), Perry, J.R. (J. R.), Sulem, P. (Patrick), Chasman, D.I. (Daniel), Franceschini, N. (Nora), He, C. (C.), Lunetta, K.L. (Kathryn), Visser, J.A. (Jenny), Byrne, E.M. (E. M.), Gudbjartsson, D.F. (Daniel), Koller, D.L. (Daniel), Kutalik, Z. (Zoltán), Lin, P. (P.), Mangino, M. (Massimo), Byrne, E.M. (Enda), Smith, A.V. (Albert), Stolk, L. (Lisette), Wingerden, S. (Sophie) van, Zhao, J.H. (J. H.), Albrecht, E. (Eva), Corre, T. (Tanguy), Ingelsson, E. (Erik), Hayward, C. (Caroline), Magnusson, P.K. (Patrik), Smith, A.V. (Davey), Chanock, S.J. (Stephen), Warrington, M. (M.), Zgaga, L. (L.), Alavere, H. (Helene), Amin, N. (Najaf), Aspelund, T. (T.), Ulivi, S. (Shelia), Sunyer, J. (Jordi), Berenson, G. (Gerald), Bergmann, S.M. (Sven), Boerwinkle, E. (E.), Buring, J.E. (Julie), Busonero, F. (F.), Barroso, I.E. (Inês), Chanock, S.J. (S. J.), Warrington, N.M. (Nicole), Couper, D.J. (David), Coviello, A.D. (Andrea), Busonero, F., Faire, U. (Ulf) de, de Geus, E.J. (E. J.), Deloukas, P. (Panagiotis), Döring, A. (Angela), Davey Smith, G. (G.), Adamo, P. (Pio) d', Eiriksdottir, G. (Gudny), Geus, E.J.C. (Eco) de, Hagen, K. (Knut), Ferrucci, L. (L.), Folsom, A.R. (A. R.), Foroud, T. (T.), Garcia, M.E. (M.), Gasparini, P. (P.), Gieger, C. (Christian), Gudnason, V. (V.), Folsom, A.R. (Aaron), Hankinson, S.E. (S. E.), Ferreli, L. (Liana), Gasparini, P. (Paolo), Hernandez, D.G. (Dena), Hofman, A. (Albert), Hu, F.B. (F. B.), Illig, T. (T.), Jarvelin, M.-R. (Marjo-Riitta), Johnson, A.D. (Andrew), Karasik, D. (David), Khaw, K.T. (K. T.), Kiel, D.P. (Douglas P.), Kolcic, I. (Ivana), Kraft, P. (Peter), Launer, L.J. (Lenore), Laven, J.S. (J. S.), Li, S. (S.), Liu, J. (J.), Levy, D. (D.), Martin, N.G. (N. G.), Aspelund, T. (Thor), Nalls, M.A. (Michael), Navarro, P. (Pau), Nelis, M. (M.), Ness, A.R. (A. R.), Boerwinkle, E.A. (Eric), Oostra, B.A. (Ben), Peacock, M. (M.), Pare, G. (Guillame), Parker, A.N. (Alex), Pedersen, N.L. (Nancy), Cornelis, M. (Marilyn), Polasek, O. (Ozren), Plump, A.S. (A. S.), Peacock, M. (Munro), Porcu, E. (Eleonora), Rafnar, T. (Thorunn), Rice, J.P. (John), Rivadeneira, F. (F.), Sala, C. (Cinzia), Salomaa, V. (Veikko), Sanna, S. (Serena), Schlessinger, D. (D.), Scuteri, A. (A.), Segrè, A.V. (Ayellet), Foroud, T. (Tatiana), Srinivasan, S.R. (Sathanur), Tammesoo, M.L. (M. L.), Tikkanen, E. (Emmi), Toniolo, D. (Daniela), Scuteri, A. (Angelo), Tryggvadottir, L. (Laufey), Tyrer, J. (J.), Uda, M. (M.), van Dam, R.M. (R. M.), Meurs, J.B.J. (Joyce) van, Vollenweider, P. (Peter), Waeber, G. (Gérard), Wareham, N.J. (Nick), Waterworth, D. (Dawn), Weedon, M.N. (Michael), Wright, A.F. (Alan), Young, L. (L.), Zhai, G. (G.), Zhuang, W.V. (W. V.), Bierut, L.J. (L. J.), Boyd, H.A. (H. A.), Crisponi, L. (Laura), Demerath, E.W. (E. W.), Duijn, C.M. (Cornelia) van, Econs, M.J. (M. J.), Harris, T.B. (Tamara), Bierut, L.J. (Laura), Loos, R.J.F. (Ruth), Ridker, P.M. (Paul), Demerath, E.W. (Ellen), Streeten, E.A. (Elizabeth), Econs, M.J. (Michael), Thorsteinsdottir, U. (Unnur), Widen, E. (E.), Murabito, J. (Joanne), Ness, A.R. (Andrew), Spector, T.D. (Timothy), Crawford, S. (Steve), Crow, S. (Scott), Fichter, M.M. (M. M.), Halmi, K.A. (K. A.), Palotie, A. (Aarno), La Via, M. (Maria), Mitchell, J. (James), Strober, M. (Michael), Rotondo, A. (Alessandro), Woodside, D.B. (D Blake), Keel, P. (Pamela), Lilenfeld, L. (Lisa), Rivadeneira Ramirez, F. (Fernando), Magistretti, P. (Pierre), Montgomery, G.W. (G. W.), Hinney, A. (Anke), Kesselmeier, M. (M.), Jall, S. (S.), Volckmar, A.-L. (A. L.), Föcker, M. (M.), Antel, J. (J.), Heid, I.M. (Iris), Winkler, T.W. (Thomas W.), Grant, S.F.A. (S. F.A.), Guo, Y. (Yongli), Bergen, A.W. (Andrew), Grant, S.F.A. (Struan), Berrettini, W. (Wade), Hakonarson, H. (Hakon), Herpertz-Dahlmann, B. (B.), De Zwaan, M. (M.), Herzog, W. (W.), Ehrlich, S.M. (Stefan), Zipfel, S. (S.), Egberts, K. (Karin), Adan, R. (R.), Brandys, M. (M.), Elburg, A.A. (Annemarie) van, Boraska Perica, V. (V.), Müller, T.D., Tschöp, M.H. (M. H.), Zeggini, E. (Eleftheria), Bulik, C.M. (C. M.), Collier, D.A. (David), Scherag, A. (A.), Hebebrand, J. (J.), Tschop, M. (Matthias), Floyd, J. (Jamie), Thornton, L.M. (Laura), Huckins, L.M. (Laura M), Southam, L. (Lorraine), Rayner, N.W. (Nigel William), Tachmazidou, I. (Ioanna), Klump, K.L. (K. L.), Treasure, J. (Janet), Lewis, C.M. (Cathryn), Schmidt, U. (Ulrike), Tozzi, F. (Federica), Iezebrink, K. (Kirsty), Gorwood, P. (Philip), Kas, M.J.H. (Martien), Favaro, A. (Angela), Santonastaso, P. (Paolo), Fernández-Aranda, F. (Fernando), Gratacos, M. (Monica), Rybakowski, F. (Filip), Dmitrzak-Weglarz, M. (Monika), Kaprio, J. (Jaakko), Keski-Rahkonen, A. (Anna), Raevuori-Helkamaa, A. (Anu), Furth, E.F. (Eric) van, Slof-Op’t Landt, M.C.T. (Margarita C. T.), Hudson, J.I. (James I), Knudsen, G.P.S. (Gun Peggy S.), Monteleone, P. (Palmiero), Kaplan, A.S. (Allan S), Karwautz, A. (Andreas), Li, D. (Dong), Komaki, G. (Gen), Ando, T. (Tetsuya), Inoko, H. (Hidetoshi), Esko, T. (T.), Fischer, K. (Krista), Männik, K. (Katrin), Metspalu, A. (Andres), Baker, J.H. (Jessica H), Cone, R.D. (Roger D), Esko, T. (Tõnu), DeSocio, J.E. (Janiece E), Hilliard, C.E. (Christopher E), O’Toole, J.K. (Julie K), Pantel, J. (Jacques), Szatkiewicz, J.P. (Jin P), Taico, C. (Chrysecolla), Zerwas, S. (Stephanie), Trace, S.E. (Sara E), Davis, O.S.P. (Oliver S.), Helder, S. (Sietske), Bühren, K. (Katharina), Burghardt, R. (Roland), Imgart, H. (Hartmut), Scherag, A. (Andre), Boni, C. (Claudette), Ramoz, N. (Nicolas), Versini, A. (Audrey), Danner, U.N. (Unna N), de Kove, C. (Carolien), Hendriks, J. (Judith), Koeleman, B.P.C. (Bobby P. C.), Ophoff, R.A. (Roel), Strengman, E. (Eric), Bruson, A. (Alice), Clementi, M. (Maurizio), Degortes, D. (Daniela), Forzan, M. (Monica), Tenconi, E. (Elena), Docampo, E. (Elisa), Jiménez-Murcia, G.E.S. (Geòrgia Escaramí Susana), Lissowska, J. (Jolanta), Rajewski, A. (Andrzej), Szeszenia-Dabrowska, N. (Neonila), Slopien, A. (Agnieszka), Hauser, J. (J.), Karhunen, L. (Leila), Meulenbelt, I. (Ingrid), Slagboom, P.E. (Eline), Tortorella, A. (Alfonso), Maj, M. (Mario), Dedoussis, G.V. (George), Dedoussis, G.V. (G. V.), Koeleman, B.P.C. (Bobby), Gonidakis, F. (Fragiskos), Tziouvas, K. (Konstantinos), Tsitsika, A. (Artemis), Papezova, H. (Hana), Slachtova, L. (Lenka), Martaskova, D. (Debora), Kennedy, J.L., Levitan, R.D. (Robert D), Yilmaz, Z. (Zeynep), Huemer, J. (Julia), Koubek, D. (Doris), Merl, E. (Elisabeth), Wagner, G. (Gudrun), Lichtenstein, P. (Paul), Breen, G. (Gerome), Cohen-Woods, S. (Sarah), Farmer, A.E. (Anne E), Mcguffin, P. (Peter), Cichon, S. (Sven), Giegling, I. (Ina), Herms, S. (Stefan), Rujescu, D. (Dan), Schreiber, S. (Stefan), Wichmann, H.E. (Heinz Erich), Sladek, R. (Rob), Gambaro, G. (Giovanni), Soranzo, N. (Nicole), Julia, A. (Antonio), Marsal, S. (Sara), Rabionet, R. (Raquel), Gaborieau, V. (Valerie), Dick, D.M. (Danielle), Palotie, A. (A.), Ripatti, S. (Samuli), Widen, E., Espeseth, T. (Thomas), Lundervold, A.J. (Astri), Reinvang, I. (Ivar), Steen, V.M. (Vidar), Le Hellard, S. (Stephanie), Mattingsdal, M. (Morten), Ntalla, I. (Ioanna), Bencko, V. (Vladimir), Foretova, L. (Lenka), Janout, V. (Vladimir), Navratilova, M. (Marie), Pinto, D. (Dalila), Scherer, S.W. (Stephen W), Carlberg, L. (Laura), Schosser, A. (Alexandra), Alfredsson, L. (Lars), Pinto, D. (Duane), Scherer, S.W. (Stephen), Padyukov, L. (Leonid), Finan, C. (Chris), Kalsi, G. (Gursharan), Roberts, M. (Marion), Logan, D.W. (Darren W), Peltonen, L. (Leena Johanna), Ritchie, G.R.S. (Graham R.S.), Barrett, J.C. (Jeffrey), Estivill, X. (Xavier), Sullivan, P.F. (Patrick), Anderson, C.A. (Carl A), McGinnis, R. (Ralph), Sambrook, J. (Jennifer), Stephens, J. (Jonathan), Ouwehand, W.H. (Willem), McArdle, P.F. (P. F.), Ring, S.M. (Susan), Strachan, D.P. (David), Alexander, G. (Graeme), Conlon, P.J. (Peter J), Dominiczak, A. (Anna), Duncanson, A. (Audrey), Padyukov, L. (L.), Langford, C. (Cordelia), Lord, G. (Graham), Conlon, P. (Peter), Sandford, R. (Richard), Sheerin, N. (Neil), Vannberg, F.O. (Frederik O), Blackburn, H. (Hannah), Maxwell, A.P. (A.), Edkins, T. (Ted), Gillman, M.W. (Matthew W.), Gray, E. (Emma), Hunt, S.E. (Sarah E), Nengut, S.-G. (Suna-Gumuscu), Potter, S.C. (Simon), Rich, S.S. (Stephen), Simpkin, D. (Douglas), Whittaker, P. (Pamela), Ang, W.Q. (Wei), Atalay, M. (Mustafa), Beijsterveldt, C.E.M. (Toos) van, Bergen, N. (N.), Benke, K. (K.), Berry, D. (Diane), Boomsma, D.I. (Dorret), Bradfield, J.P. (Jonathan), Charoen, P. (Pimphen), Coin, L. (Lachlan), Cooper, C. (C.), Cousminer, D.L. (Diana), Das, S. (Shikta), Elliott, P. (P.), Evans, D.M. (D. M.), Feenstra, B. (B.), Flexeder, C. (Claudia), Frayling, T.M. (Timothy), Freathy, R.M. (Rachel), Gaillard, R. (R.), Geller, F. (Frank), Groen-Blokhuis, M. (Maria), Goh, L.K. (L. K.), Guxens Junyent, M. (Mònica), Hattersley, A.T. (Andrew), Haworth, C.M.A. (Claire M.), Hadley, D. (D.), Heinrich, J. (J.), Hirschhorn, J.N. (Joel), Hocher, B. (Berthold), Holloway, J.W. (J. W.), Holst, J.J., Hottenga, J.J. (Jouke Jan), Horikoshi, M. (Momoko), Huikari, V. (Ville), Hypponen, E. (E.), Iñiguez, C. (C.), Jaddoe, V.W. (V. W.), Jarvelin, M.R. (M. R.), Kaakinen, M. (M.), Kilpeläinen, T.O. (Tuomas), Hypponen, E. (Elina), Kowgier, M. (Matthew), Lakka, T.A. (Timo), Cooper, C. (Charles), Lange, L.A. (Leslie), Lawlor, D.A. (D. A.), Lehtimäki, T. (Terho), Lewin, A. (Alex), Elliott, P. (Paul), Lindi, V. (Virpi), Maggi, R. (Reedik), Feenstra, B. (Bjarke), McCarthy, M.I. (M. I.), Melbye, M. (Mads), Middeldorp, C.M. (Christel), Millwood, I.Y. (Iona), Mohlke, K.L. (Karen), Mook-Kanamori, D.O. (D. O.), Murray, J.C. (Jeffrey), Nivard, M. (Michel), Nohr, C. (Christian), Oken, E. (Emily), Ong, K.K. (K. K.), O'Reilly, P.F. (P. F.), Palmer, C. (Cameron), Panoutsopoulou, K. (K.), Pararajasingham, J. (Jennifer), Pearson, E.R. (E. R.), Pennell, C.E. (Craig), Power, C. (Christopher), Price, T.S. (Thomas), Prokopenko, I. (Inga), Raitakari, O.T. (O. T.), Rodriguez, A. (A.), Salem, R.M. (Rany), Saw, S.M. (S. M.), Sebert, S. (S.), Siitonen, N. (Niina), Jaddoe, V.W.V. (Vincent), Sørensen, T.I.A. (Thorkild), Sovio, U. (Ulla), Lawlor, D.A. (Debbie), Sunyer, J. (J.), Taal, H.R. (Rob), Teo, Y.Y. (Y. Y.), Thiering, E. (Elisabeth), Tiesler, C. (C.), Timpson, N.J. (Nicholas), Uitterlinden, A.G. (André), Valcárcel, B. (Beatriz), Teo, Y.Y. (Yik Ying), White, S.J. (Stefan), Willemsen, G.A.H.M. (Gonneke), Wilson, J.F. (J. F.), Yaghootkar, H. (H.), Elks, C.E. (Cathy), Perry, J.R. (J. R.), Sulem, P. (Patrick), Chasman, D.I. (Daniel), Franceschini, N. (Nora), He, C. (C.), Lunetta, K.L. (Kathryn), Visser, J.A. (Jenny), Byrne, E.M. (E. M.), Gudbjartsson, D.F. (Daniel), Koller, D.L. (Daniel), Kutalik, Z. (Zoltán), Lin, P. (P.), Mangino, M. (Massimo), Byrne, E.M. (Enda), Smith, A.V. (Albert), Stolk, L. (Lisette), Wingerden, S. (Sophie) van, Zhao, J.H. (J. H.), Albrecht, E. (Eva), Corre, T. (Tanguy), Ingelsson, E. (Erik), Hayward, C. (Caroline), Magnusson, P.K. (Patrik), Smith, A.V. (Davey), Chanock, S.J. (Stephen), Warrington, M. (M.), Zgaga, L. (L.), Alavere, H. (Helene), Amin, N. (Najaf), Aspelund, T. (T.), Ulivi, S. (Shelia), Sunyer, J. (Jordi), Berenson, G. (Gerald), Bergmann, S.M. (Sven), Boerwinkle, E. (E.), Buring, J.E. (Julie), Busonero, F. (F.), Barroso, I.E. (Inês), Chanock, S.J. (S. J.), Warrington, N.M. (Nicole), Couper, D.J. (David), Coviello, A.D. (Andrea), Busonero, F., Faire, U. (Ulf) de, de Geus, E.J. (E. J.), Deloukas, P. (Panagiotis), Döring, A. (Angela), Davey Smith, G. (G.), Adamo, P. (Pio) d', Eiriksdottir, G. (Gudny), Geus, E.J.C. (Eco) de, Hagen, K. (Knut), Ferrucci, L. (L.), Folsom, A.R. (A. R.), Foroud, T. (T.), Garcia, M.E. (M.), Gasparini, P. (P.), Gieger, C. (Christian), Gudnason, V. (V.), Folsom, A.R. (Aaron), Hankinson, S.E. (S. E.), Ferreli, L. (Liana), Gasparini, P. (Paolo), Hernandez, D.G. (Dena), Hofman, A. (Albert), Hu, F.B. (F. B.), Illig, T. (T.), Jarvelin, M.-R. (Marjo-Riitta), Johnson, A.D. (Andrew), Karasik, D. (David), Khaw, K.T. (K. T.), Kiel, D.P. (Douglas P.), Kolcic, I. (Ivana), Kraft, P. (Peter), Launer, L.J. (Lenore), Laven, J.S. (J. S.), Li, S. (S.), Liu, J. (J.), Levy, D. (D.), Martin, N.G. (N. G.), Aspelund, T. (Thor), Nalls, M.A. (Michael), Navarro, P. (Pau), Nelis, M. (M.), Ness, A.R. (A. R.), Boerwinkle, E.A. (Eric), Oostra, B.A. (Ben), Peacock, M. (M.), Pare, G. (Guillame), Parker, A.N. (Alex), Pedersen, N.L. (Nancy), Cornelis, M. (Marilyn), Polasek, O. (Ozren), Plump, A.S. (A. S.), Peacock, M. (Munro), Porcu, E. (Eleonora), Rafnar, T. (Thorunn), Rice, J.P. (John), Rivadeneira, F. (F.), Sala, C. (Cinzia), Salomaa, V. (Veikko), Sanna, S. (Serena), Schlessinger, D. (D.), Scuteri, A. (A.), Segrè, A.V. (Ayellet), Foroud, T. (Tatiana), Srinivasan, S.R. (Sathanur), Tammesoo, M.L. (M. L.), Tikkanen, E. (Emmi), Toniolo, D. (Daniela), Scuteri, A. (Angelo), Tryggvadottir, L. (Laufey), Tyrer, J. (J.), Uda, M. (M.), van Dam, R.M. (R. M.), Meurs, J.B.J. (Joyce) van, Vollenweider, P. (Peter), Waeber, G. (Gérard), Wareham, N.J. (Nick), Waterworth, D. (Dawn), Weedon, M.N. (Michael), Wright, A.F. (Alan), Young, L. (L.), Zhai, G. (G.), Zhuang, W.V. (W. V.), Bierut, L.J. (L. J.), Boyd, H.A. (H. A.), Crisponi, L. (Laura), Demerath, E.W. (E. W.), Duijn, C.M. (Cornelia) van, Econs, M.J. (M. J.), Harris, T.B. (Tamara), Bierut, L.J. (Laura), Loos, R.J.F. (Ruth), Ridker, P.M. (Paul), Demerath, E.W. (Ellen), Streeten, E.A. (Elizabeth), Econs, M.J. (Michael), Thorsteinsdottir, U. (Unnur), Widen, E. (E.), Murabito, J. (Joanne), Ness, A.R. (Andrew), Spector, T.D. (Timothy), Crawford, S. (Steve), Crow, S. (Scott), Fichter, M.M. (M. M.), Halmi, K.A. (K. A.), Palotie, A. (Aarno), La Via, M. (Maria), Mitchell, J. (James), Strober, M. (Michael), Rotondo, A. (Alessandro), Woodside, D.B. (D Blake), Keel, P. (Pamela), Lilenfeld, L. (Lisa), Rivadeneira Ramirez, F. (Fernando), Magistretti, P. (Pierre), and Montgomery, G.W. (G. W.)
Abstract: The maintenance of normal body weight is disrupted in patients with anorexia nervosa (AN) for prolonged periods of time. Prior to the onset of AN, premorbid body mass index (BMI) spans the entire range from underweight to obese. After recovery, patients have reduced rates of overweight and obesity. As such, loci involved in body weight regulation may also be relevant for AN and vice versa. Our primary analysis comprised a cross-trait analysis of the 1000 single-nucleotide polymorphisms (SNPs) with the lowest P-values in a genome-wide association meta-analysis (GWAMA) of AN (GCAN) for evidence of association in the largest published GWAMA for BMI (GIANT). Subsequently we performed sex-stratified analyses for these 1000 SNPs. Functional ex vivo studies on four genes ensued. Lastly, a look-up of GWAMA-derived BMI-related loci was performed in the AN GWAMA. We detected significant associations (P-values <5 × 10-5, Bonferroni-corrected P<0.05) for nine SNP alleles at three independent loci. Interestingly, all AN susceptibility alleles were consistently associated with increased BMI. None of the genes (chr. 10: CTBP2, chr. 19: CCNE1, chr. 2: CARF and NBEAL1; the latter is a region with high linkage disequilibrium) nearest to these SNPs has previously been associated with AN or obesity. Sex-stratified analyses revealed that the strongest BMI signal originated predominantly from females (chr. 10 rs1561589; Poverall: 2.47 × 10-06/Pfemales: 3.45 × 10-07/Pmales: 0.043). Functional ex vivo studies in mice revealed reduced hypothalamic expression of Ctbp2 and Nbeal1 after fasting. Hypothalamic expression of Ctbp2 was increased in diet-induced obese (DIO) mice as compared with age-matched lean controls. We observed no evidence for associations for the look-up of BMI-related loci in the AN GWAMA. A cross-trait analysis of AN and BMI loci revealed variants at three chromosomal loci with potential joint impact. The chromosome 10 locus is particularly promising given that the associa
Published: 2017
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19. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity

Author: D. L. Cousminer, D. J. Berry, N. J. Timpson, W. Ang, E. Thiering, E. M. Byrne, H. R. Taal, V. Huikari, J. P. Bradfield, M. Kerkhof, M. M. Groen Blokhuis, E. Kreiner Moller, M. Marinelli, C. Holst, J. T. Leinonen, J. R. B. Perry, I. Surakka, O. Pietilainen, J. Kettunen, V. Anttila, M. Kaakinen, U. Sovio, A. Pouta, S. Das, V. Lagou, C. Power, I. Prokopenko, D. M. Evans, J. P. Kemp, B. St Pourcain, S. Ring, A. Palotie, E. Kajantie, C. Osmond, T. Lehtimaki, J. S. Viikari, M. Kahonen, N. M. Warrington, S. J. Lye, L. J. Palmer, C. M. T. Tiesler, C. Flexeder, G. W. Montgomery, S. E. Medland, A. Hofman, H. Hakonarson, M. Guxens, M. Bartels, V. Salomaa, J. M. Murabito, J. Kaprio, T. I. A. Sorensen, F. Ballester, H. Bisgaard, D. I. Boomsma, G. H. Koppelman, S. F. A. Grant, V. W. V. Jaddoe, N. G. Martin, J. Heinrich, C. E. Pennell, O. T. Raitakari, J. G. Eriksson, G. D. Smith, E. Hypponen, M. R. Jarvelin, M. I. McCarthy, S. Ripatti, E. Widen, Adair LS, Ang W, Atalay M, van Beijsterveldt T, Bergen N, Benke K, Berry DJ, Boomsma DI, Bradfield JP, Charoen P, Coin L, Cooper C, Cousminer DL, Das S, Davis OS, Dedoussis GV, Elliott P, Estivill X, Evans DM, Feenstra B, Flexeder C, Frayling T, Freathy RM, Gaillard R, Geller F, Gillman M, Grant SF, Groen Blokhuis M, Goh LK, Guxens M, Hakonarson H, Hattersley AT, Haworth CM, Hadley D, Hedebrand J, Heinrich J, Hinney A, Hirschhorn JN, Hocher B, Holloway JW, Holst C, Hottenga JJ, Horikoshi M, Huikari V, Hypponen E, Iñiguez C, Jaddoe VW, Jarvelin MR, Kaakinen M, Kilpeläinen TO, Kirin M, Kowgier M, Lakka HM, Lakka TA, Lange LA, Lawlor DA, Lehtimäki T, Lewin A, Lindgren C, Lindi V, Maggi R, Marsh J, McCarthy MI, Melbye M, Middeldorp C, Millwood I, Mohlke KL, Mook Kanamori DO, Murray JC, Nivard M, Nohr EA, Ntalla I, Oken E, Ong KK, O'Reilly PF, Palmer LJ, Panoutsopoulou K, Pararajasingham J, Pearson ER, Pennell CE, Power C, Price TS, Prokopenko I, Raitakari OT, Rodriguez A, Salem RM, Saw SM, Scherag A, Sebert S, Siitonen N, Simell O, Sørensen TI, Sovio U, Pourcain BS, Strachan DP, Sunyer J, Taal HR, Teo YY, Thiering E, Tiesler C, Timpson NJ, Uitterlinden AG, Valcárcel B, Warrington NM, White S, Widén E, Willemsen G, Wilson JF, Yaghootkar H, Zeggini E, Elks CE, Perry JR, Sulem P, Chasman DI, Franceschini N, He C, Lunetta KL, Visser JA, Byrne EM, Gudbjartsson DF, Esko T, Koller DL, Kutalik Z, Lin P, Mangino M, Marongiu M, McArdle PF, Smith AV, Stolk L, van Wingerden SH, Zhao JH, Albrecht E, Corre T, Ingelsson E, Hayward C, Magnusson PK, Smith EN, Ulivi S, Warrington M, Zgaga L, Alavere H, Amin N, Aspelund T, Bandinelli S, Barroso I, Berenson GS, Bergmann S, Blackburn H, Boerwinkle E, Buring JE, Busonero F, Campbell H, Chanock SJ, Chen W, Cornelis MC, Couper D, Coviello AD, de Faire U, de Geus EJ, Deloukas P, Döring A, Davey Smith G, Easton DF, Eiriksdottir G, Emilsson V, Eriksson J, Ferrucci L, Folsom AR, Foroud T, Garcia M, GASPARINI, PAOLO, Gieger C, Gudnason V, Hall P, Hankinson SE, Ferreli L, Heath AC, Hernandez DG, Hofman A, Hu FB, Illig T, Järvelin MR, Johnson AD, Karasik D, Khaw KT, Kiel DP, Kolcic I, Kraft P, Launer LJ, Laven JS, Li S, Liu J, Levy D, Martin NG, McArdle WL, Mooser V, Murray SS, Nalls MA, Navarro P, Nelis M, Ness AR, Northstone K, Oostra BA, Peacock M, Palotie A, Paré G, Parker AN, Pedersen NL, Peltonen L, Pharoah P, Polasek O, Plump AS, Pouta A, Porcu E, Rafnar T, Rice JP, Ring SM, Rivadeneira F, Rudan I, Sala C, Salomaa V, Sanna S, Schlessinger D, Schork NJ, Scuteri A, Segrè AV, Shuldiner AR, Soranzo N, Srinivasan SR, Tammesoo ML, Tikkanen E, Toniolo D, Tsui K, Tryggvadottir L, Tyrer J, Uda M, van Dam RM, van Meurs JB, Vollenweider P, Waeber G, Wareham NJ, Waterworth DM, Weedon MN, Wichmann HE, Wright AF, Young L, Zhai G, Zhuang WV, Bierut LJ, Boyd HA, Crisponi L, Demerath EW, van Duijn CM, Econs MJ, Harris TB, Hunter DJ, Loos RJ, Metspalu A, Montgomery GW, Ridker PM, Spector TD, Streeten EA, Stefansson K, Thorsteinsdottir U, Widen E, Murabito JM, Murray A., D'ADAMO, ADAMO PIO, Cousminer, Diana L, Berry, Diane J, Timpson, Nicholas J, Ang, Wei, Hyppönen, Elina, Widen, Elisabéth, ReproGen Consortium, Early Growth Genetics (EGG) Consortium, Pediatrics, Epidemiology, Internal Medicine, D. L., Cousminer, D. J., Berry, N. J., Timpson, W., Ang, E., Thiering, E. M., Byrne, H. R., Taal, V., Huikari, J. P., Bradfield, M., Kerkhof, M. M., Groen Blokhui, E., Kreiner Moller, M., Marinelli, C., Holst, J. T., Leinonen, J. R. B., Perry, I., Surakka, O., Pietilainen, J., Kettunen, V., Anttila, M., Kaakinen, U., Sovio, A., Pouta, S., Da, V., Lagou, C., Power, I., Prokopenko, D. M., Evan, J. P., Kemp, B., St Pourcain, S., Ring, A., Palotie, E., Kajantie, C., Osmond, T., Lehtimaki, J. S., Viikari, M., Kahonen, N. M., Warrington, S. J., Lye, L. J., Palmer, C. M. T., Tiesler, C., Flexeder, G. W., Montgomery, S. E., Medland, A., Hofman, H., Hakonarson, M., Guxen, M., Bartel, V., Salomaa, J. M., Murabito, J., Kaprio, T. I. A., Sorensen, F., Ballester, H., Bisgaard, D. I., Boomsma, G. H., Koppelman, S. F. A., Grant, V. W. V., Jaddoe, N. G., Martin, J., Heinrich, C. E., Pennell, O. T., Raitakari, J. G., Eriksson, G. D., Smith, E., Hypponen, M. R., Jarvelin, M. I., Mccarthy, S., Ripatti, E., Widen, Adair, L, Ang, W, Atalay, M, van Beijsterveldt, T, Bergen, N, Benke, K, Berry, Dj, Boomsma, Di, Bradfield, Jp, Charoen, P, Coin, L, Cooper, C, Cousminer, Dl, Das, S, Davis, O, Dedoussis, Gv, Elliott, P, Estivill, X, Evans, Dm, Feenstra, B, Flexeder, C, Frayling, T, Freathy, Rm, Gaillard, R, Geller, F, Gillman, M, Grant, Sf, Groen Blokhuis, M, Goh, Lk, Guxens, M, Hakonarson, H, Hattersley, At, Haworth, Cm, Hadley, D, Hedebrand, J, Heinrich, J, Hinney, A, Hirschhorn, Jn, Hocher, B, Holloway, Jw, Holst, C, Hottenga, Jj, Horikoshi, M, Huikari, V, Hypponen, E, Iñiguez, C, Jaddoe, Vw, Jarvelin, Mr, Kaakinen, M, Kilpeläinen, To, Kirin, M, Kowgier, M, Lakka, Hm, Lakka, Ta, Lange, La, Lawlor, Da, Lehtimäki, T, Lewin, A, Lindgren, C, Lindi, V, Maggi, R, Marsh, J, Mccarthy, Mi, Melbye, M, Middeldorp, C, Millwood, I, Mohlke, Kl, Mook Kanamori, Do, Murray, Jc, Nivard, M, Nohr, Ea, Ntalla, I, Oken, E, Ong, Kk, O'Reilly, Pf, Palmer, Lj, Panoutsopoulou, K, Pararajasingham, J, Pearson, Er, Pennell, Ce, Power, C, Price, T, Prokopenko, I, Raitakari, Ot, Rodriguez, A, Salem, Rm, Saw, Sm, Scherag, A, Sebert, S, Siitonen, N, Simell, O, Sørensen, Ti, Sovio, U, Pourcain, B, Strachan, Dp, Sunyer, J, Taal, Hr, Teo, Yy, Thiering, E, Tiesler, C, Timpson, Nj, Uitterlinden, Ag, Valcárcel, B, Warrington, Nm, White, S, Widén, E, Willemsen, G, Wilson, Jf, Yaghootkar, H, Zeggini, E, Elks, Ce, Perry, Jr, Sulem, P, Chasman, Di, Franceschini, N, He, C, Lunetta, Kl, Visser, Ja, Byrne, Em, Gudbjartsson, Df, Esko, T, Koller, Dl, Kutalik, Z, Lin, P, Mangino, M, Marongiu, M, Mcardle, Pf, Smith, Av, Stolk, L, van Wingerden, Sh, Zhao, Jh, Albrecht, E, Corre, T, Ingelsson, E, Hayward, C, Magnusson, Pk, Smith, En, Ulivi, S, Warrington, M, Zgaga, L, Alavere, H, Amin, N, Aspelund, T, Bandinelli, S, Barroso, I, Berenson, G, Bergmann, S, Blackburn, H, Boerwinkle, E, Buring, Je, Busonero, F, Campbell, H, Chanock, Sj, Chen, W, Cornelis, Mc, Couper, D, Coviello, Ad, D'Adamo, ADAMO PIO, de Faire, U, de Geus, Ej, Deloukas, P, Döring, A, Davey Smith, G, Easton, Df, Eiriksdottir, G, Emilsson, V, Eriksson, J, Ferrucci, L, Folsom, Ar, Foroud, T, Garcia, M, Gasparini, Paolo, Gieger, C, Gudnason, V, Hall, P, Hankinson, Se, Ferreli, L, Heath, Ac, Hernandez, Dg, Hofman, A, Hu, Fb, Illig, T, Järvelin, Mr, Johnson, Ad, Karasik, D, Khaw, Kt, Kiel, Dp, Kolcic, I, Kraft, P, Launer, Lj, Laven, J, Li, S, Liu, J, Levy, D, Martin, Ng, Mcardle, Wl, Mooser, V, Murray, S, Nalls, Ma, Navarro, P, Nelis, M, Ness, Ar, Northstone, K, Oostra, Ba, Peacock, M, Palotie, A, Paré, G, Parker, An, Pedersen, Nl, Peltonen, L, Pharoah, P, Polasek, O, Plump, A, Pouta, A, Porcu, E, Rafnar, T, Rice, Jp, Ring, Sm, Rivadeneira, F, Rudan, I, Sala, C, Salomaa, V, Sanna, S, Schlessinger, D, Schork, Nj, Scuteri, A, Segrè, Av, Shuldiner, Ar, Soranzo, N, Srinivasan, Sr, Tammesoo, Ml, Tikkanen, E, Toniolo, D, Tsui, K, Tryggvadottir, L, Tyrer, J, Uda, M, van Dam, Rm, van Meurs, Jb, Vollenweider, P, Waeber, G, Wareham, Nj, Waterworth, Dm, Weedon, Mn, Wichmann, He, Wright, Af, Young, L, Zhai, G, Zhuang, Wv, Bierut, Lj, Boyd, Ha, Crisponi, L, Demerath, Ew, van Duijn, Cm, Econs, Mj, Harris, Tb, Hunter, Dj, Loos, Rj, Metspalu, A, Montgomery, Gw, Ridker, Pm, Spector, Td, Streeten, Ea, Stefansson, K, Thorsteinsdottir, U, Widen, E, Murabito, Jm, Murray, A., Hedebrand, Johannes (Beitragende*r), Hinney, Anke (Beitragende*r), Biological Psychology, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, EMGO+ - Lifestyle, Overweight and Diabetes, Neuroscience Campus Amsterdam - Brain Imaging Technology, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Faculteit Medische Wetenschappen/UMCG, Groningen Research Institute of Pharmacy, and Groningen Research Institute for Asthma and COPD (GRIAC)
Subjects: Male, Netherlands Twin Register (NTR), Genetic Linkage, Medizin, Gene Expression, Genome-wide association study, VARIANTS, Body Mass Index, 0302 clinical medicine, genetic linkage, Transforming Growth Factor beta, Neoplasms, molecular biology, genetics, Child, Genetics (clinical), Adiposity, 2. Zero hunger, 0303 health sciences, adiposity, Mitogen-Activated Protein Kinase 3, Association Studies Articles, Age Factors, ACHONDROPLASIA, General Medicine, Genome-Wide Association Study, pubertal height growth, pubertal timing, Phenotype, OBESITY, Menarche, body height, Female, Signal Transduction, medicine.medical_specialty, age factors, CHROMOSOME 16P11.2, Adolescent, BIRTH, Quantitative Trait Loci, 030209 endocrinology & metabolism, Context (language use), Biology, Childhood obesity, MENARCHE, Young Adult, 03 medical and health sciences, AGE, SDG 3 - Good Health and Well-being, Prepuberty, Internal medicine, Genetics, medicine, Humans, Molecular Biology, 030304 developmental biology, Sign, FACTOR RECEPTOR-3, MUTATIONS, Puberty, ta3121, medicine.disease, Obesity, Body Height, Genetic architecture, Endocrinology, POPULATION COHORT, gene expression, Body mass index, Follow-Up Studies
Abstract: The pubertal height growth spurt is a distinctive feature of childhood growth reflecting both the central onset of puberty and local growth factors. Although little is known about the underlying genetics, growth variability during puberty correlates with adult risks for hormone-dependent cancer and adverse cardiometabolic health. The only gene so far associated with pubertal height growth, LIN28B, pleiotropically influences childhood growth, puberty and cancer progression, pointing to shared underlying mechanisms. To discover genetic loci influencing pubertal height and growth and to place them in context of overall growth and maturation, we performed genome-wide association meta-analyses in 18 737 European samples utilizing longitudinally collected height measurements. We found significant associations (P
Published: 2013
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20. Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair EDITORIAL COMMENT

Author: Day, FR, Ruth, KS, Thompson, DJ, Lunetta, KL, Pervjakova, N, Chasman, DI, Stolk, Lisette, Finucane, HK, Sulem, P, Bulik-Sullivan, B, Esko, T, Johnson, AD, Elks, CE, Franceschini, N, He, C, Altmaier, E, Brody, JA, Franke, LL, Huffman, JE, Keller, MF, McArdle, PF, Nutile, T, Porcu, E, Robino, A, Rose, LM, Schick, UM, Smith, JA, Teumer, A, Traglia, M, Vuckovic, D, Yao, J, Zhao, W, Albrecht, E, Amin, Najaf, Corre, T, Hottenga, JJ (Jouke Jan), Mangino, M, Smith, AV, Tanaka, T, Abecasis, GR, Andrulis, IL, Anton-Culver, H, Antoniou, AC, Arndt, V, Arnold, AM, Barbieri, C, Beckmann, MW, Beeghly-Fadiel, A, Benitez, J, Bernstein, L, Bielinski, SJ, Blomqvist, C, Boerwinkle, E, Bogdanova, NV, Bojesen, SE, Bolla, MK, Borresen-Dale, AL, Boutin, TS, Brauch, H, Brenner, H, Bruning, T, Burwinkel, B, Campbell, A (Archie), Campbell, H, Chanock, SJ, Chapman, JR, Chen, YDI, Chenevix-Trench, G, Couch, FJ, Coviello, AD, Cox, A, Czene, K, Darabi, H, de Vivo, I, Demerath, EW, Dennis, J, Devilee, P, Dork, T, dos-Santos-Silva, I, Dunning, AM, Eicher, JD, Fasching, PA, Faul, JD, Figueroa, J, Flesch-Janys, D, Gandin, I, Garcia, ME, Garcia-Closas, M, Giles, GG, Girotto, GG, Goldberg, MS, Gonzalez-Neira, A, Goodarzi, MO, Grove, ML, Gudbjartsson, DF, Guenel, P, Guo, XQ, Haiman, CA, Hall, P, Hamann, U, Henderson, BE, Hocking, LJ, Hofman, Bert, Homuth, G, Hooning, Maartje, Hopper, JL, Hu, FB, Huang, JY, Humphreys, K, Hunter, DJ, Jakubowska, A, Jones, SE, Kabisch, M, Karasik, D, Knight, JA, Kolcic, I, Kooperberg, C, Kosma, VM, Kriebel, J, Kristensen, V, Lambrechts, D, Langenberg, C, Li, JM, Li, X, Lindstrom, S, Liu, YM, Luan, JA, Lubinski, J, Magi, R, Mannermaa, A, Manz, J, Margolin, S, Marten, J, Martin, NG, Masciullo, C, Meindl, A, Michailidou, K, Mihailov, E, Milani, L, Milne, RL, Muller-Nurasyid, M, Nalls, M, Neale, BM, Nevanlinna, H, Neven, P, Newman, AB, Nordestgaard, BG, Olson, JE, Padmanabhan, S, Peterlongo, P, Peters, U, Petersmann, A, Peto, J, Pharoah, PDP, Pirastu, NN, Pirie, A, Pistis, G, Polasek, O, Porteous, D, Psaty, BM, Pylkas, K, Radice, P, Raffel, LJ, Rivadeneira, Fernando, Rudan, I, Rudolph, A, Ruggiero, D, Sala, CF, Sanna, S, Sawyer, EJ, Schlessinger, D, Schmidt, MK (Marjanka), Schmidt, F, Schmutzler, RK, Schoemaker, MJ, Scott, RA, Seynaeve, Caroline, Simard, J, Sorice, R, Southey, MC, Stockl, D, Strauch, K, Swerdlow, A, Taylor, KD, Thorsteinsdottir, U, Toland, AE, Tomlinson, I, Truong, T, Tryggvadottir, L, Turner, ST, Vozzi, D, Wang, Q (Qing), Wellons, M, Willemsen, G, Wilson, JF, Winqvist, R, Wolffenbuttel, BBHR, Wright, AF, Yannoukakos, D, Zemunik, T, Zheng, W, Zygmunt, M, Bergmann, S, Boomsma, DI, Buring, JE, Ferrucci, L, Montgomery, GW, Gudnason, V, Spector, TD, Duijn, Cornelia, Alizadeh, BZ, Ciullo, M, Crisponi, L, Easton, DF, Gasparini, PP, Gieger, C, Harris, TB, Hayward, C, Kardia, SLR, Kraft, P, McKnight, B, Metspalu, A, Morrison, AC, Reiner, AP, Ridker, PM, Rotter, JI, Toniolo, D, Uitterlinden, André, Ulivi, S, Volzke, H, Wareham, NJ, Weir, DR, Yerges-Armstrong, LM, Price, AL, Stefansson, K, Visser, Jenny, Ong, KK, Chang-Claude, J, Murabito, JM, Perry, JRB, Murray, A, Systems Ecology, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, Internal Medicine, Epidemiology, Medical Oncology, and Clinical Genetics
Subjects: SDG 3 - Good Health and Well-being
Published: 2015
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21. Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer

Author: Stacey, S.N., Kehr, B., Gudmundsson, J., Zink, F., Jonasdottir, A., Gudjonsson, S.A., Sigurdsson, A., Halldorsson, B.V., Agnarsson, B.A., Benediktsdottir, K.R., Aben, K.K.H., Vermeulen, S.H., Cremers, R.G., Panadero, A., Helfand, B.T., Cooper, P.R., Donovan, J.L., Hamdy, F.C., Jinga, V., Okamoto, I., Jonasson, J.G., Tryggvadottir, L., Johannsdottir, H., Kristinsdottir, A.M., Masson, G., Magnusson, O.T., Iordache, P.D., Helgason, A., Helgason, H., Sulem, P., Gudbjartsson, D.F., Kong, A., Jonsson, E., Barkardottir, R.B., Einarsson, G.V., Rafnar, T., Thorsteinsdottir, U., Mates, I.N., Neal, D.E., Catalona, W.J., Mayordomo, J.I., Kiemeney, L.A., Thorleifsson, G., Stefansson, K., Stacey, S.N., Kehr, B., Gudmundsson, J., Zink, F., Jonasdottir, A., Gudjonsson, S.A., Sigurdsson, A., Halldorsson, B.V., Agnarsson, B.A., Benediktsdottir, K.R., Aben, K.K.H., Vermeulen, S.H., Cremers, R.G., Panadero, A., Helfand, B.T., Cooper, P.R., Donovan, J.L., Hamdy, F.C., Jinga, V., Okamoto, I., Jonasson, J.G., Tryggvadottir, L., Johannsdottir, H., Kristinsdottir, A.M., Masson, G., Magnusson, O.T., Iordache, P.D., Helgason, A., Helgason, H., Sulem, P., Gudbjartsson, D.F., Kong, A., Jonsson, E., Barkardottir, R.B., Einarsson, G.V., Rafnar, T., Thorsteinsdottir, U., Mates, I.N., Neal, D.E., Catalona, W.J., Mayordomo, J.I., Kiemeney, L.A., Thorleifsson, G., and Stefansson, K.
Abstract: Contains fulltext : 172827.pdf (publisher's version ) (Open Access), Transcriptional and splicing anomalies have been observed in intron 8 of the CASP8 gene (encoding procaspase-8) in association with cutaneous basal-cell carcinoma (BCC) and linked to a germline SNP rs700635. Here, we show that the rs700635[C] allele, which is associated with increased risk of BCC and breast cancer, is protective against prostate cancer [odds ratio (OR) = 0.91, P = 1.0 x 10(-6)]. rs700635[C] is also associated with failures to correctly splice out CASP8 intron 8 in breast and prostate tumours and in corresponding normal tissues. Investigation of rs700635[C] carriers revealed that they have a human-specific short interspersed element-variable number of tandem repeat-Alu (SINE-VNTR-Alu), subfamily-E retrotransposon (SVA-E) inserted into CASP8 intron 8. The SVA-E shows evidence of prior activity, because it has transduced some CASP8 sequences during subsequent retrotransposition events. Whole-genome sequence (WGS) data were used to tag the SVA-E with a surrogate SNP rs1035142[T] (r(2) = 0.999), which showed associations with both the splicing anomalies (P = 6.5 x 10(-32)) and with protection against prostate cancer (OR = 0.91, P = 3.8 x 10(-7)).
Published: 2016

22. P53 mutation analysis of breast tumors from a large unselected cohort of BRCA2 mutation carriers and non carriers

Author: Gudlaugsdottir, S., Hilmarsdottir, H., Jonasson, J.G., Thorlacius, S., Olafsdottir, G., Tryggvadottir, L., Ogmundsdottir, H.M., and Eyfjord, J.E.
Subjects: Human genetics -- Research, Genetic disorders -- Research, Breast cancer -- Genetic aspects, Tumor suppressor genes -- Analysis, Biological sciences
Published: 2001

23. Childhood cancer survival in Europe

Author: Gatta, G., Corazziari, I., Magnani, C., Peris Bonet, R., Roazzi, P., Stiller, C., Oberaigner, W., Jechova, M., Rousarova, M., Storm, H. H., Aareleid, T., Hakulinen, T., Hédelin, G., Tron, I., Le Gall, E., Launoy, G., Macé Lesech, I., Faivre, I., Chaplain, G., Carli, P. M., Lacour, B., Raverdy, N., Berger, C., Freycon, F., Grosclaude, P., Estève, I., Kaatsch, P., Tryggvadottir, L., Berrino, F., Allemani, C., Baili, P., Ciccolallo, L., Micheli, A., Sant, M., Taussig, E., Capocaccia, R., Carrani, E., De Angelis, R., Hartley, S., Santaquilani, M., Tavilla, A., Valente, F., Verdecchia, A., Ferretti, S., Crosignani, P., Tagliabue, G., Conti, E., Vercelli, M., Pannelli, F., Mosciatti, P., Federico, Massimo, Artioli, M. E., De Lisi, V., Serventi, L., Pastore, G., Gafà, L., Tumino, R., Falcini, F., Budroni, M., Paci, E., Crocetti, E., Zambon, P., Guzzinati, S., Dalmas, M., Langmark, F., Andersen, A, Rachtan, J., Bielska Lasota, M., Wronkowski, Z., Zwierko, M., Pleško, I., Obsitníková, A., Pompe Kirn, V., Izarzugaza, I., Martinez Garcia, C., Garau, I., Navarro, C., Chirlaque, M. D., Ardanaz, E., Moreno, C., Galceran, J., Torrella, A., Barlow, L., Möller, T., Lutz, J. M., Usel, M., Coebergh, J. W. W., Van Der Does Van Den Berg, A., Visser, O., Coleman, M. P., Black, R., and Brewster, D.
Subjects: Male, Pediatrics, medicine.medical_specialty, Adolescent, Population, Disease, Malignancy, Childhood Cancer Survival Trends, Neoplasms, medicine, Humans, Child, education, education.field_of_study, business.industry, Incidence (epidemiology), Gold standard, Age Factors, Cancer, Hematology, medicine.disease, Survival Analysis, Childhood tumours, Europe, Population-based study, Survival variation, Lymphoma, Europe, Survival Rate, Oncology, Child, Preschool, Female, Major Diagnostic Category, business
Abstract: BACKGROUND: EUROCARE-3 collected data from 45 population-based cancer registries in 20 countries on 24 620 European children aged from 0 to 14 years diagnosed with malignancy in the period 1990-1994. METHODS: Five-year survival between countries was compared for all malignancies and for the major diagnostic categories, adjusting for age, and estimated average European survival weighting for differences in childhood populations. RESULTS: For all cancers combined, survival variation was large (45% in Estonia to 90% in Iceland), and was generally low (60-70%) in eastern Europe and high (> or =75%) in Switzerland, Germany and the Nordic countries (except Denmark). The Nordic countries had the highest survival for four of the seven major tumour types: nephroblastoma (92%), acute lymphoid leukaemia (85%), CNS tumours (73%) and acute non-lymphocytic leukaemia (62%). The eastern countries had lowest survival: 89% for Hodgkin's disease, 71% for nephroblastoma, 68% for acute lymphoid leukaemia, 61% for non-Hodgkin's lymphoma, 57% for central nervous system (CNS) tumours and 29% for acute non-lymphocytic leukaemia. CONCLUSIONS: The Nordic countries represent a survival gold standard to which other countries can aspire. Since most childhood cancers respond well to treatment, survival differences are attributable to differences in access (including referral and timely diagnosis) and use of modern treatments; however, the obstacles to access and application of standard treatments probably vary markedly with country.
Published: 2003
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24. EUROCARE-3: survival of cancer patients diagnosed 1990–94—results and commentary

Author: Sant, M., Aareleid, T., Berrino, F., Bielska Lasota, M., Carli, P. M., Faivre, J., Grosclaude, P., Hédelin, G., Matsuda, T., Møller, H., Möller, T., Verdecchia, A., Capocaccia, R., Gatta, G., Micheli, A., Santaquilani, M., Roazzi, P., Lisi, D., Oberaigner, W., Jechova, M., Rousarova, M., Storm, H. H., Hakulinen, T., Tron, I., Le Gall, E., Launoy, G., Macé Lesech, J., Chaplain, G., Danzon, A., Tretarre, B., Colonna, M., Lacour, B., Raverdy, N., Berger, C., Freycon, F., Estève, J., Kaatsch, P., Ziegler, H., Hölzel, D., Schubert Fritschle, G., Tryggvadottir, L., Allemani, C., Baili, P., Ciccolallo, L., Taussig, E., Carrani, E., De Angelis, R., Hartley, S., Tavilla, A., Valente, F., Ferretti, S., Crosignani, P., Contiero, P., Conti, E., Vercelli, M., Pannelli, F., Vitarelli, S., Mosciatti, P., Federico, Massimo, Artioli, M. E., PONZ DE LEON, Maurizio, Benatti, Piero, De Lisi, V., Serventi, L., Zanetti, R., Patriarca, S., Magnani, C., Pastore, G., Gafà, Aw, L., Tumino, R., Falcini, F., Budroni, M., Paci, E., Crocetti, E., Zambon, P., Guzzinati, S., Dalmas, M., Langmak, F., Andersen, A., Rachtan, J., Wronkowski, Z., Zwierko, M., Pinheiro, P. S., Pleško, I., Obsitníková, A., Pompe Kirn, V., Izarzugaza, I., Martinez Garcia, C., Garau, I., Navarro, C., Chirlaque, M. D., Ardanaz, E., Moreno, C., Galceran, J., Torrella, A., Peris Bonet, R., Barlow, L., Jundt, G., Lutz, J. M., Usel, M., Coebergr, J. W. W., Van Der Does Van Den Berg, A., Visser, O., Godward, S., Coleman, M. P., Williams, E. M. I., Forman, D., Quinn, M. J., Roche, M., Edwards, S., Stiller, C., Verne, J., Bell, J., Botha, J. L., Lawrence, G., Black, R., Brewster, D., and Steward, J. A.
Subjects: Male, Urologic Neoplasms, medicine.medical_specialty, Lung Neoplasms, Skin Neoplasms, Genital Neoplasms, Female, Breast Neoplasms, Digestive System Neoplasms, Sex Factors, Case mix index, Testicular Neoplasms, Neoplasms, Internal medicine, Epidemiology, medicine, Humans, Registries, Thyroid Neoplasms, cancer survival, Survival rate, Testicular cancer, Survival analysis, Brain Neoplasms, business.industry, Prostatic Neoplasms, Cancer, Hematology, medicine.disease, Survival Analysis, Age-standardised relative survival, Cancer survival, Europe, International comparison, Population-based cancer registries, Lymphoma, Surgery, Europe, Survival Rate, Oncology, Head and Neck Neoplasms, Hematologic Neoplasms, Female, business
Abstract: EUROCARE-3 analysed the survival of 1815584 adult cancer patients diagnosed from 1990 to 1994 in 22 European countries. The results are reported in tables, one per cancer site, coded according to the International Classification of Diseases (ICD)-9 classification. The main findings of the tables are summarised and commented on in this article. For most solid cancers, wide differences in survival between different European populations were found, as also reported by EUROCARE-1 and EUROCARE-2, despite a remarkable (10%) overall increase in cancer survival from 1985 to 1994. Survival was highest in northern Europe (Sweden, Norway, Finland and Iceland), and fairly good in central-southern Europe (France, Switzerland, Austria and Spain). Survival was particularly low in eastern Europe, low in Denmark and the UK, and fairly low in Portugal and Malta. The mix of tumour stage at diagnosis explains much of the survival differences for cancers of the digestive tract, female reproductive system, breast, thyroid, and also skin melanoma. For tumours of the urinary tract and prostate, the differences were explained mainly by differences in diagnostic criteria and procedures. The case mix by anatomic subsite largely explains differences in survival for head and neck cancers. For oesophagus, pancreas, liver and brain cancer, with poor prognoses, survival differences were limited. Tumours, for which highly effective treatments are available, such as testicular cancer, Hodgkin's lymphoma and some haematological malignancies, had fairly uniform survival across Europe. Survival for all tumours combined (an indicator of the overall cancer care performance of a nation's health system) was better in young than old patients, and better in women than men. The affluence of countries influenced overall cancer survival through the availability of adequate diagnostic and treatment procedures, and screening programmes.
Published: 2003
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25. EUROCARE-3 summary: cancer survival in Europe at the end of the 20th century

Author: Coleman, M. P., Gatta, G., Verdecchia, A., Estève, J., Sant, M., Storm, H., Allemani, C., Ciccolallo, L., Santaquilani, M., Berrino, F., Oberaigner, W., Jechova, M., Rousarova, M., Storm, H. H., Aareleid, T., Hakulinen, T., Hédelin, G., Tron, I., Le Gall, E., Launoy, G., Macé Lesec'h, J., Faivre, J., Chaplain, G., Carl, P. M., Danzon, A., Tretarre, B., Colonna, M., Lacour, B., Raverdy, N., Berger, C., Freycon, F., Grosclaude, P., Estèv, Z, Kaatsch, P., Ziegler, H., Hölzel, D., Schubert Fritschle, G., Tryggvadottir, L., Baili, P., Micheli, A., Taussig, E., Capocaccia, R., Carrani, E., De Angelis, R., Hartley, S., Roazzi, P., Tavilla, A., Valente, F., Ferretti, S., Crosignani, P., Contiero, P., Conti, E., Vercelli, M., Pannelli, F., Vitarelli, S., Mosciatti, P., Federico, Massimo, Artioli, M. E., PONZ DE LEON, Maurizio, Benatti, Piero, De Lisi, V., Serventi, L., Zanetti, R., Patriarca, S., Magnani, C., Pastore, G., Gafà, L., Tumino, R., Falcini, F., Budroni, M., Paci, E., Crocetti, E., Zambon, P. Guzzinati S., Dalmas, M., Langmark, F., Andersen, A., Rachtan, J., Bielska Lasota, M., Wronkowski, Z., Zwierko, M., Pinheiro, P. S., Pleško, I., Obsitníková, A., Pompe Kirn, V., Izarzugaza, I., Martinez Garcia, C., Garau, I., Navarro, C., Chirlaque, M. D., Ardanaz, E., Moreno, C., Galceran, J., Torrella, A., Peris Bonet, R., Barlow, L., Möller, T., Jundt, G. Lutz J. M., Usel, M., Coebergh, J. W. W., Van Der Does Van Den Berg, A., Visser, O., Godward, S., Williams, E. M. I., Forman, D., Quinn, M. J., Roche, M., Edwards, S., Stiller, C., Verne, J., Møller, H., Bell, J., Botha, J. L., Lawrence, G., Black, R., Brewster, D., Steward, J. A., Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], Pathology, medicine.medical_specialty, population-based cancer registries, Lung Neoplasms, Skin Neoplasms, Population, Uterine Cervical Neoplasms, Breast Neoplasms, Disease, Sex Factors, Testicular Neoplasms, Stomach Neoplasms, Neoplasms, Epidemiology, Health care, Humans, Medicine, Registries, cancer survival, Child, education, Survival rate, Survival analysis, education.field_of_study, business.industry, Age Factors, international comparison, Prostatic Neoplasms, Cancer, Hematology, medicine.disease, Survival Analysis, Cancer survival, Europe, Survival Rate, Oncology, Colonic Neoplasms, Female, Observational study, business, Demography
Abstract: Summary International differences and trends in cancer survival withinEurope are larger than can reasonably be accounted for by arte-fact, bias or chance. The geographical patterns and trends in sur-vival are often broadly consistent with geographical differences ortrends in the type of cancer, diagnostic investigations or overallinvestment in health care, and for several major cancers, support-ing evidence is available from population-based studies of clinicalinformation. Incomplete ascertainment of cancer cases, particu-larly of long-term survivors, may contribute to some regional andinternational differences in survival, however, and more system-atic information on completeness is required. We may concludethat large international differences in survival do exist for manycancers, but we should be cautious in drawing quantitative orcausal conclusions from observational survival data.We do not yet have a fully satisfactory interpretation of thesedifferences, but we have few alternatives to this type of study if weare to understand the determinants of improved outcome for allcancer patients, and to enable better planning of their health care.The EUROCARE Working Group has developed several strategiesto disentangle the various possible explanations [73]. These includefurther development of high-resolution studies to examine theimpact on survival differences of disease stage, staging techniquesand treatment; and further development of mathematical modelsof cure. Extension of systematic international survival compari-sons to other regions of the world, such as Australia, Canada, Japanand the USA, is also in progress (the CONCORD study) [22].Oncologists and epidemiologists may provide insight into thegeographic differences and trends in survival reported by thisstudy, and may suggest further lines of enquiry. Do we need morerefined studies of survival to monitor progress against cancer andto plan future cancer care? Will such analyses help us quantify theeffect of new treatments arising from recent progress in the basicsciences and genomics on population cancer survival rates? Sub-stantial human and financial resources are required to improve theoutcome of cancer treatment. Will future investments in cancerservices include matching investment to monitor their impact onsurvival and mortality?Earlier diagnosis and prompt, universal access to optimal treat-ment would be expected to reduce international differences incancer survival in Europe. To achieve this, oncologists and healthcare planners will need better information on the comparativeperformance of their health systems. Population-based cancer reg-istries provide some of the information for such comparisons, buttheir traditional output may no longer be sufficient to evaluate theeffectiveness of health systems, and especially to explain geo-graphical differences in survival. In some countries, their role isalso under threat. Confidentiality constraints recently inhibitedthe collection of cancer registration data in the UK [90], and thelinkage of cancer registrations and deaths is currently illegal inEstonia [91]. Both activities are essential for internationally com-parable survival rates. Legal protection for cancer registrationacross Europe will be required.The mission of cancer registries should be reconsidered, and thepriority shifted from classical descriptive epidemiology and geo-graphical pathology toward more analytical monitoring ofprogress against cancer, including the probability of survival andcure, the burden of cancer prevalence, and the late effects oftherapy. Several European studies of this type have been reportedrecently [3, 36, 9294] and others are in progress. Many cancer–registries are developing closer relationships with cancer clini-cians and general practitioners, and some now systematicallycollect detailed clinical information that was collected eitherirregularly or not at all in the past. These developments willimprove the power of population-based cancer data to explain dif-ferences in cancer survival, and should enhance their relevance toclinical practice.European average survival rates are useful for comparativepurposes, but they should not become the goal for cancer controlprogrammes: the benchmark should always be the highest achiev-able survival rates.The aim of exploring geographic differences in cancer survivalis not to establish international league tables or to excite nationalrivalries, but to estimate the range of survival rates, and to identifyregions or countries in which survival could be improved.
Published: 2003
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26. Descriptive epidemiology of Kaposi sarcoma in Europe. Report from the RARECARE project

Author: Stiller, C. A, Trama, A., Brewster, D. H., Verne, J., Bouchardy, C., Navarro, C., Chirlaque, M. D., Marcos Gragera, R., Visser, O., Serraino, D., Weiderpass, E., Dei Tos, A. P., Ascoli, V., Zielonk, N., Van Eycken, E., Sundseth, H., Hedelin, G., Bouvier, A. M., Woronoff, A. S., Buemi, A., Tretarre, B., Colonna, M., Bara, S., Ganry, O., Grosclaude, P., Baconnier, S., Holleczek, B., Geissler, J., Wartenberg, M., Tryggvadottir, L., Deady, S., Bellu, F., Ferretti, Stefano, Vercelli, M., Vitarelli, S., Federico, M., Fusco, M., Michiara, M., Giacomin, A., Tumino, R., Mangone, L., Falcini, F., Senatore, G., Budroni, M., Piffer, S., Crocetti, E., La Rosa, F., Tagliabue, G., Zambon, P., Gatta, G., Gronchi, A., Licitra, L., Ruzza, M., Sowe, S., Capocaccia, R., De Angelis, R., Mallone, S., Tavilla, A., England, K., Ursin, G., Rachtan, J., Gozdz, S., Zwierko, M., Bielska Lasota, M., Slowinski, J., Miranda, A., Safaei Diba, C., Primic Zakelj, M., Mateos, A., Bidaurrazaga, J., Torrella Ramos, A., Ardanaz, E., Galceran, J., Martinez Garcia, C., Sanchez Perez, M. J., Melchor, J. M., Adolfsson, J., Lambe, M., Möller, T. R., Ringborg, U., Jundt, G., Usel, M., Ess, S. M., Spitale, A., Konzelmann, I., Lutz, J. M., Coebergh, J. W. W., Otter, R., Siesling, S., van der Zwan, J. M., Schouten, H., Greenberg, D. C., Wilkinson, J., Roche, M., Meechan, D., Lawrence, G., Mackay, J., Gavin, A., Kunkler, I., and White, C.
Subjects: Adult, Male, Pediatrics, medicine.medical_specialty, Cancer Research, Survival, Epidemiology, Population, Socio-culturale, Kaposi, Bone Sarcoma, Acquired immunodeficiency syndrome (AIDS), medicine, Prevalence, Humans, Rare cancers, education, Sarcoma, Kaposi, ddc:613, Aged, Population-based study, education.field_of_study, Europe, Incidence, Kaposi sarcoma, Female, Middle Aged, Survival Analysis, Oncology, Medicine (all), Classic Kaposi Sarcoma, Relative survival, business.industry, Incidence (epidemiology), Cancer, Sarcoma, medicine.disease, Surgery, business
Abstract: Kaposi sarcoma (KS) is a virus-related malignancy which most frequently arises in skin, though visceral sites can also be involved. Infection with Kaposi sarcoma herpes virus (KSHV or HHV-8) is required for development of KS. Nowadays, most cases worldwide occur in persons who are immunosuppressed, usually because of HIV infection or as a result of therapy to combat rejection of a transplanted organ, but classic Kaposi sarcoma is predominantly a disease of the elderly without apparent immunosuppression. We analyzed 2667 KS incident cases diagnosed during 1995-2002 and registered by 75 population-based European cancer registries contributing to the RARECARE project. Total crude and age-standardized incidence rate was 0.3 per 100,000 per year with an estimated 1642 new cases per year in the EU27 countries. Age-standardized incidence rate was 0.8 per 100,000 in Southern Europe but below 0.3 per 100,000 in all other regions. The elevated rate in southern Europe was attributable to a combination of classic Kaposi sarcoma in some Mediterranean countries and the relatively high incidence of AIDS in several countries. Five-year relative survival for 2000-2002 by the period method was 75%. More than 10,000 persons were estimated to be alive in Europe at the beginning of 2008 with a past diagnosis of KS. The aetiological link with suppressed immunity means that many people alive following diagnosis of KS suffer comorbidity from a pre-existing condition. While KS is a rare cancer, it has a relatively good prognosis and so the number of people affected by it is quite large. Thus it provides a notable example of the importance of networking in diagnosis, therapy and research for rare cancers.
Published: 2014

27. Abstract P3-09-02: Early life residence, fish consumption and risk of breast cancer

Author: Haraldsdottir, A, primary, Torfadottir, JE, additional, Valdimarsdottir, UA, additional, Aspelund, T, additional, Tryggvadottir, L, additional, Launer, LJ, additional, Harris, TB, additional, Gudnason, V, additional, and Steingrimsdottir, L, additional
Published: 2016
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28. New genetic loci link adipose and insulin biology to body fat distribution.

Author: ADIPOGen Consortium, CARDIOGRAMplusC4D Consortium, CKDGen Consortium, GEFOS Consortium, GENIE Consortium, International Endogene Consortium, LifeLines Cohort Study, MAGIC Investigators, MuTHER Consortium, PAGE Consortium, ReproGen Consortium, GLGC, ICBP, Dastani, Z., Hivert, MF., Timpson, N., Perry, JR., Yuan, X., Scott, RA., Henneman, P., Heid, IM., Kizer, JR., Lyytikainen, LP., Fuchsberger, C., Tanaka, T., Morris, AP., Small, K., Isaacs, A., Beekman, M., Coassin, S., Lohman, K., Qi, L., Kanoni, S., Pankow, JS., Uh, HW., Wu, Y., Bidulescu, A., Rasmussen-Torvik, LJ., Greenwood, CM., Ladouceur, M., Grimsby, J., Manning, AK., Liu, CT., Kooner, J., Mooser, VE., Vollenweider, P., Kapur, KA., Chambers, J., Wareham, NJ., Langenberg, C., Frants, R., Willemsvan-vanDijk, K., Oostra, BA., Willems, SM., Lamina, C., Winkler, T., Psaty, BM., Tracy, RP., Brody, J., Chen, I., Viikari, J., Kähönen, M., Pramstaller, PP., Evans, DM., St Pourcain, B., Sattar, N., Wood, A., Bandinelli, S., 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Macgregor, S., Missmer, SA., Montgomery, GW., Nyholt, DR., Painter, JN., Roseman, F., Treloar, SA., Visscher, PM., Wallace, L., Zondervan, KT., Alizadeh, B., de Boer RA., Boezen, HM., Bruinenberg, M., Franke, L., Hillege, HL., van der Klauw MM., Ormel, J., Postma, DS., Rosmalen, JG., Slaets, JP., Stolk, RP., Lagou, V., Welch, RP., Wheeler, E., Rehnberg, E., Yengo£££Loïc£££ L., Lecoeur, C., Johnson, PC., Mahajan, A., Verweij, N., Hottenga, JJ., Sennblad, B., Salo, P., Timpson, NJ., Hui, J., Bielak, LF., Zhao, W., Horikoshi, M., Navarro, P., Esko, T., Fall, T., Chen, H., Robertson, N., Rybin, D., Chines, PS., Song, K., An, P., Marullo, L., Jansen, H., Oldehinkel, AJ., North, KE., Forouhi, NG., Edkins, S., Varga, TV., Oksa, H., Antonella, M., Kong, A., Herder, C., Antti, J., Miljkovic, I., Atalay, M., Kiess, W., James, AL., Smit, JH., Campbell, S., Fowkes, GR., Basart, HV., Rathmann, W., Maerz, W., Province, MA., Watanabe, RM., de Geus EJ., Penninx, BW., Oostra, B., Toenjes, A., Peyser, PA., Körner, A., Keinanen-Kiukaanniemi, SM., Saaristo, TE., Boomsma, D., Cucca, F., Balkau, B., Froguel, P., Jarvelin, MR., Bouatia-Naji, N., Ahmadi, KR., Ainali, C., Barrett, A., Bataille, V., Bell, JT., Buil, A., Dermitzakis, ET., Dimas, AS., Durbin, R., Glass, D., Hassanali, N., Hedman£££Åsa K£££ ÅK., Ingle, C., Keildson, S., Knowles, D., Krestyaninova, M., Lowe, CE., Meduri, E., di Meglio, P., Min, JL., Montgomery, SB., Nestle, FO., Nica, AC., Nisbet, J., O'Rahilly, S., Parts, L., Potter, S., Sekowska, M., Shin, SY., Small, KS., Surdulescu, G., Travers, ME., Tsaprouni, L., Tsoka, S., Wilk, A., Matise, T., Buyske, S., Higashio, J., Williams, R., Nato, A., Ambite, JL., Deelman, E., Manolio, T., Hindorff, L., Heiss, G., Taylor, K., Avery, C., Graff, M., Lin, D., Quibrera, M., Cochran, B., Kao, L., Umans, J., Cole, S., MacCluer, J., Person, S., Pankow, J., Gross, M., Fornage, M., Durda, P., Jenny, N., Patsy, B., Arnold, A., Buzkova, P., Crawford, D., Haines, J., Murdock, D., Glenn, K., Brown-Gentry, K., Thornton-Wells, T., Dumitrescu, L., Jeff, J., Bush, WS., Mitchell, SL., Goodloe, R., Wilson, S., Boston, J., Malinowski, J., Restrepo, N., Oetjens, M., Fowke, J., Zheng, W., Spencer, K., Ritchie, M., Pendergrass, S., Le Marchand£££Loïc£££ L., Wilkens, L., Park, L., Tiirikainen, M., Kolonel, L., Lim, U., Cheng, I., Wang, H., Shohet, R., Haiman, C., Stram, D., Henderson, B., Monroe, K., Schumacher, F., Peters, U., Anderson, G., Carlson, C., Prentice, R., LaCroix, A., Wu, C., Carty, C., Gong, J., Rosse, S., Young, A., Haessler, J., Kocarnik, J., Lin, Y., Jackson, R., Duggan, D., Kuller, L., Stolk, L., He, C., Sulem, P., Barbalic, M., Broer, L., Byrne, EM., Gudbjartsson, DF., McArdle, PF., Porcu, E., van Wingerden, S., Zhuang, W., Albrecht, E., Alizadeh, BZ., Lauc, LB., Broekmans, FJ., Burri, A., Chanock, SJ., Chen, C., Corre, T., Coviello, AD., d'Adamo, P., Davies, G., Deary, IJ., Ebrahim, S., Fauser, BC., Ferreli, L., Folsom, AR., Garcia, ME., Hall, P., Haller, T., Hankinson, SE., Hass, M., Heath, AC., Janssens, AC., Keyzer, J., Lahti, J., Lai, S., Laisk, T., Laven, JS., Liu, J., Lopez, LM., Louwers, YV., Marongiu, M., Klaric, IM., Masciullo, C., McKnight, B., Medland, SE., Melzer, D., Newman, AB., Paré, G., Peeters, PH., Plump, AS., Pop, VJ., Räikkönen, K., Salumets, A., Smith, JA., Stacey, SN., Starr, JM., Stathopoulou, MG., Tenesa, A., Thorand, B., Tryggvadottir, L., Tsui, K., van Dam RM., van Gils CH., van Nierop, P., Vink, JM., Voorhuis, M., Wallaschofski, H., Widen, E., Wijnands-van Gent CJ., Zgaga, L., Zygmunt, M., Arnold, AM., Buring, JE., Crisponi, L., Demerath, EW., Hunter, DJ., Schlessinger, D., Murray, A., Murabito, JM., Visser, JA., Lunetta, KL., Elks, CE., Cousminer, DL., Feenstra, B., Lin, P., van Wingerden SW., Smith, EN., Warrington, NM., Alavere, H., Barroso, I., Berenson, GS., Blackburn, H., Busonero, F., Chen, W., Couper, D., Easton, DF., Foroud, T., Geller, F., Hernandez, DG., Kilpeläinen, TO., Li, S., Melbye, M., Murray, JC., Murray, SS., Nelis, M., Ness, AR., Northstone, K., Pennell, CE., Pharoah, P., Rafnar, T., Rice, JP., Ring, SM., Schork, NJ., Segrè, AV., Sovio, U., Srinivasan, SR., Tammesoo, ML., Tyrer, J., Weedon, MN., Wichmann, H., Young, L., Zhuang, WV., Bierut, LJ., Boyd, HA., Winkler, T.W., Croteau-Chonka, D.C., Locke, A.E., Strawbridge, R.J., Pers, T.H., Justice, A.E., Workalemahu, T., Wu, J.M., Buchkovich, M.L., Heard-Costa, N.L., Roman, T.S., Drong, A.W., Day, F.R., Luan, J., Randall, J.C., Scherag, A., Wood, A.R., Fehrmann, R., Karjalainen, J., Kahali, B., Liu, C.T., Schmidt, E.M., Anderson, D., Bragg-Gresham, J.L., Ehret, G.B., Feitosa, M.F., Jackson, A.U., Kleber, M.E., Mateo Leach, I., Medina-Gomez, C., Palmer, C.D., Pasko, D., Pechlivanis, S., Peters, M.J., Ju Sung, Y., Van Vliet-Ostaptchouk, J.V., Yengo, L., Arscott, G.M., Bellis, C., Bennett, A.J., Berne, C., Blüher, M., Bonnet, F., Böttcher, Y., Carba, D.B., Caspersen, I.H., Daw, E.W., Deelen, J., Delgado, G., Doney, A.S., Eklund, N., Erdos, M.R., Eury, E., Friedrich, N., Garcia, M.E., Giedraitis, V., Go, A.S., Golay, A., Grammer, T.B., Gräßler, J., Grewal, J., Groves, C.J., Hartman, C.A., Hassinen, M., Herzig, K.H., Helmer, Q., Hillege, H.L., Holmen, O., Hunt, S.C., Ittermann, T., James, A.L., Johansson, I., Juliusdottir, T., Kalafati, I.P., Kinnunen, L., Kooner, I.K., Lee, N.R., Lichtner, P., Lobbens, S., Magnusson, P.K., McArdle, W.L., Menni, C., Merger, S., Milani, L., Mills, R., Monda, K.L., Mooijaart, S.P., Mühleisen, T.W., Mulas, A., Nalls, M.A., Glorioso, N., Nolte, I.M., Rayner, N.W., Renstrom, F., Ried, J.S., Robertson, N.R., Rose, L.M., Scholtens, S., Seufferlein, T., Sitlani, C.M., Vernon Smith, A., Stringham, H.M., Sundström, J., Swertz, M.A., Swift, A.J., Syvänen, A.C., Tayo, B.O., Tomaschitz, A., Troffa, C., van Oort, F.V., Vonk, J.M., Waite, L.L., Wennauer, R., Wojczynski, M.K., Zhang, Q., Hua Zhao, J., Brennan, E.P., Choi, M., Gharavi, A.G., Hedman, Å.K., Hivert, M.F., Huang, J., Karpe, F., Kiryluk, K., Liang, L., Lifton, R.P., Ma, B., McKnight, A.J., McPherson, R., Min, J.L., Moffatt, M.F., Montgomery, G.W., Murabito, J.M., Nicholson, G., Nyholt, D.R., Olsson, C., Perry, J.R., Reinmaa, E., Salem, R.M., Schadt, E.E., Scott, R.A., Vallejo, E.E., Westra, H.J., Zondervan, K.T., Bakker, S.J., Beilby, J., Bergman, R.N., Blangero, J., Brown, M.J., Chines, P.S., Collins, F.S., Crawford, D.C., de Geus, E.J., Erbel, R., Eriksson, J.G., Ferrannini, E., Forouhi, N.G., Franco, O.H., Gansevoort, R.T., Haiman, C.A., Harris, T.B., Hattersley, A.T., Heliövaara, M., Hicks, A.A., Hingorani, A.D., Hoffmann, W., Humphries, S.E., Jarvelin, M.R., Johansen, B., Jousilahti, P., Jula, A.M., Keinanen-Kiukaanniemi, S.M., Kooner, J.S., Kraja, A.T., Lakka, T.A., Le Marchand, L., Lyssenko, V., Männistö, S., Marette, A., Matise, T.C., McKenzie, C.A., Musk, A.W., Möhlenkamp, S., Morris, A.D., Oldehinkel, A.J., Ong, K.K., Palmer, L.J., Penninx, B.W., Pramstaller, P.P., Raitakari, O.T., Rankinen, T., Rao, D.C., Rice, T.K., Ridker, P.M., Ritchie, M.D., Samani, N.J., Sarzynski, M.A., Schwarz, P.E., Shuldiner, A.R., Staessen, J.A., Steinthorsdottir, V., Stolk, R.P., Strauch, K., Tremblay, A., Vohl, M.C., Wilson, J.F., Witteman, J.C., Adair, L.S., Boehm, B.O., Bornstein, S.R., Bouchard, C., Cauchi, S., Caulfield, M.J., Chambers, J.C., Chasman, D.I., Cooper, R.S., Grabe, H.J., Jöckel, K.H., Munroe, P.B., Oostra, B.A., Palmer, C.N., Pedersen, N.L., Pérusse, L., Saaristo, T.E., Slagboom, P.E., Spector, T.D., Uitterlinden, A.G., Veronesi, G., Walker, M., Wareham, N.J., Wichmann, H.E., Abecasis, G.R., Assimes, T.L., Berndt, S.I., Borecki, I.B., Frayling, T.M., Groop, L.C., Hunter, D.J., Kaplan, R.C., O'Connell, J.R., Strachan, D.P., van Duijn, C.M., Willer, C.J., Visscher, P.M., Yang, J., Hirschhorn, J.N., Zillikens, M.C., McCarthy, M.I., Speliotes, E.K., North, K.E., Fox, C.S., Franks, P.W., Heid, I.M., Loos, R.J., Cupples, L.A., Morris, A.P., Lindgren, C.M., and Mohlke, K.L.
Abstract: Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
Published: 2015

29. Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Author: Day, FR, Ruth, KS, Thompson, DJ, Lunetta, KL, Pervjakova, N, Chasman, DI, Stolk, L, Finucane, HK, Sulem, P, Bulik-Sullivan, B, Esko, T, Johnson, AD, Elks, CE, Franceschini, N, He, C, Altmaier, E, Brody, JA, Franke, LL, Huffman, JE, Keller, MF, McArdle, PF, Nutile, T, Porcu, E, Robino, A, Rose, LM, Schick, UM, Smith, JA, Teumer, A, Traglia, M, Vuckovic, D, Yao, J, Zhao, W, Albrecht, E, Amin, N, Corre, T, Hottenga, J-J, Mangino, M, Smith, AV, Tanaka, T, Abecasis, GR, Andrulis, IL, Anton-Culver, H, Antoniou, AC, Arndt, V, Arnold, AM, Barbieri, C, Beckmann, MW, Beeghly-Fadiel, A, Benitez, J, Bernstein, L, Bielinski, SJ, Blomqvist, C, Boerwinkle, E, Bogdanova, NV, Bojesen, SE, Bolla, MK, Borresen-Dale, A-L, Boutin, TS, Brauch, H, Brenner, H, Bruening, T, Burwinkel, B, Campbell, A, Campbell, H, Chanock, SJ, Chapman, JR, Chen, Y-DI, Chenevix-Trench, G, Couch, FJ, Coviello, AD, Cox, A, Czene, K, Darabi, H, De Vivo, I, Demerath, EW, Dennis, J, Devilee, P, Doerk, T, dos-Santos-Silva, I, Dunning, AM, Eicher, JD, Fasching, PA, Faul, JD, Figueroa, J, Flesch-Janys, D, Gandin, I, Garcia, ME, Garcia-Closas, M, Giles, GG, Girotto, GG, Goldberg, MS, Gonzalez-Neira, A, Goodarzi, MO, Grove, ML, Gudbjartsson, DF, Guenel, P, Guo, X, Haiman, CA, Hall, P, Hamann, U, Henderson, BE, Hocking, LJ, Hofman, A, Homuth, G, Hooning, MJ, Hopper, JL, Hu, FB, Huang, J, Humphreys, K, Hunter, DJ, Jakubowska, A, Jones, SE, Kabisch, M, Karasik, D, Knight, JA, Kolcic, I, Kooperberg, C, Kosma, V-M, Kriebel, J, Kristensen, V, Lambrechts, D, Langenberg, C, Li, J, Li, X, Lindstroem, S, Liu, Y, Luan, J, Lubinski, J, Maegi, R, Mannermaa, A, Manz, J, Margolin, S, Marten, J, Martin, NG, Masciullo, C, Meindl, A, Michailidou, K, Mihailov, E, Milani, L, Milne, RL, Mueller-Nurasyid, M, Nalls, M, Neale, BM, Nevanlinna, H, Neven, P, Newman, AB, Nordestgaard, BG, Olson, JE, Padmanabhan, S, Peterlongo, P, Peters, U, Petersmann, A, Peto, J, Pharoah, PDP, Pirastu, NN, Pirie, A, Pistis, G, Polasek, O, Porteous, D, Psaty, BM, Pylkas, K, Radice, P, Raffel, LJ, Rivadeneira, F, Rudan, I, Rudolph, A, Ruggiero, D, Sala, CF, Sanna, S, Sawyer, EJ, Schlessinger, D, Schmidt, MK, Schmidt, F, Schmutzler, RK, Schoemaker, MJ, Scott, RA, Seynaeve, CM, Simard, J, Sorice, R, Southey, MC, Stoeckl, D, Strauch, K, Swerdlow, A, Taylor, KD, Thorsteinsdottir, U, Toland, AE, Tomlinson, I, Truong, T, Tryggvadottir, L, Turner, ST, Vozzi, D, Wang, Q, Wellons, M, Willemsen, G, Wilson, JF, Winqvist, R, Wolffenbuttel, BBHR, Wright, AF, Yannoukakos, D, Zemunik, T, Zheng, W, Zygmunt, M, Bergmann, S, Boomsma, DI, Buring, JE, Ferrucci, L, Montgomery, GW, Gudnason, V, Spector, TD, van Duijn, CM, Alizadeh, BZ, Ciullo, M, Crisponi, L, Easton, DF, Gasparini, PP, Gieger, C, Harris, TB, Hayward, C, Kardia, SLR, Kraft, P, McKnight, B, Metspalu, A, Morrison, AC, Reiner, AP, Ridker, PM, Rotter, JI, Toniolo, D, Uitterlinden, AG, Ulivi, S, Voelzke, H, Wareham, NJ, Weir, DR, Yerges-Armstrong, LM, Price, AL, Stefansson, K, Visser, JA, Ong, KK, Chang-Claude, J, Murabito, JM, Perry, JRB, Murray, A, Day, FR, Ruth, KS, Thompson, DJ, Lunetta, KL, Pervjakova, N, Chasman, DI, Stolk, L, Finucane, HK, Sulem, P, Bulik-Sullivan, B, Esko, T, Johnson, AD, Elks, CE, Franceschini, N, He, C, Altmaier, E, Brody, JA, Franke, LL, Huffman, JE, Keller, MF, McArdle, PF, Nutile, T, Porcu, E, Robino, A, Rose, LM, Schick, UM, Smith, JA, Teumer, A, Traglia, M, Vuckovic, D, Yao, J, Zhao, W, Albrecht, E, Amin, N, Corre, T, Hottenga, J-J, Mangino, M, Smith, AV, Tanaka, T, Abecasis, GR, Andrulis, IL, Anton-Culver, H, Antoniou, AC, Arndt, V, Arnold, AM, Barbieri, C, Beckmann, MW, Beeghly-Fadiel, A, Benitez, J, Bernstein, L, Bielinski, SJ, Blomqvist, C, Boerwinkle, E, Bogdanova, NV, Bojesen, SE, Bolla, MK, Borresen-Dale, A-L, Boutin, TS, Brauch, H, Brenner, H, Bruening, T, Burwinkel, B, Campbell, A, Campbell, H, Chanock, SJ, Chapman, JR, Chen, Y-DI, Chenevix-Trench, G, Couch, FJ, Coviello, AD, Cox, A, Czene, K, Darabi, H, De Vivo, I, Demerath, EW, Dennis, J, Devilee, P, Doerk, T, dos-Santos-Silva, I, Dunning, AM, Eicher, JD, Fasching, PA, Faul, JD, Figueroa, J, Flesch-Janys, D, Gandin, I, Garcia, ME, Garcia-Closas, M, Giles, GG, Girotto, GG, Goldberg, MS, Gonzalez-Neira, A, Goodarzi, MO, Grove, ML, Gudbjartsson, DF, Guenel, P, Guo, X, Haiman, CA, Hall, P, Hamann, U, Henderson, BE, Hocking, LJ, Hofman, A, Homuth, G, Hooning, MJ, Hopper, JL, Hu, FB, Huang, J, Humphreys, K, Hunter, DJ, Jakubowska, A, Jones, SE, Kabisch, M, Karasik, D, Knight, JA, Kolcic, I, Kooperberg, C, Kosma, V-M, Kriebel, J, Kristensen, V, Lambrechts, D, Langenberg, C, Li, J, Li, X, Lindstroem, S, Liu, Y, Luan, J, Lubinski, J, Maegi, R, Mannermaa, A, Manz, J, Margolin, S, Marten, J, Martin, NG, Masciullo, C, Meindl, A, Michailidou, K, Mihailov, E, Milani, L, Milne, RL, Mueller-Nurasyid, M, Nalls, M, Neale, BM, Nevanlinna, H, Neven, P, Newman, AB, Nordestgaard, BG, Olson, JE, Padmanabhan, S, Peterlongo, P, Peters, U, Petersmann, A, Peto, J, Pharoah, PDP, Pirastu, NN, Pirie, A, Pistis, G, Polasek, O, Porteous, D, Psaty, BM, Pylkas, K, Radice, P, Raffel, LJ, Rivadeneira, F, Rudan, I, Rudolph, A, Ruggiero, D, Sala, CF, Sanna, S, Sawyer, EJ, Schlessinger, D, Schmidt, MK, Schmidt, F, Schmutzler, RK, Schoemaker, MJ, Scott, RA, Seynaeve, CM, Simard, J, Sorice, R, Southey, MC, Stoeckl, D, Strauch, K, Swerdlow, A, Taylor, KD, Thorsteinsdottir, U, Toland, AE, Tomlinson, I, Truong, T, Tryggvadottir, L, Turner, ST, Vozzi, D, Wang, Q, Wellons, M, Willemsen, G, Wilson, JF, Winqvist, R, Wolffenbuttel, BBHR, Wright, AF, Yannoukakos, D, Zemunik, T, Zheng, W, Zygmunt, M, Bergmann, S, Boomsma, DI, Buring, JE, Ferrucci, L, Montgomery, GW, Gudnason, V, Spector, TD, van Duijn, CM, Alizadeh, BZ, Ciullo, M, Crisponi, L, Easton, DF, Gasparini, PP, Gieger, C, Harris, TB, Hayward, C, Kardia, SLR, Kraft, P, McKnight, B, Metspalu, A, Morrison, AC, Reiner, AP, Ridker, PM, Rotter, JI, Toniolo, D, Uitterlinden, AG, Ulivi, S, Voelzke, H, Wareham, NJ, Weir, DR, Yerges-Armstrong, LM, Price, AL, Stefansson, K, Visser, JA, Ong, KK, Chang-Claude, J, Murabito, JM, Perry, JRB, and Murray, A
Abstract: Menopause timing has a substantial impact on infertility and risk of disease, including breast cancer, but the underlying mechanisms are poorly understood. We report a dual strategy in ∼70,000 women to identify common and low-frequency protein-coding variation associated with age at natural menopause (ANM). We identified 44 regions with common variants, including two regions harboring additional rare missense alleles of large effect. We found enrichment of signals in or near genes involved in delayed puberty, highlighting the first molecular links between the onset and end of reproductive lifespan. Pathway analyses identified major association with DNA damage response (DDR) genes, including the first common coding variant in BRCA1 associated with any complex trait. Mendelian randomization analyses supported a causal effect of later ANM on breast cancer risk (∼6% increase in risk per year; P = 3 × 10(-14)), likely mediated by prolonged sex hormone exposure rather than DDR mechanisms.
Published: 2015

30. Rare neuroendocrine tumours: Results of the surveillance of rare cancers in Europe project

Author: Van Der Zwan, Jan Maarten, Trama, Annalisa, Otter, Renã©e, Larraã±aga, Nerea, Tavilla, Andrea, Marcos-gragera, Rafael, Dei Tos, Angelo Paolo, Baudin, Eric, Poston, Graeme, Links, Thera, Zielonke, N., Van Eycken, E., Sundseth, H., Hedelin, G., Faivre, JULIEN YVES STEPHAN, Woronoff, A. S., Buemi, A., Tretarre, B., Colonna, Marco, Bara, S., Ganry, O., Grosclaude, P., Holleczek, B., Geissler, J., Tryggvadottir, L., Deady, S., Bellã¹, F., Ferretti, Silvia, Serraino, D., Vercelli, M., Vitarelli, S., Cirilli, C., Fusco, M., Traina, Angelo, Michiara, M., Giacomin, A., Tumino, R., Mangone, L., Falcini, F., Senatore, G., Budroni, M., Piffer, S., Crocetti, E., LA ROSA, FEDERICA IRENE, Contiero, P., Fiore, A., Gatta, G., Casali, P. G., Gronchi, A., Ruzza, Marta, Sowe, S., De Angelis, R., Dei Tos, A. P., England, K., Ursin, G., Rachtan, J., Gozdz, S., Zwierko, M., Slowinski, J., Miranda, A., Safaei Diba, C., Primic-zakelj, M., Mateos, A., Martãnez, R., Torrella-ramos, A., Osca-gelis, G., Chirlaque, M. D., Moreno, C., Galceran, J., Martinez-garcia, C., Melchor, J. M., Sã¡nchez, M. J., Virizuela-echaburu, J. A., Cervantes, A., Adolfsson, J., Lambe, M., Mã¶ller, T. R., Ringborg, U., Jundt, G., Bouchardy, C., Ess, S. M., Bordoni, A., Konzelmann, I., Lutz, J. M., Visser, O., Siesling, S., Coebergh, J. W. W., Greenberg, D. C., Wilkinson, Robert John Duncan, Roche, M., Verne, J., Meechan, D., Lawrence, G., Coleman, M. P., Mackay, J., Gavin, A., Brewster, D. H., Kunkler, I., White, C., Damage and Repair in Cancer Development and Cancer Treatment (DARE), Guided Treatment in Optimal Selected Cancer Patients (GUTS), and Bouchardy Magnin, Christine
Subjects: Male, Pediatrics, Pathology, Cancer Research, MEDULLARY-THYROID CARCINOMA, Survival, Rare Diseases/epidemiology/mortality, Neuroendocrine Tumors/epidemiology/mortality, PROGNOSTIC-FACTORS, MERKEL CELL-CARCINOMA, Prevalence, EPIDEMIOLOGY, Cancer registry, Incidence, Prevalence, Survival, Neuroendocrine, Registries, Child, education.field_of_study, Relative survival, Merkel cell carcinoma, Incidence (epidemiology), Incidence, Middle Aged, Cancer registry, Europe, Neuroendocrine Tumors, Neuroendocrine, Oncology, Child, Preschool, Epidemiological Monitoring, Female, Adult, medicine.medical_specialty, Adolescent, Population, UNITED-STATES, DIAGNOSIS, Europe/epidemiology, NO, PERIOD ANALYSIS, Young Adult, Rare Diseases, Carcinoma, medicine, Rare neuroendocrine tumours, Humans, education, Survival analysis, ddc:613, Aged, business.industry, Infant, Newborn, Cancer, Infant, NATURAL-HISTORY, medicine.disease, Survival Analysis, STAGING-SYSTEMS, business
Abstract: Because of the low incidence, and limited opportunities for large patient volume experiences, there are very few relevant studies of neuroendocrine tumours (NETs).A large population-based database (including cancer patients diagnosed from 1978 to 2002 and registered in 76 population-based cancer registries [CRs]), provided by the project 'surveillance of rare cancers in Europe' (RARECARE) is used to describe the basic indicators of incidence, prevalence and survival of NETs, giving a unique overview on the burden of NETs in Europe. NETs at all cancer sites, excluding lung, were analysed in this study. In total over 20,000 incident cases of NETs were analysed and a data quality check upon specific NETs was performed. The overall incidence rate for NETs was 25/1,000,000 and was highest in patients aged 65 years and older with well differentiated endocrine carcinomas (non-functioning pancreatic and gastrointestinal) (40 per 1,000,000). We estimated that slightly more than 100,000 people were diagnosed with NETs and still alive in EU27 at the beginning of 2008. Overall, NETs had a 5 year relative survival of 50%; survival was low (12%) for poorly differentiated endocrine carcinoma, and relatively high (64%) for well differentiated carcinoma (not functioning of the pancreas and digestive organs). Within NETs, endocrine carcinoma of thyroid gland had the best 5-year relative survival (82%).Because of the complexity and number of the different disciplines involved with NETs (as they arise in many organs), a multidisciplinary approach delivered in highly qualified reference centres and an international network between those centres is recommended. (c) 2013 Elsevier Ltd. All rights reserved.
Published: 2013

31. Predictions of survival up to 10 years after diagnosis for european women with breast cancer in 2000-2002

Author: Allemani, Claudia, Minicozzi, Pamela, Berrino, Franco, Bastiaannet, Esther, Gavin, Anna, Galceran, Jaume, Ameijide, Alberto, Siesling, Sabine, Mangone, Lucia, Ardanaz, Eva, Hã©delin, Guy, Mateos, Antonio, Micheli, Andrea, Sant, Milena, Holub, J., Jurickova, L., Hakulinen, T., Tryggvadottir, L., Berrino, F., Allemani, C., Baili, P., Ciampichini, R., Ciccolallo, L., Gatta, G., Micheli, A., Margutti, C., Minicozzi, P., Sant, M., Sowe, S., Tereanu, C., Zigon, G., Ferretti, S., Federico, M., Rashid, I., Cirilli, C., De Lisi, V., Bozzani, F., Tumino, R., La Rosa, M. G., Spata, E., Sigona, A., Falcini, F., Foca, F., Giorgetti, S., Paci, E., Crocetti, E., Caldora, M., Capocaccia, R., Carrani, E., De Angelis, R., Francisci, S., Grande, E., Inghelmann, R., Lenz, H., Martina, L., Roazzi, P., Santaquilani, M., Simonetti, A., Tavilla, A., Verdecchia, A., Langmark, F., Bray, F., Johannesen, T. B., Rachtan, J., Gã³åºdåº, S., Siudowska, U., Mäå¼yk, R., Bielska-Lasota, M., Zwierko, M., Safaei Diba, C., PrimiÄ-Å½akelj, M., Klint, Ã. ., Talbã¤ck, M., Usel, M., Ess, S. M., Lutz, J. M., Pury, P., Visser, O., Greenberg, D. C., Coleman, M. P., Woods, L., Forman, D., Cooper, N., Roche, M., Lawrence, G., Black, R. J., Brewster, D. H., and Steward, J. A.
Subjects: Adult, medicine.medical_specialty, Cancer Research, Adolescent, Population, breast cancer, cancer survival, Socio-culturale, Breast Neoplasms, Disease, Breast cancer, Age Distribution, medicine, 80 and over, Humans, Registries, Stage (cooking), education, Survival rate, Survival analysis, EUROCARE, long-term survival, stage, Aged, Aged, 80 and over, Europe, Female, Middle Aged, Prognosis, Survival Analysis, Survival Rate, Oncology, Gynecology, education.field_of_study, Relative survival, business.industry, Cancer, medicine.disease, business, Demography
Abstract: Few studies have addressed longer-term survival for breast cancer in European women. We have made predictions of 10-year survival for European women diagnosed with breast cancer in 2000-2002. Data for 114,312 adult women (15-99 years) diagnosed with a first primary malignant cancer of the breast during 2000-2002 were collected in the EUROCARE-4 study from 24 population-based cancer registries in 14 European countries. We estimated relative survival at 1, 5, and 10 years after diagnosis for women who were alive at some point during 2000-2002, using the period approach. We also estimated 10-year survival conditional on survival to 1 and 5 years after diagnosis. Ten-year survival exceeded 70% in most regions, but was only 54% in Eastern Europe, with the highest value in Northern Europe (about 75%). Ten-year survival conditional on survival for 1 year was 2-6% higher than 10-year survival in all European regions, and geographic differences were smaller. Ten-year survival for women who survived at least 5 years was 88% overall, with the lowest figure in Eastern Europe (79%) and the highest in the UK (91%). Women aged 50-69 years had higher overall survival than older and younger women (79%). Six cancer registries had adequate information on stage at diagnosis; in these jurisdictions, 10-year survival was 89% for local, 62% for regional and 10% for metastatic disease. Data on stage are not collected routinely or consistently, yet these data are essential for meaningful comparison of population-based survival, which provides vital information for improving breast cancer control. What's new? Policy-makers and health-care planners need accurate data on long-term survival to improve cancer control. This Europe-wide study of 10-year survival identified low survival in Eastern Europe for women with breast cancer in 2000-2002, and wide variation by age at diagnosis. Data on stage at diagnosis are crucial for meaningful comparison of population-based survival, and fundamental for improving breast cancer control, but our analyses confirmed that stage data are not collected routinely or consistently
Published: 2013

32. Alcohol, tobacco and breast cancer--collaborative reanalysis of individual data from 53 epidemiological studies, including 58,515 women with breast cancer and 95,067 women without the disease

Author: Peterson, B., Ontiveros, P., Yu, M. C., Heath, C. W., Bergkvist, L., Baines, C. J., Malone, K., Magnusson, C., Lubin, F., Kungu, A., Kay, C., Pike, M., Siskind, V., Virutamasen, P., Hermon, C., Brêmond, A., Lacaya, L. B., Bain, C., Calle, E. E., Aristizabal, N., Gatei, D., Ngelangel, C. A., Bull, D., Fentiman, I. S., Leske, M. C., Hannaford, P., Pike, M. C., Viladiu, P., Wang, D. Y., Peto, J., White, E., Weinstein, A. L., Theetranont, C., Fraser, G., La Vecchia, C., Martinez, L., Evstifeeva, T., Holck, S., Jin, F., Shearman, R., Nasca, P. C., Wang, Q. S., Stanford, J. L., Chilvers, C. E.D., Tulinius, H., Bishop, T., Coldman, A. J., Salazar, S. B., Gallagher, R. P., Peto, R., Reeves, G., Hiatt, R. A., Kunde, D., Boyle, P., Kenya, P., Molina, R., Salas, O., Negri, E., Liff, J. M., Primic-Zakelj, M., Lee, N., Doll, R., Anderson, K., Schairer, C., Band, P., Goodill, A., Goldbohm, R. A., Katsouyanni, K., Hu, J., Mao, Y., Noonan, E. A., Hislop, T. G., Meirik, O., Cuadros, A., Clavel, F., Ursin, G., Boosiri, B., Lansac, J., Schofield, F., Renaud, R., Kosmelj, K., Kolonel, L. M., Hulka, B., Berry, G., Daling, J. R., Jones, L., Mati, J. G., Hulka, B. S., McCredie, M., Spears, G. F.S., Trichopoulou, A., Schuman, L., Farley, T. M.M., Ravnihar, B., Wei, H. Y., Key, T., Skegg, D. C.G., Lewis, C., Bernstein, L., Miller, A. B., Hanson, R. L., Ross, R. K., Martin, N., Rohan, T., Collins, R., Yuan, J. M., Colditz, G., Gao, Y. T., MacLennan, R., Segala, C., Weiss, N. S., Cooper Booth, J., Andrieu, N., Banks, E., Richardson, S., van Leeuwen, F. E., Newcomb, P., Gammon, M. D., Wongsrichanalai, C., Friedman, G. D., Szklo, M., Baens, J., van den Brandt, P. A., Alexander, F. E., Wilson, H. G., Spirtas, R., Tajima, K., Gerber, M., Franceschi, S., Stare, J., Ron, E., Jelihovsky, T., Mabuchi, K., Piana, L., Wall, C., Schoenberg, J. A., Koetsawang, S., Apelo, R. A., Marchbanks, P., Stewart, W., Van Leeuven, M., Jimakorn, P., Beeson, W. L., Pardthaisong, T., Tryggvadottir, L., Zheng, W., Adami, H. O., Coates, R. J., Palet, A., Wingo, P. A., Thomas, D. B., Thomas, D., Enger, S., Trichopoulos, D., Chutivongse, S., Bulbrook, R. D., Rosero-Bixby, L., Gajalakshmi, V., de la Cruz, J. R., Hopper, J. L., Muller, A., Zhiheng, C., Beral, V., Hamajima, N., Ewertz, M., Varma, A. O., Nomura, A. M.Y., Rookus, M. A., Lee, H. P., Ebeling, K., Cuzick, J., Yang, P., Cuevas, H. R., Peterson, H. B., Izquierdo, A., Brinton, L. A., Nishan, P., Clarke, E. A., Hayward, J. L., Crossley, B., Yun, T., Kalache, A., Moller, T. R., Hutchinson, W. B., Green, J., Marubini, E., Hoover, R., Wax, Y., Modan, B., Ory, H. W., Duffy, S. W., Ranstam, J., Olsson, H., Lund, E., Gairard, B., Ferraroni, M., Paganini-Hill, A., Appleby, P., Shu, X. O., Vessey, M., Haile, R. W., Dabancens, A., Folsom, A. R., Langston, N., Talamini, R., Skegg, D., Neil, A., Chang-Claude, J., Bachelot, A., McMichael, A. J., Javier, B., Persson, I., Paul, C., Mahoney, M. C., Hirose, K., Rachawat, D., De Sanjosé, S., Longnecker, M. P., Johnson, K. C., Morabia, A., Preston, D., Levi, F., Silpisornkosol, S., Stalsberg, H., McPherson, K., Yeates, D., Lê, M. G., Chantarakul, N., Clavel-Chapelon, F., Secretariat, Cancer Research UK Epidemiology Unit, Beral V, Hamajima N, Hirose K, Rohan T, Calle EE, Heath CW, Coates RJ, Liff JM, Talamini R, Chantarakul N, Koetsawang S, Rachawat D, Morabia A, Schuman L, Stewart W, Szklo M, Bain C, Schofield F, Siskind V, Band P, Coldman AJ, Gallagher RP, Hislop TG, Yang P, Kolonel LM, Nomura AMY, Hu J, Johnson KC, Mao Y, De Sanjose S, Lee N, Marchbanks P, Ory HW, Peterson HB, Wilson HG, Wingo PA, Ebeling K, Kunde D, Nishan P, Hopper JL, Colditz G, Gajalakshmi V, Martin N, Pardthaisong T, Solpisornkosol S, Theetranont C, Boosiri B, Chutivongse S, Jimakorn P, Virutamasen P, Wongsrichanalai C, Ewertz M, Adami HO, Bergkvist L, Magnusson C, Persson I, Chang-Claude J, Paul C, Skegg DCG, Spears GFS, Boyle P, Evstifeeva T, Daling JR, Hutchinson WB, Malone K, Noonan EA, Stanford JL, Thomas DB, Weiss NS, White E, Andrieu N, Bremond A, Clavel F, Gairard B, Lansac J, Piana L, Renaud R, Izquierdo A, Viladiu P, Cuevas HR, Ontiveros P, Palet A, Salazar SB, Arsitizabal N, Cuadros A, Tryggvadottir L, Tulinius H, Bachelot A, Le MG, Peto J, Franceschi S, Lubin F, Modan B, Ron E, Wax Y, Friedman GD, Hiatt RA, Levi F, Bishop T, Kosmelj K, Primic-Zakelj M, Ravnihar B, Stare J, Beeson WL, Fraser G, Bulbrook RD, Cuzick J, Duffy SW, Fentiman IS, Hayward JL, Wang DY, McMichael AJ, McPherson K, Hanson RL, Leske MC, Mahoney MC, Nasca PC, Varma AO, Weinstein AL, Moller TR, Olsson H, Ranstam J, Goldbohm RA, van den Brandt PA, Apelo RA, Baens J, de la Cruz JR, Javier B, Lacaya LB, Ngelangel CA, La Vecchia C, Negri E, Marubini E, Ferraroni M, Gerber M, Richardson S, Segala C, Gatei D, Kenya P, Kungu A, Mati JG, Brinton LA, Hoover R, Schairer C, Spirtas R, Lee HP, Rookus MA, van Leeuwen FE, Schoenberg JA, McCredie M, Gammon MD, Clarke EA, Jones L, Neil A, Vessey M, Yeates D, Appleby P, Banks E, Bull D, Crossley B, Goodill A, Green J, Hermon C, Key T, Langston N, Lewis C, Reeves G, Collins R, Doll R, Peto R, Mabuchi K, Preston D, Hannaford P, Kay C, Rosero-Bixby L, Gao YT, Jin F, Yuan JM, Wei HY, Yun T, Zhiheng C, Berry G, Cooper Booth J, Jelihovsky T, MacLennan R, Shearman R, Wang QS, Baines CJ, Miller AB, Wall C, Lund E, Stalsberg H, Shu XO, Zheng W, Katsouyanni K, Trichopoulou A, Trichopoulos D, Dabancens A, Martinez L, Molina R, Salas O, Alexander XE, Anderson K, Folsom AR, Hulka BS, Bernstein L, Enger S, Haile RW, Paganini-Hill A, Pike MC, Ross RK, Ursin G, Yu MC, Longnecker MP, Newcomb P, Kalache A, Farley TMM, Holck S, Meirik O, and Universitat de Barcelona
Subjects: Cancer Research, medicine.medical_specialty, Epidemiology, Dones, Alcohol, tobacco, smoking, Càncer de mama, chemistry.chemical_compound, Breast cancer, Hàbit de fumar, breast cancer, Tabac, Tobacco, [SDV.SPEE] Life Sciences [q-bio]/Public Health and Epidemiology, medicine, Women, Gynecology, collaborative reanalysis, Obstetrics, business.industry, alcohol, Confounding, Smoking, medicine.disease, Tobbacco habit, Oncology, chemistry, Drinking of alcoholic beverages, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Meta-analysis, Relative risk, Consum d'alcohol, Risk assessment, business, Developed country
Abstract: COLLABORATORS (in alphabetical order of institution, study name, or location) Aichi Cancer Research Institute, Nagoya, Japan: N Hamajima, K Hirose, K Tajima; Albert Einstein College of Medicine, NY, USA: T Rohan; American Cancer Society, GA, USA: EE Calle, CW Jr Heath; Atlanta, Emory University, GA, USA: RJ Coates, JM Liff; Aviano Cancer Center, Pordenone, Italy: R Talamini; Mahidol University, Bangkok, Thailand: N Chantarakul, S Koetsawang, D Rachawat; Breast Tumor Collaborative Study, Johns Hopkins University, MD, USA: A Morabia, L Schuman, W Stewart, M Szklo; University of Queensland, Brisbane, Australia: C Bain, F Schofield, V Siskind; British Columbia Cancer Agency, BC, Canada: P Band, AJ Coldman, RP Gallagher, TG Hislop, P Yang; Cancer Research Center, University of Hawaii, Hawaii, USA: LM Kolonel, AMY Nomura; Canadian Cancer Registries Epidemiology Research Group, Canada: J Hu, KC Johnson, Y Mao; Catalán Institut of Oncology, Barcelona, Spain: S De Sanjosé; Centers for Disease Control & Prevention, GA, USA: N Lee, P Marchbanks, HW Ory, HB Peterson, HG Wilson, PA Wingo; Central Institute of Cancer Research, Berlin, Germany: K Ebeling, D Kunde, P Nishan; Centre for Genetic Epidemiology, University of Melbourne, Melbourne, Australia: JL Hopper; Channing Laboratory, Brigham and Women's Hospital, Harvard Medical School, MA, USA: G Colditz for Nurses' Health Study Research Group; Chennai Cancer Institute, Madras, India: V Gajalakshmi; Chiang Mai University, Chiang Mai, Thailand: N Martin, T Pardthaisong, S Silpisornkosol, C Theetranont; Chulalongkorn University, Bangkok, Thailand: B Boosiri, S Chutivongse, P Jimakorn, P Virutamasen, C Wongsrichanalai; Danish Cancer Society, Aalborg, Denmark: M Ewertz; Department of Medical Epidemiology, Karolinska Institute, Stockholm, Sweden: HO Adami, L Bergkvist, C Magnusson, I Persson; Deutsches Krebsforschungszentrum, Heidelberg, Germany: J Chang-Claude; University of Otago, Dunedin, New Zealand: C Paul, DCG Skegg, GFS Spears; European Institute of Oncology, Milan, Italy: P Boyle, T Evstifeeva; Fred Hutchinson Cancer Research Center, WA, USA: JR Daling, WB Hutchinson, K Malone, EA Noonan, JL Stanford, DB Thomas, NS Weiss, E White; French Multicentre Breast Study, INSERM, Villejuif, France: N Andrieu, A Brêmond, F Clavel, B Gairard, J Lansac, L Piana, R Renaud; Girona Cancer Registry, Girona, Spain: A Izquierdo, P Viladiu; Hospital General de Mexico, Mexico City, Mexico: HR Cuevas, P Ontiveros, A Palet, SB Salazar; Hospital Universitario, Cali, Colombia: N Aristizabal, A Cuadros; Icelandic Cancer Society, Reykjavik, Iceland: L Tryggvadottir, H Tulinius; INSERM, Institut Gustave-Roussey, Villejuif, France: A Bachelot, MG Lê; Institute of Cancer Research, Sutton and London School of Hygiene and Tropical Medicine, UK: J Peto; International Agency for Research in Cancer, Lyon, France: S Franceschi; Israel Chaim Sheba Medical Centre, Tel-Hashomer, Israel: F Lubin, B Modan, E Ron, Y Wax; Kaiser Permanente, CA, USA: GD Friedman, RA Hiatt; Institut universitaire de medecine sociale et preventive, Lausanne, Switzerland: F Levi; Cancer Research UK Genetic Epidemiology Laboratory, Leeds, UK: T Bishop; Institute of Oncology, Ljubljana, Slovenia: K Kosmelj, M Primic-Zakelj, B Ravnihar, J Stare; Loma Linda University, CA, USA: WL Beeson, G Fraser; Cancer Research UK Department of Mathematics, Statistics & Epidemiology, London: RD Bulbrook, J Cuzick, SW Duffy, IS Fentiman, JL Hayward, DY Wang; London School of Hygiene & Tropical Medicine, London, UK: AJ McMichael, K McPherson; Long Island Breast Cancer Study, NY, USA: RL Hanson, MC Leske, MC Mahoney, PC Nasca, AO Varma, AL Weinstein; University Hospital, Lund, Sweden: TR Moller, H Olsson, J Ranstam; Maastricht University, Maastricht, The Netherlands: RA Goldbohm, PA van den Brandt; University of Philippines, Manila, Philippines: RA Apelo, J Baens, JR de la Cruz, B Javier, LB Lacaya, CA Ngelangel; Istituto ‘Mario Negri', Milan, Italy: C La Vecchia, E Negri; Istituto Nazionale Tumori, Divisione di Statistica Medica e Biometria, Milan, Italy: E Marubini; Istituto di Statistica Medica e Biometria, Milan, Italy: M Ferraroni; Montpellier Cancer Centre & INSERM, Montpellier, France: M Gerber, S Richardson, C Segala; Nairobi Centre for Research in Reproduction, Nairobi, Kenya: D Gatei, P Kenya, A Kungu, JG Mati; National Cancer Institute, MD, USA: LA Brinton, R Hoover, C Schairer; National Institute of Child Health & Human Development, MD, USA: R Spirtas; National University of Singapore, Singapore: HP Lee; The Netherlands Cancer Institute, Amsterdam, The Netherlands: MA Rookus, FE van Leeuwen for the Netherlands Oral Contraceptives and Breast Cancer Study Group; New Jersey State Department of Health, NJ, USA: JA Schoenberg; New South Wales Cancer Council, Sydney, Australia: M McCredie; Columbia University School of Public Health, NY, USA: MD Gammon; Ontario Cancer Treatment & Research Foundation, Ontario, Canada: EA Clarke; Department of Public Health & Primary Care, Oxford, UK: L Jones, A Neil, M Vessey, D Yeates; Cancer Research UK Epidemiology Unit, Oxford, UK (Secretariat): P Appleby, E Banks, V Beral, D Bull, B Crossley, A Goodill, J Green, C Hermon, T Key, N Langston, C Lewis, G Reeves; Cancer Research UK/MRC/BHF Clinical Trial Service Unit & Epidemiological Studies Unit, Oxford, UK: R Collins, R Doll, R Peto; Radiation Effects Research Foundation, Hiroshima, Japan: K Mabuchi, D Preston; Royal College of General Practitioners Oral Contraception Study, London, UK: P Hannaford, C Kay; University of Costa Rica, San Jose, Costa Rica: L Rosero-Bixby; Shanghai Cancer Institute, Shanghai, China: YT Gao, F Jin, J-M Yuan; Shanghai Institute of Planned Parenthood Research, Shanghai, China: HY Wei, T Yun, C Zhiheng; Department of Public Health, Sydney, Australia: G Berry, J Cooper Booth, T Jelihovsky, R MacLennan, R Shearman; Tianjin Cancer Institute, Tianjin, China: Q-S Wang; Department of Public Health Sciences, Toronto, Canada: CJ Baines, AB Miller, C Wall; Tromso University, Tromso, Norway: E Lund, H Stalsberg; Vanderbilt University, TN, USA: XO Shu, W Zheng; University of Athens Medical School, Athens, Greece: K Katsouyanni, A Trichopoulou, D Trichopoulos; University of Chile, Santiago, Chile: A Dabancens, L Martinez, R Molina, O Salas; University of Edinburgh, Edinburgh, UK: FE Alexander; University of Minnesota School of Public Health, MN, USA: K Anderson, AR Folsom on behalf of the Iowa Women's Health Study; University of North Carolina at Chapel Hill, School of Public Health, NC, USA: BS Hulka; University of Nottingham, Nottingham, UK: CED Chilvers; University of Southern California, LA, USA: L Bernstein, S Enger, RW Haile, A Paganini-Hill, MC Pike, RK Ross, G Ursin, MC Yu; University of Wisconsin Comprehensive Cancer Center, WI, USA: MP Longnecker, P Newcomb for the 4 State Study; Vasteras, Sweden: L Bergkvist; World Health Organisation, Geneva, Switzerland: A Kalache; World Health Organisation, UNDP/UNFPA/WHO/World Bank Special Programme of Research, Development and Research Training in Human Reproduction, Geneva, Switzerland: TMM Farley, S Holck, O Meirik. Analysis and writing committee: Beral V, Bull D, Doll R, Peto R, Reeves G Steering committee: Skegg D (Chairman), Colditz G, Hulka B, La Vecchia C, Magnusson C, Muller A, Peterson B, Pike M, Thomas D, Van Leeuven M.; International audience; Alcohol and tobacco consumption are closely correlated and published results on their association with breast cancer have not always allowed adequately for confounding between these exposures. Over 80% of the relevant information worldwide on alcohol and tobacco consumption and breast cancer were collated, checked and analysed centrally. Analyses included 58,515 women with invasive breast cancer and 95,067 controls from 53 studies. Relative risks of breast cancer were estimated, after stratifying by study, age, parity and, where appropriate, women's age when their first child was born and consumption of alcohol and tobacco. The average consumption of alcohol reported by controls from developed countries was 6.0 g per day, i.e. about half a unit/drink of alcohol per day, and was greater in ever-smokers than never-smokers, (8.4 g per day and 5.0 g per day, respectively). Compared with women who reported drinking no alcohol, the relative risk of breast cancer was 1.32 (1.19-1.45, P/=45 g per day alcohol. The relative risk of breast cancer increased by 7.1% (95% CI 5.5-8.7%; P
Published: 2002
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33. Menarche, menopause, and breast cancer risk: individual participant meta-analysis, including 118 964 women with breast cancer from 117 epidemiological studies

Author: Beral, V, Bull, D, Pirie, K, Reeves, G, Peto, R, Skegg, D, LaVecchia, C, Magnusson, C, Pike, MC, Thomas, D, Hamajima, N, Hirose, K, Tajima, K, Rohan, T, Friedenreich, CM, Calle, EE, Gapstur, SM, Patel, AV, Coates, RJ, Liff, JM, Talamini, R, Chantarakul, N, Koetsawang, S, Rachawat, D, Marcou, Y, Kakouri, E, Duffy, SW, Morabia, A, Schuman, L, Stewart, W, Szklo, M, Coogan, PF, Palmer, JR, Rosenberg, L, Band, P, Coldman, AJ, Gallagher, RP, Hislop, TG, Yang, P, Cummings, SR, Canfell, K, Sitas, F, Chao, P, Lissowska, J, Horn-Ross, PL, John, EM, Kolonel, LM, Nomura, AMY, Ghiasvand, R, Hu, J, Johnson, KC, Mao, Y, Callaghan, K, Crossley, B, Goodill, A, Green, J, Hermon, C, Key, T, Lindgard, I, Liu, B, Collins, R, Doll, R, Bishop, T, Fentiman, IS, De Sanjose, S, Gonzaler, CA, Lee, N, Marchbanks, P, Ory, HW, Peterson, HB, Wingo, P, Ebeling, K, Kunde, D, Nishan, P, Hopper, JL, Eliassen, H, Gajalakshmi, V, Martin, N, Pardthaisong, T, Silpisornkosol, S, Theetranont, C, Boosiri, B, Chutivongse, S, Jimakorn, P, Virutamasen, P, Wongsrichanalai, C, Neugut, A, Santella, R, Baines, CJ, Kreiger, N, Miller, AB, Wall, C, Tjonneland, A, Jorgensen, T, Stahlberg, C, Pedersen, AT, Flesch-Janys, D, Hakansson, N, Cauley, J, Heuch, I, Adami, HO, Persson, I, Weiderpass, E, Chang-Claude, J, Kaaks, R, McCredie, M, Paul, C, Skegg, DCG, Spears, GFS, Iwasaki, M, Tsugane, S, Anderson, G, Daling, JR, Hampton, J, Hutchinson, WB, Li, CI, Malone, K, Mandelson, M, Newcomb, P, Noonan, EA, Ray, RM, Stanford, JL, Tang, MTC, Thomas, DB, Weiss, NS, White, E, Izquierdo, A, Viladiu, P, Fourkala, EO, Jacobs, I, Menon, U, Ryan, A, Cuevas, HR, Ontiveros, P, Palet, A, Salazar, SB, Aristizabal, N, Cuadros, A, Tryggvadottir, L, Tulinius, H, Riboli, E, Andrieu, N, Bachelot, A, Le, MG, Bremond, A, Gairard, B, Lansac, J, Piana, L, Renaud, R, Clavel-Chapelon, F, Fournier, A, Touillaud, M, Mesrine, S, Chabbert-Buffet, N, Boutron-Ruault, MC, Wolk, A, Torres-Mejia, G, Franceschi, S, Romieu, I, Boyle, P, Lubin, F, Modan, B, Ron, E, Wax, Y, Friedman, GD, Hiatt, RA, Levi, F, Kosmelj, K, Primic-Zakelj, M, Ravnihar, B, Stare, J, Ekbom, A, Erlandsson, G, Beeson, WL, Fraser, G, Peto, J, Hanson, RL, Leske, MC, Mahoney, MC, Nasca, PC, Varma, AO, Weinstein, AL, Hartman, ML, Olsson, H, Goldbohm, RA, van den Brandt, PA, Palli, D, Teitelbaum, S, Apelo, RA, Baens, J, de la Cruz, JR, Javier, B, Lacaya, LB, Ngelangel, CA, La Vecchia, C, Negri, E, Marubini, E, Ferraroni, M, Gerber, M, Richardson, S, Segala, C, Gatei, D, Kenya, P, Kungu, A, Mati, JG, Brinton, LA, Freedman, M, Hoover, R, Schairer, C, Ziegler, R, Banks, E, Spirtas, R, Lee, HP, Rookus, MA, van Leeuwen, FE, Schoenberg, JA, Graff-Iversen, S, Selmer, R, Jones, L, McPherson, K, Neil, A, Vessey, M, Yeates, D, Mabuchi, K, Preston, D, Hannaford, P, Kay, C, McCann, SE, Rosero-Bixby, L, Gao, YT, Jin, F, Yuan, J-M, Wei, HY, Yun, T, Zhiheng, C, Berry, G, Booth, JC, Jelihovsky, T, MacLennan, R, Shearman, R, Hadjisavvas, A, Kyriacou, K, Loisidou, M, Zhou, X, Wang, Q-S, Kawai, M, Minami, Y, Tsuji, I, Lund, E, Kumle, M, Stalsberg, H, Shu, XO, Zheng, W, Monninkhof, EM, Onland-Moret, NC, Peeters, PHM, Katsouyanni, K, Trichopoulou, A, Trichopoulos, D, Tzonou, A, Baltzell, KA, Dabancens, A, Martinez, L, Molina, R, Salas, O, Alexander, FE, Anderson, K, Folsom, AR, Gammon, MD, Hulka, BS, Millikan, R, Chilvers, CED, Lumachi, F, Bain, C, Schofield, F, Siskind, V, Rebbeck, TR, Bernstein, LR, Enger, S, Haile, RW, Paganini-Hill, A, Ross, RK, Ursin, G, Wu, AH, Yu, MC, Ewertz, DM, Clarke, EA, Bergkvist, L, Anderson, GL, Gass, M, O'Sullivan, MJ, Kalache, A, Farley, TMM, Holck, S, Meirik, O, Fukao, A, Factors, CGH, Grp, SHNHSIIIR, Epidemiologie, RS: CAPHRI School for Public Health and Primary Care, RS: GROW - School for Oncology and Reproduction, RS: GROW - R1 - Prevention, RS: CAPHRI - R5 - Optimising Patient Care, and Collaborative Group on Hormonal Factors in Breast Cancer
Subjects: Aging, Breast cancer, Risk factors, Menopause, Menarche, cancer, malignancy, Ethnic origin, Disease, 0302 clinical medicine, Breast cancer, Risk Factors, Neoplasms, Receptors, Epidemiology, 80 and over, 030212 general & internal medicine, skin and connective tissue diseases, Aged, 80 and over, Patient, Obstetrics, Reproduction, Smoking, Age Factors, Middle Aged, Reproducibility, 3. Good health, Menopause, Receptors, Estrogen, Oncology, 030220 oncology & carcinogenesis, Menarche, Hormonal therapy, Female, epidemiology, Cancer Type - Breast Cancer, history, Adult, Risk, trends, medicine.medical_specialty, Design, Neoplasms, Hormone-Dependent, Requiring prolonged observation, Hormone Replacement Therapy, Oncology and Carcinogenesis, Breast Neoplasms, and over, Validity, methods, 03 medical and health sciences, Age, Clinical Research, Breast Cancer, medicine, Humans, cancer, Neoplasm Invasiveness, Women, Oncology & Carcinogenesis, Hormone-Dependent, breast, Aged, Gynecology, Collaborative Group on Hormonal Factors in Breast Cancer, therapy, business.industry, Contraception/Reproduction, Research, Estrogens, Etiology - Resources and Infrastructure, medicine.disease, Estrogen, Good Health and Well Being, cessation, Premenopause, Risk factors, Relative risk, Recall, business, malignancy, Meta-Analysis
Abstract: Background Menarche and menopause mark the onset and cessation, respectively, of ovarian activity associated with reproduction, and affect breast cancer risk. Our aim was to assess the strengths of their effects and determine whether they depend on characteristics of the tumours or the affected women.Methods Individual data from 117 epidemiological studies, including 118 964 women with invasive breast cancer and 306 091 without the disease, none of whom had used menopausal hormone therapy, were included in the analyses. We calculated adjusted relative risks (RRs) associated with menarche and menopause for breast cancer overall, and by tumour histology and by oestrogen receptor expression.Findings Breast cancer risk increased by a factor of 1.050 (95% CI 1.044-1.057; p < 0.0001) for every year younger at menarche, and independently by a smaller amount (1.029, 1.025-1.032; p < 0.0001), for every year older at menopause. Premenopausal women had a greater risk of breast cancer than postmenopausal women of an identical age (RR at age 45-54 years 1.43, 1.33-1.52, p < 0.001). All three of these associations were attenuated by increasing adiposity among postmenopausal women, but did not vary materially by women's year of birth, ethnic origin, childbearing history, smoking, alcohol consumption, or hormonal contraceptive use. All three associations were stronger for lobular than for ductal tumours (p < 0.006 for each comparison). The effect of menopause in women of an identical age and trends by age at menopause were stronger for oestrogen receptor-positive disease than for oestrogen receptor-negative disease (p < 0.01 for both comparisons).Interpretation The effects of menarche and menopause on breast cancer risk might not be acting merely by lengthening women's total number of reproductive years. Endogenous ovarian hormones are more relevant for oestrogen receptor-positive disease than for oestrogen receptor-negative disease and for lobular than for ductal tumours.Funding Cancer Research UK.
Published: 2012
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34. A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

Author: Gudmundsson, J, Sulem, P, Gudbjartsson, DF, Masson, G, Agnarsson, BA, Benediktsdottir, KR, Sigurdsson, A, Magnusson, OT, Gudjonsson, SA, Magnusdottir, DN, Johannsdottir, H, Helgadottir, HT, Stacey, SN, Jonasdottir, A, Olafsdottir, SB, Thorleifsson, G, Jonasson, JG, Tryggvadottir, L, Navarrete, S, Fuertes, F, Helfand, BT, Hu, Q, Csiki, IE, Mates, IN, Jinga, V, Aben, KKH, Van Oort, IM, Vermeulen, SH, Donovan, JL, Hamdy, FC, Ng, CF, Chiu, PKF, Lau, KM, Ng, MCY, Gulcher, JR, Kong, A, Catalona, WJ, Mayordomo, JI, Einarsson, GV, Barkardottir, RB, Jonsson, E, Mates, D, Neal, DE, Kiemeney, LA, Thorsteinsdottir, U, Rafnar, T, and Stefansson, K
Subjects: Male, Risk, Molecular Sequence Data, Iceland, Aetiology, screening and detection [ONCOL 5], Adenocarcinoma, Biology, Polymorphism, Single Nucleotide, Article, White People, Cell Line, Molecular epidemiology [NCEBP 1], 03 medical and health sciences, Prostate cancer, 0302 clinical medicine, Gene Frequency, Translational research [ONCOL 3], Genetics, medicine, Humans, Genetic Predisposition to Disease, Aged, 030304 developmental biology, Molecular epidemiology Aetiology, screening and detection [NCEBP 1], Aged, 80 and over, Homeodomain Proteins, Whole genome sequencing, Prostate cancer risk, 0303 health sciences, Base Sequence, Genome, Human, Prostatic Neoplasms, Sequence Analysis, DNA, Middle Aged, medicine.disease, 3. Good health, Risk variant, 030220 oncology & carcinogenesis, Mutation, Chromosomes, Human, Pair 8, Genome-Wide Association Study
Abstract: Contains fulltext : 108025.pdf (Publisher’s version ) (Closed access) In Western countries, prostate cancer is the most prevalent cancer of men and one of the leading causes of cancer-related death in men. Several genome-wide association studies have yielded numerous common variants conferring risk of prostate cancer. Here, we analyzed 32.5 million variants discovered by whole-genome sequencing 1,795 Icelanders. We identified a new low-frequency variant at 8q24 associated with prostate cancer in European populations, rs188140481[A] (odds ratio (OR) = 2.90; P(combined) = 6.2 x 10(-34)), with an average risk allele frequency in controls of 0.54%. This variant is only very weakly correlated (r(2)
Published: 2012

35. Menarche, menopause, and breast cancer risk: individual participant meta-analysis, including 118 964 women with breast cancer from 117 epidemiological studies

Author: Beral, V. Bull, D. Pirie, K. Reeves, G. Peto, R. and Skegg, D. LaVecchia, C. Magnusson, C. Pike, M. C. and Thomas, D. Hamajima, N. Hirose, K. Tajima, K. Rohan, T. and Friedenreich, C. M. Calle, E. E. Gapstur, S. M. Patel, A. V. Coates, R. J. Liff, J. M. Talamini, R. and Chantarakul, N. Koetsawang, S. Rachawat, D. Marcou, Y. and Kakouri, E. Duffy, S. W. Morabia, A. Schuman, L. and Stewart, W. Szklo, M. Coogan, P. F. Palmer, J. R. and Rosenberg, L. Band, P. Coldman, A. J. Gallagher, R. P. and Hislop, T. G. Yang, P. Cummings, S. R. Canfell, K. and Sitas, F. Chao, P. Lissowska, J. Horn-Ross, P. L. John, E. M. Kolonel, L. M. Nomura, A. M. Y. Ghiasvand, R. Hu, J. Johnson, K. C. Mao, Y. Callaghan, K. Crossley, B. and Goodill, A. Green, J. Hermon, C. Key, T. Lindgard, I. and Liu, B. Collins, R. Doll, R. Bishop, T. Fentiman, I. S. De Sanjose, S. Gonzaler, C. A. Lee, N. Marchbanks, P. and Ory, H. W. Peterson, H. B. Wingo, P. Ebeling, K. and Kunde, D. Nishan, P. Hopper, J. L. Eliassen, H. and Gajalakshmi, V. Martin, N. Pardthaisong, T. Silpisornkosol, S. Theetranont, C. Boosiri, B. Chutivongse, S. Jimakorn, P. Virutamasen, P. Wongsrichanalai, C. Neugut, A. and Santella, R. Baines, C. J. Kreiger, N. Miller, A. B. and Wall, C. Tjonneland, A. Jorgensen, T. Stahlberg, C. and Pedersen, A. Tonnes Flesch-Janys, D. Hakansson, N. Cauley, J. Heuch, I. Adami, H. O. Persson, I. Weiderpass, E. and Chang-Claude, J. Kaaks, R. McCredie, M. Paul, C. Spears, G. F. S. Iwasaki, M. Tsugane, S. Anderson, G. Daling, J. R. Hampton, J. Hutchinson, W. B. Li, C. I. Malone, K. and Mandelson, M. Newcomb, P. Noonan, E. A. Ray, R. M. and Stanford, J. L. Tang, M. T. C. Weiss, N. S. White, E. and Izquierdo, A. Viladiu, P. Fourkala, E. O. Jacobs, I. and Menon, U. Ryan, A. Cuevas, H. R. Ontiveros, P. Palet, A. and Salazar, S. B. Aristizabal, N. Cuadros, A. and Tryggvadottir, L. Tulinius, H. Riboli, E. Andrieu, N. and Bachelot, A. Le, M. G. Bremond, A. Gairard, B. Lansac, J. Piana, L. Renaud, R. Clavel-Chapelon, F. Fournier, A. and Touillaud, M. Mesrine, S. Chabbert-Buffet, N. and Boutron-Ruault, M. C. Wolk, A. Torres-Mejia, G. Franceschi, S. Romieu, I. Boyle, P. Lubin, F. Modan, B. Ron, E. and Wax, Y. Friedman, G. D. Hiatt, R. A. Levi, F. and Kosmelj, K. Primic-Zakelj, M. Ravnihar, B. Stare, J. and Ekbom, A. Erlandsson, G. Beeson, W. L. Fraser, G. Peto, J. Hanson, R. L. Leske, M. C. Mahoney, M. C. Nasca, P. C. Varma, A. O. Weinstein, A. L. Hartman, M. L. Olsson, H. Goldbohm, R. A. van den Brandt, P. A. Palli, D. and Teitelbaum, S. Apelo, R. A. Baens, J. de la Cruz, J. R. and Javier, B. Lacaya, L. B. Ngelangel, C. A. La Vecchia, C. and Negri, E. Marubini, E. Ferraroni, M. Gerber, M. and Richardson, S. Segala, C. Gatei, D. Kenya, P. Kungu, A. and Mati, J. G. Brinton, L. A. Freedman, M. Hoover, R. and Schairer, C. Ziegler, R. Banks, E. Spirtas, R. Lee, H. P. Rookus, M. A. van Leeuwen, F. E. Schoenberg, J. A. and Graff-Iversen, S. Selmer, R. Jones, L. McPherson, K. and Neil, A. Vessey, M. Yeates, D. Mabuchi, K. Preston, D. and Hannaford, P. Kay, C. McCann, S. E. Rosero-Bixby, L. and Gao, Y. T. Jin, F. Yuan, J-M Wei, H. Y. Yun, T. and Zhiheng, C. Berry, G. Booth, J. Cooper Jelihovsky, T. and MacLennan, R. Shearman, R. Hadjisavvas, A. Kyriacou, K. and Loisidou, M. Zhou, X. Wang, Q-S Kawai, M. Minami, Y. and Tsuji, I. Lund, E. Kumle, M. Stalsberg, H. Shu, X. O. and Zheng, W. Monninkhof, E. M. Onland-Moret, N. C. Peeters, P. H. M. Katsouyanni, K. Trichopoulou, A. Trichopoulos, D. and Tzonou, A. Baltzell, K. A. Dabancens, A. Martinez, L. and Molina, R. Salas, O. Alexander, F. E. Anderson, K. and Folsom, A. R. Gammon, M. D. Hulka, B. S. Millikan, R. and Chilvers, C. E. D. Lumachi, F. Bain, C. Schofield, F. and Siskind, V. Rebbeck, T. R. Bernstein, L. R. Enger, S. and Haile, R. W. Paganini-Hill, A. Ross, R. K. Ursin, G. Wu, A. H. Yu, M. C. Ewertz, Denmark M. Clarke, E. A. and Bergkvist, L. Gass, M. O'Sullivan, M. J. Kalache, A. and Farley, T. M. M. Holck, S. Meirik, O. Fukao, A. and Collaborative Grp Hormonal Factors Collaborative Grp Hormonal Factors S Hankinson Nurses Hlth Study I II
Subjects: skin and connective tissue diseases
Abstract: Background Menarche and menopause mark the onset and cessation, respectively, of ovarian activity associated with reproduction, and affect breast cancer risk. Our aim was to assess the strengths of their effects and determine whether they depend on characteristics of the tumours or the affected women. Methods Individual data from 117 epidemiological studies, including 118 964 women with invasive breast cancer and 306 091 without the disease, none of whom had used menopausal hormone therapy, were included in the analyses. We calculated adjusted relative risks (RRs) associated with menarche and menopause for breast cancer overall, and by tumour histology and by oestrogen receptor expression. Findings Breast cancer risk increased by a factor of 1.050 (95% CI 1.044-1.057; p < 0.0001) for every year younger at menarche, and independently by a smaller amount (1.029, 1.025-1.032; p < 0.0001), for every year older at menopause. Premenopausal women had a greater risk of breast cancer than postmenopausal women of an identical age (RR at age 45-54 years 1.43, 1.33-1.52, p < 0.001). All three of these associations were attenuated by increasing adiposity among postmenopausal women, but did not vary materially by women’s year of birth, ethnic origin, childbearing history, smoking, alcohol consumption, or hormonal contraceptive use. All three associations were stronger for lobular than for ductal tumours (p < 0.006 for each comparison). The effect of menopause in women of an identical age and trends by age at menopause were stronger for oestrogen receptor-positive disease than for oestrogen receptor-negative disease (p < 0.01 for both comparisons). Interpretation The effects of menarche and menopause on breast cancer risk might not be acting merely by lengthening women’s total number of reproductive years. Endogenous ovarian hormones are more relevant for oestrogen receptor-positive disease than for oestrogen receptor-negative disease and for lobular than for ductal tumours. Funding Cancer Research UK.
Published: 2012

36. Mutations in BRIP1 confer high risk of ovarian cancer

Author: Rafnar T, Gudbjartsson DF, Sulem P, Jonasdottir A, Sigurdsson A, Besenbacher S, Lundin P, Stacey SN, Gudmundsson J, Magnusson OT, le Roux L, Orlygsdottir G, Helgadottir H, Johannsdottir H, Gylfason A, Tryggvadottir L, Jonasson JG, De Juan A, Ortega E, Ramon-Cajal JM, Garcxeda-Prats MD, Mayordomo C, Panadero A, Rivera F, Aben KKH, van Altena AM, Massuger LFAG, Aavikko M, Kujala PM, Staff S, Aaltonen LA, Olafsdottir K, Bjornsson J, Kong A, Salvarsdottir A, Saemundsson H, Olafsson K, and Benediktsdott
Published: 2011

37. Survival of European patients with central nervous system tumors

Author: Sant, Milena, Minicozzi, Pamela, Lagorio, Susanna, BÃ¸rge Johannesen, Tom, Marcos-Gragera, Rafael, Francisci, Silvia, Oberaigner, W., Hackl, M., Van Eycken, E., Verstreken, Martine, Holub, J., Jurickova, L., Storm, H. H., Engholm, G., Hakulinen, T., Belot, A., Hã©delin, G., Velten, M., Guizard, A. V., Danzon, A., Buemi, A., Tretarre, B., Colonna, M., Bara, S., Ganry, O., Grosclaude, P., Ziegler, H., Tryggvadottir, L., Comber, H., Berrino, F., Allemani, C., Baili, P., Ciampichini, R., Ciccolallo, L., Gatta, G., Margutti, C., Micheli, A., Minicozzi, P., Sant, M., Sowe, S., Tereanu, C., Zigon, G., Tagliabue, G., Contiero, P., Bellã¹, F., Giacomin, A., Ferretti, S., Serraino, D., Dal Maso, L., De Dottori, M., De Paoli, A., Zanier, L., Vercelli, M., Orengo, M. A., Casella, C., Quaglia, A., Pannelli, F., Federico, M., Rashid, I., Cirilli, C., Fusco, M., De Lisi, V., Bozzani, F., Tumino, R., La Rosa, M. G., Spata, E., Sigona, A., Mangone, L., Falcini, F., Foca, F., Giorgetti, S., Senatore, G., Iannelli, A., Budroni, M., Zanetti, R., Patriarca, S., Rosso, S., Piffer, S., Franchini, S., Paci, E., Crocetti, E., La Rosa, F., Stracci, F., Cassetti, T., Zambon, P., Guzzinati, S., Caldora, M., Capocaccia, R., Carrani, E., De Angelis, R., Francisci, S., Grande, E., Inghelmann, R., Lenz, H., Martina, L., Roazzi, P., Santaquilani, M., Simonetti, A., Tavilla, A., Verdecchia, A., Dalmas, M., Langmark, F., Bray, F., Johannesen, T. B., Rachtan, J., Gã³åºdåº, S., Siudowska, U., Mezyk, R., Bielska-Lasota, M., Zwierko, M., Miranda, A., Safaei Diba, Chakameh, Primic-Å¹akelj, M., Izarzugaza, I., Marcos-Gragera, R., Vilardell, M. L., Izquierdo, A., Navarro, C., Chirlaque, M. D., Ardanaz, E., Moreno, C., Galceran, J., Klint, Ã. ., Talbã¤ck, M., Jundt, G., Usel, M., Ess, S. M., Bordoni, A., Luthi, J. C., Konzelmann, I., Lutz, J. M., Pury, P., Visser, O., Otter, R., Siesling, S., van der Zwan, J. M., Schaapveld, M., Coebergh, J. W. W., Janssen-Heijnen, M. L., van der Heijden, Louis, Greenberg, D. C., Coleman, M. P., Woods, Laura, Moran, T., Forman, D., Cooper, N., Roche, M., Verne, J., Mã¸ller, H., Meechan, D., Poole, J., Lawrence, G., Gavin, A., Black, R. J., Brewster, D. H., Steward, J. A., and Usel, Massimo
Subjects: Oncology, Ependymoma, Adult, Male, medicine.medical_specialty, Pathology, Cancer Research, Adolescent, Central Nervous System Neoplasms/mortality, Population, survival, NO, Benign tumor, Central Nervous System Neoplasms, Young Adult, Sex Factors, Internal medicine, morphology, medicine, 80 and over, Humans, Registries, Young adult, central nervous system tumors, Europe, Age Factors, Aged, Aged, 80 and over, Female, Middle Aged, Survival Rate, education, Survival rate, ddc:613, Medulloblastoma, education.field_of_study, Relative survival, business.industry, Cancer survival, Cancer, central nervous system tumors, survival, morphology, Europe, medicine.disease, business
Abstract: We present estimates of population-based 5-year relative survival for adult Europeans diagnosed with central nervous system tumors, by morphology (14 categories based on cell lineage and malignancy grade), sex, age at diagnosis and region (UK and Ireland, Northern, Central, Eastern and Southern Europe) for the most recent period with available data (2000-2002). Sources were 39 EUROCARE cancer registries with continuous data from 1996 to 2002. Survival time trends (1988 to 2002) were estimated from 24 cancer registries with continuous data from 1988. Overall 5-year relative survival was 85.0% for benign, 19.9% for malignant tumors. Benign tumor survival ranged from 90.6% (Northern Europe) to 77.4% (UK and Ireland); for malignant tumors the range was 25.1% (Northern Europe) to 15.6% (UK and Ireland). Survival decreased with age at diagnosis and was slightly better for women (malignant tumors only). For glial tumors, survival varied from 83.5% (ependymoma and choroid plexus) to 2.7% (glioblastoma); and for non-glioma tumors from 96.5% (neurinoma) to 44.9% (primitive neuroectoderm tumor/medulloblastoma). Survival differences between regions narrowed after adjustment for morphology and age, and were mainly attributable to differences in morphology mix; however UK and Ireland and Eastern Europe patients still had 40% and 30% higher excess risk of death, respectively, than Northern Europe patients (reference). Survival for benign tumors increased from 69.3% (1988-1990) to 77.1% (2000-2002); but survival for malignant tumors did not improve indicating no useful advances in treatment over the 14-year study period, notwithstanding major improvement in the diagnosis and treatment of other solid cancers.
Published: 2011

38. Familial risk of non-Hodgkin lymphoma by sex, relationship, age at diagnosis and histology: a joint study from five Nordic countries

Author: Fallah, M, primary, Kharazmi, E, additional, Pukkala, E, additional, Tretli, S, additional, Olsen, J H, additional, Tryggvadottir, L, additional, Sundquist, K, additional, and Hemminki, K, additional
Published: 2015
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39. Incidence of hematologic malignancies in Europe by morphologic subtype: Results of the HAEMACARE project

Author: Sant, M., Allemani, C., Tereanu, C., De Angelis, R., Capocaccia, R., Visser, O., Marcos Gragera, R., Maynadié, M., Simonetti, A., Lutz, J. M., Berrino, F., Hackl, M., Holub, J., Maynadie, M., Holleczek, B., Tryggvadottir, L., Comber, H., Bellù, F., Giacomin, A., Ferretti, S., Crocetti, E., Serraino, D., Vercelli, M., Federico, Massimo, Fusco, M., Michiara, M., Tumino, R., Mangone, L., Falcini, F., Iannelli, A., Budroni, M., Zanetti, R., Piffer, S., La Rosa, F., Zambon, P., Sowe, S., England, K., Langmark, F., Rachtan, J., Mezyk, R., Zwierko, M., Ondrusova, M., Primic Žakelj, M., Khan, S., Jundt, G., Usel, M., Ess, S. M., Bordoni, A., Otter, R., Coebergh, J. W., Siesling, S., Greenberg, D., Easey, N., Roche, M., Lawrence, G., Gavin, A., Brewster, D. H., and Steward, J.
Subjects: Male, medicine.medical_specialty, Pathology, Childhood leukemia, Hematologic malignant, Europe, morphologic subtype, international comparison, population-based cancer registry, Immunology, Population, UNITED-STATES, ALCOHOL, Biochemistry, NO, Myelodysplastic–myeloproliferative diseases, Internal medicine, Epidemiology, morphology, medicine, LYMPHOMA, Humans, EPIDEMIOLOGY, Registries, EXPOSURE, education, RISK, education.field_of_study, TOBACCO, haematologic malignancies, business.industry, Incidence (epidemiology), Incidence, leukemia, Myeloid leukemia, Cell Biology, Hematology, Hematologic malignancies, Plasma cell neoplasm, medicine.disease, Myelodysplastic-Myeloproliferative Diseases, Lymphoma, CANCER INCIDENCE, Hematologic Neoplasms, cancer incidence, tobacco, alcohol, epidemiology, leukemia, risk, exposure, CHILDHOOD LEUKEMIA, Female, business
Abstract: Changing definitions and classifications of hematologic malignancies (HMs) complicate incidence comparisons. HAEMACARE classified HMs into groupings consistent with the latest World Health Organization classification and useful for epidemiologic and public health purposes. We present crude, age-specific and age-standardized incidence rates for European HMs according to these groupings, estimated from 66 371 lymphoid malignancies (LMs) and 21 796 myeloid malignancies (MMs) registered in 2000-2002 by 44 European cancer registries, grouped into 5 regions. Age-standardized incidence rates were 24.5 (per 100 000) for LMs and 7.55 for MMs. The commonest LMs were plasma cell neoplasms (4.62), small B-cell lymphocytic lymphoma/chronic lymphatic leukemia (3.79), diffuse B-cell lymphoma (3.13), and Hodgkin lymphoma (2.41). The commonest MMs were acute myeloid leukemia (2.96), other myeloproliferative neoplasms (1.76), and myelodysplastic syndrome (1.24). Unknown morphology LMs were commonest in Northern Europe (7.53); unknown morphology MMs were commonest in Southern Europe (0.73). Overall incidence was lowest in Eastern Europe and lower in women than in men. For most LMs, incidence was highest in Southern Europe; for MMs incidence was highest in the United Kingdom and Ireland. Differences in diagnostic and registration criteria are an important cause of incidence variation; however, different distribution of HM risk factors also contributes. The quality of population-based HM data needs further improvement.
Published: 2010

40. Trends in cervical cancer survival in Europe, 1983-1994: a population-based study

Author: Bielska-Lasota, M., Inghelmann, R., van de Poll-Franse, L., Capocaccia, R., Storm, H. H., Aareleid, T., Jechova, M., Rousarova, M., Hakulinen, T., Hedelin, G., Tron, I., Le Gall, E., Launoy, G., Mace-Lesec'h, J., Faivre, J., Chaplain, G., Carli, P. -M., Danzon, A., Tretarre, B., Colonna, M., Lacour, B., Raverdy, N., Berger, C., Freycon, B., Grosclaude, P., Esteve, J., Kaatsch, P., Ziegler, H., Holzel, D., Schubert Fritschle, G., Tryggvadottir, L., Berrino, F., Allemani, C., Baili, P., Ciccolallo, L., Crosignani, P., Gatta, G., Micheli, A., Sant, M., Taussig, E., Sowe, S., Ferretti, S., Conti, E., Vercelli, M., Quaglia, A., Pannelli, F., Federico, M., Artioli, M. E., Ponz De Leon, M., Benatti, P., De Lisi, V., Servente, L., Zanetti, R., Patriarca, S., Magnani, C., Pastore, G., Gafa, L., Tumino, R., Falcini, F., Budroni, M., Paci, E., Crocetti, E., Zambon, P., Guzzinati, S., Carrani, E., De Angelis, R., Roazzi, P., Santaquilani, M., Tavilla, A., Valente, F., Verdecchia, A., Dalmas, M., Langmark, F., Andersen, A., Pinheiro, P., Rachtan, J., Wronkowski, Z., Zwierko, M., Plesko, I., Obsitnikova, A., Pompe-Kirn, V., Primic-Zakelj, M., Izarzugaza, I., Martinez-Garcia, C., Garau, I., Navarro, C., Chirlaque, M. D., Ardanaz, E., Moreno, C., Galceran, J., Torrella, A., Peris-Bonet, R., Barlow, L., Moller, T., Jundt, G., Lutz, J. M., Bouchardy, C., Coebergh, J. W. W., van der Does-van den Berg, A., Visser, O., Godward, S., Coleman, M. P., Williams, E. M. I., Forman, D., Quinn, M. J., Roche, M., Edwards, S., Stiller, C., Verne, J., Moller, H., Bell, J., Botha, H., Lawrence, G., Black, R., Steward, J. A., Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC ( CEF2P / CARCINO ), Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ) -Université Bourgogne Franche-Comté ( UBFC ) -Université de Franche-Comté ( UFC ), Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC (EA 3181) (CEF2P / CARCINO), Université de Franche-Comté (UFC), and Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)
Subjects: MESH: Registries, MESH : Mortality, MESH : Aged, Uterine Cervical Neoplasms, Disease, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, MESH: Aged, 80 and over, 0302 clinical medicine, MESH : Female, Registries, MESH: Aged, Cervical cancer, Aged, 80 and over, 0303 health sciences, education.field_of_study, MESH: Middle Aged, MESH : Prognosis, Relative survival, Absolute risk reduction, Obstetrics and Gynecology, Middle Aged, MESH : Adult, Prognosis, MESH : Survival Rate, 3. Good health, MESH: Uterine Cervical Neoplasms, Europe, Survival Rate, Oncology, 030220 oncology & carcinogenesis, Adenocarcinoma, Female, Adult, medicine.medical_specialty, MESH: Survival Rate, Adolescent, Population, MESH : Uterine Cervical Neoplasms, MESH : Europe, [SDV.CAN]Life Sciences [q-bio]/Cancer, MESH: Prognosis, Trends - cervical cancer - survival, 03 medical and health sciences, MESH : Adolescent, medicine, Humans, MESH : Middle Aged, Mortality, education, MESH : Aged, 80 and over, Survival rate, 030304 developmental biology, Aged, MESH: Adolescent, Gynecology, MESH: Humans, MESH: Mortality, business.industry, MESH : Humans, Cancer, MESH: Adult, Population-based study, Survival, Trends, medicine.disease, MESH: Europe, business, MESH: Female, MESH : Registries, Demography
Abstract: International audience; OBJECTIVE: To evaluate trends in survival from cervical cancer in Europe and in European countries participating in the EUROCARE study as a function of age, morphology and stage at diagnosis. METHODS: Relative survival and relative excess risk of death within 5 years of diagnosis, as a function of age, morphology and stage, among 73,022 women aged 15-99 years diagnosed during 1983-1994 and followed up to 1999 in each of 18 European countries participating in the EUROCARE study, using data from 34 population-based cancer registries. RESULTS: Overall five-year relative survival was 62%, rising by 2% during the period 1983-1994. The highest survival occurred in Northern and Western Europe and the lowest in Central Europe. Survival falls with age at diagnosis, but mainly for localised disease. Survival is higher for adenocarcinoma in younger women, but higher for squamous cell carcinoma in older women. The proportions of younger women, localised cancer and adenocarcinoma all increased. The main improvements in survival were for women under 65, and for metastatic disease. CONCLUSIONS: Survival in Europe has improved slowly but steadily, but the trend is not geographically uniform. Central European countries and the UK saw little or no improvement, and survival in those countries remains the lowest among participating countries in Europe. Further reduction of cervical cancer mortality in Europe may be expected from expansion of screening, and improvement in the treatment of older women, and of metastatic disease.
Published: 2007
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41. The EUROCARE-3 database: methodology of data collection, standardisation, quality control and statistical analysis

Author: Capocaccia, R., Gatta, G., Roazzi, P., Carrani, E., Santaquilani, M., De Angelis, R., Tavilla, A., Oberaigner, W., Jechova, M., Rousarova, M., Storm, H. H., Aareleid, T., Hakulinen, T., Hédelin, G., Tron, I., Le Gall, E., Launoy, G., Macé Lesech, J., Faivre, J. n. Chaplain G., Carli, P. M., Danzon, A., Tretarre, B., Colonna, M., Lacour, B., Raverdy, N., Berger, C., Freycon, F., Grosclaude, P., Estève, J., Kaatch, P., Ziegler, H., Hölzel, D., Fritschle, G. S., Tryggvadottir, L., Berrino, F., Allemani, C., Baili, P., Ciccolallo, L., Micheli, A., Sant, M., Taussig, E., Hartley, S., Valente, F., Verdecchia, A., Ferretti, S., Crosignani, P., Tagliabue, G., Conti, E., Vercelli, M., Pannelli, F., Vitarelli, S., Mosciatti, P., Federico, Massimo, Artioli, M. E., PONZ DE LEON, Maurizio, Benatti, Piero, De Lisi, V., Serventi, L., Zanetti, R., Patriarca, S., Magnani, C., Pastore, G., Gafà, L., Tumino, R., Falcini, F., Budroni, M., Paci, E., Crocetti, E., Zambon, P., Guzzinati, S., Dalmas, M., Langmark, F., Andersen, A., Rachtan, J., Bielska Lasota, M., Wronkowski, Z., Zwierko, M., Pinheiro, P. S., Pleško, I., Obsitníková, A., Pompe Kim, V., Izarzugaza, I., Martinez Garcia, C., Garau, I., Navarro, C., Chirlaque, M. D., Ardanaz, E., Moreno, C., Galceran, J., Torrella, A., Perisbonet, R., Barlow, L., Möller, T., Jundt, G., Lutz, J. M., Usel, M., Coebergh, J. W. W., Van Der Does Van Den, A., Visser, O., Godward, S., Coleman, M. P., Williams, E. M. I., Forman, D., Quinn, M. J., Roche, M., Edwards, S., Stiller, C., Verne, J., Møller, H., Bell, J., Botha, J. L., Lawrence, G., Black, R., Brewster, D., and Steward, J. A.
Subjects: Adult, Male, Quality Control, computer.software_genre, Stomach Neoplasms, Neoplasms, Autopsy Only, Cancer survival, Data quality, Population-based cancer registries, standardisation - quality control - statistical analysis, medicine, Humans, Statistical analysis, Registries, Medical diagnosis, Stage (cooking), Child, cancer survival, methodology - data collection, Data collection, Database, Relative survival, business.industry, Data Collection, Age Factors, Cancer, Hematology, medicine.disease, Survival Analysis, Europe, Survival Rate, Databases as Topic, Oncology, Data quality, Female, Colorectal Neoplasms, business, computer
Abstract: The EUROCARE database contains data on 6.5 million cancer patients diagnosed from 1978 to 1994 in populations covered by 67 cancer registries in 22 European countries. The quality-checked entries specify age, sex, diagnosis date, cancer site, morphology, microscopic confirmation and vital status, as well as containing broad indicators of stage. For EUROCARE-3, which refers to diagnoses from 1990 to 1994, 3389 cases with major data problems and 142,525 second or subsequent cancers were removed, leaving more than 2 million cases for analysis. From these data, observed and relative survival for each cancer site and country were calculated at 1, 3 and 5 years from diagnosis. Overall European survival for each cancer site and for all cancers combined were calculated combining country-specific survival figures. Overall, 1.1% of cases were lost to follow-up, 4.2% were known from death certificates only and 1.2% were known at autopsy only. The percentage of microscopically confirmed cases varied with cancer site and country, and was always higher in northern European countries. Comparison of quality indicators for the EUROCARE-3 database with earlier EUROCARE databases indicates that data quality and standardisation have improved.
Published: 2003

42. Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

Author: Styrkarsdottir, U, Thorleifsson, G, Sulem, P, Gudbjartsson, DF, Sigurdsson, A, Jonasdottir, A, Oddsson, A, Helgason, A, Magnusson, OT, Walters, GB, Frigge, ML, Helgadottir, HT, Johannsdottir, H, Bergsteinsdottir, K, Ogmundsdottir, MH, Center, JR, Nguyen, TV, Eisman, JA, Christiansen, C, Steingrimsson, E, Jonasson, JG, Tryggvadottir, L, Eyjolfsson, GI, Theodors, A, Jonsson, T, Ingvarsson, T, Olafsson, I, Rafnar, T, Kong, A, Sigurdsson, G, Masson, G, Thorsteinsdottir, U, Stefansson, K, Styrkarsdottir, U, Thorleifsson, G, Sulem, P, Gudbjartsson, DF, Sigurdsson, A, Jonasdottir, A, Oddsson, A, Helgason, A, Magnusson, OT, Walters, GB, Frigge, ML, Helgadottir, HT, Johannsdottir, H, Bergsteinsdottir, K, Ogmundsdottir, MH, Center, JR, Nguyen, TV, Eisman, JA, Christiansen, C, Steingrimsson, E, Jonasson, JG, Tryggvadottir, L, Eyjolfsson, GI, Theodors, A, Jonsson, T, Ingvarsson, T, Olafsson, I, Rafnar, T, Kong, A, Sigurdsson, G, Masson, G, Thorsteinsdottir, U, and Stefansson, K
Abstract: Low bone mineral density (BMD) is used as a parameter of osteoporosis. Genome-wide association studies of BMD have hitherto focused on BMD as a quantitative trait, yielding common variants of small effects that contribute to the population diversity in BMD. Here we use BMD as a dichotomous trait, searching for variants that may have a direct effect on the risk of pathologically low BMD rather than on the regulation of BMD in the healthy population. Through whole-genome sequencing of Icelandic individuals, we found a rare nonsense mutation within the leucine-rich-repeat-containing G-protein-coupled receptor 4 (LGR4) gene (c.376C>T) that is strongly associated with low BMD, and with osteoporotic fractures. This mutation leads to termination of LGR4 at position 126 and fully disrupts its function. The c.376C>T mutation is also associated with electrolyte imbalance, late onset of menarche and reduced testosterone levels, as well as an increased risk of squamous cell carcinoma of the skin and biliary tract cancer. Interestingly, the phenotype of carriers of the c.376C>T mutation overlaps that of Lgr4 mutant mice. © 2013 Macmillan Publishers Limited. All rights reserved.
Published: 2013

43. Alcohol, tobacco and breast cancer - collaborative reanalysis of individual data from 53 epidemiological studies, including 58515 women with breast cancer and 95067 women without the disease

Author: Beral, V Hamajima, N Hirose, K Rohan, T Calle, EE and Heath, CW Coates, RJ Liff, JM Talamini, R Chantarakul, N and Koetsawang, S Rachawat, D Morabia, A Schuman, L and Stewart, W Szklo, M Bain, C Schofield, F Siskind, V and Band, P Coldman, AJ Gallagher, RP Hislop, TG Yang, P and Kolonel, LM Nomura, AMY Hu, J Johnson, KC Mao, Y De Sanjose, S Lee, N Marchbanks, P Ory, HW Peterson, HB and Wilson, HG Wingo, PA Ebeling, K Kunde, D Nishan, P and Hopper, JL Colditz, G Gajalakshmi, V Martin, N and Pardthaisong, T Solpisornkosol, S Theetranont, C Boosiri, B and Chutivongse, S Jimakorn, P Virutamasen, P and Wongsrichanalai, C Ewertz, M Adami, HO Bergkvist, L and Magnusson, C Persson, I Chang-Claude, J Paul, C Skegg, DCG Spears, GFS Boyle, P Evstifeeva, T Daling, JR and Hutchinson, WB Malone, K Noonan, EA Stanford, JL Thomas, DB Weiss, NS White, E Andrieu, N Bremond, A Clavel, F Gairard, B Lansac, J Piana, L Renaud, R Izquierdo, A Viladiu, P Cuevas, HR Ontiveros, P Palet, A and Salazar, SB Arsitizabal, N Cuadros, A Tryggvadottir, L and Tulinius, H Bachelot, A Le, MG Peto, J Franceschi, S and Lubin, F Modan, B Ron, E Wax, Y Friedman, GD Hiatt, RA Levi, F Bishop, T Kosmelj, K Primic-Zakelj, M and Ravnihar, B Stare, J Beeson, WL Fraser, G Bulbrook, RD and Cuzick, J Duffy, SW Fentiman, IS Hayward, JL Wang, DY McMichael, AJ McPherson, K Hanson, RL Leske, MC and Mahoney, MC Nasca, PC Varma, AO Weinstein, AL Moller, TR and Olsson, H Ranstam, J Goldbohm, RA van den Brandt, PA and Apelo, RA Baens, J de la Cruz, JR Javier, B Lacaya, LB and Ngelangel, CA La Vecchia, C Negri, E Marubini, E and Ferraroni, M Gerber, M Richardson, S Segala, C Gatei, D and Kenya, P Kungu, A Mati, JG Brinton, LA Hoover, R and Schairer, C Spirtas, R Lee, HP Rookus, MA van Leeuwen, FE Schoenberg, JA McCredie, M Gammon, MD Clarke, EA and Jones, L Neil, A Vessey, M Yeates, D Appleby, P and Banks, E Bull, D Crossley, B Goodill, A Green, J and Hermon, C Key, T Langston, N Lewis, C Reeves, G and Collins, R Doll, R Peto, R Mabuchi, K Preston, D and Hannaford, P Kay, C Rosero-Bixby, L Gao, YT Jin, F and Yuan, JM Wei, HY Yun, T Zhiheng, C Berry, G Cooper Booth, J Jelihovsky, T MacLennan, R Shearman, R Wang, QS and Baines, CJ Miller, AB Wall, C Lund, E Stalsberg, H and Shu, XO Zheng, W Katsouyanni, K Trichopoulou, A and Trichopoulos, D Dabancens, A Martinez, L Molina, R and Salas, O Alexander, XE Anderson, K Folsom, AR Hulka, BS and Bernstein, L Enger, S Haile, RW Paganini-Hill, A and Pike, MC Ross, RK Ursin, G Yu, MC Longnecker, MP and Newcomb, P Bergkvist, L Kalache, A Farley, TMM Holck, S and Meirik, O Collaborative Group on Hormonal Factors in Breast Cancer
Abstract: Alcohol and tobacco consumption are closely correlated and published results on their association with breast cancer have not always allowed adequately for confounding between these exposures. Over 80% of the relevant information worldwide on alcohol and tobacco consumption and breast cancer were collated, checked and analysed centrally. Analyses included 58515 women with invasive breast cancer and 95067 controls from 53 studies. Relative risks of breast cancer were estimated, after stratifying by study, age, parity and, where appropriate, women’s age when their first child was born and consumption of alcohol and tobacco. The average consumption of alcohol reported by controls from developed countries was 6.0 g per day, i.e. about half a unit/drink of alcohol per day, and was greater in ever-smokers than never-smokers, (8.4 g per day and 5.0 g per day, respectively). Compared with women who reported drinking no alcohol, the relative risk of breast cancer was 1.32 (1.19 - 1.45, P < 0.00001) for an intake of 35 - 44 g per day alcohol, and 1.46 (1.33 - 1.61, P < 0.00001) for greater than or equal to 45 g per day alcohol. The relative risk of breast cancer increased by 7.1% (95% CI 5.5-8.7%; P
Published: 2002

44. Discovery of common variants associated with low TSH levels and thyroid cancer risk.

Author: Gudmundsson, J., Sulem, P., Gudbjartsson, D.F., Jonasson, J.G., Masson, G., He, H., Jonasdottir, A., Sigurdsson, A., Stacey, S.N., Johannsdottir, H., Helgadottir, H.T., Li, W., Nagy, R., Ringel, M.D., Kloos, R.T., Visser, M.C.H. de, Plantinga, T.S., Heijer, M. den, Aguillo, E., Panadero, A., Prats, E., Garcia-Castano, A., Juan, A. de, Rivera, F., Walters, G.B., Bjarnason, H., Tryggvadottir, L., Eyjolfsson, G.I., Bjornsdottir, U.S., Holm, H., Olafsson, I., Kristjansson, K., Kristvinsson, H., Magnusson, O.T., Thorleifsson, G., Gulcher, J.R., Kong, A., Kiemeney, L.A.L.M., Jonsson, T., Hjartarson, H., Mayordomo, J.I., Netea-Maier, R.T., Chapelle, A. dela, Hrafnkelsson, J., Thorsteinsdottir, U., Rafnar, T., Stefansson, K., Gudmundsson, J., Sulem, P., Gudbjartsson, D.F., Jonasson, J.G., Masson, G., He, H., Jonasdottir, A., Sigurdsson, A., Stacey, S.N., Johannsdottir, H., Helgadottir, H.T., Li, W., Nagy, R., Ringel, M.D., Kloos, R.T., Visser, M.C.H. de, Plantinga, T.S., Heijer, M. den, Aguillo, E., Panadero, A., Prats, E., Garcia-Castano, A., Juan, A. de, Rivera, F., Walters, G.B., Bjarnason, H., Tryggvadottir, L., Eyjolfsson, G.I., Bjornsdottir, U.S., Holm, H., Olafsson, I., Kristjansson, K., Kristvinsson, H., Magnusson, O.T., Thorleifsson, G., Gulcher, J.R., Kong, A., Kiemeney, L.A.L.M., Jonsson, T., Hjartarson, H., Mayordomo, J.I., Netea-Maier, R.T., Chapelle, A. dela, Hrafnkelsson, J., Thorsteinsdottir, U., Rafnar, T., and Stefansson, K.
Abstract: 1 maart 2012, Contains fulltext : 110933.pdf (publisher's version ) (Closed access), To search for sequence variants conferring risk of nonmedullary thyroid cancer, we focused our analysis on 22 SNPs with a P < 5 x 10(-8) in a genome-wide association study on levels of thyroid stimulating hormone (TSH) in 27,758 Icelanders. Of those, rs965513 has previously been shown to associate with thyroid cancer. The remaining 21 SNPs were genotyped in 561 Icelandic individuals with thyroid cancer (cases) and up to 40,013 controls. Variants suggestively associated with thyroid cancer (P < 0.05) were genotyped in an additional 595 non-Icelandic cases and 2,604 controls. After combining the results, three variants were shown to associate with thyroid cancer: rs966423 on 2q35 (OR = 1.34; P(combined) = 1.3 x 10(-9)), rs2439302 on 8p12 (OR = 1.36; P(combined) = 2.0 x 10(-9)) and rs116909374 on 14q13.3 (OR = 2.09; P(combined) = 4.6 x 10(-11)), a region previously reported to contain an uncorrelated variant conferring risk of thyroid cancer. A strong association (P = 9.1 x 10(-91)) was observed between rs2439302 on 8p12 and expression of NRG1, which encodes the signaling protein neuregulin 1, in blood.
Published: 2012

45. A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

Author: Gudmundsson, J., Sulem, P., Gudbjartsson, D.F., Masson, G., Agnarsson, B.A., Benediktsdottir, K.R., Sigurdsson, A., Magnusson, O.T., Gudjonsson, S.A., Magnusdottir, D.N., Johannsdottir, H., Helgadottir, H.T., Stacey, S.N., Jonasdottir, A., Olafsdottir, S.B., Thorleifsson, G., Jonasson, J.G., Tryggvadottir, L., Navarrete, S., Fuertes, F., Helfand, B.T., Hu, Q., Csiki, I.E., Mates, I.N., Jinga, V., Aben, K.K.H., Oort, I.M. van, Vermeulen, S., Donovan, J.L., Hamdy, F.C., Ng, C.F., Chiu, P.K., Lau, K.M., Ng, M.C., Gulcher, J.R., Kong, A., Catalona, W.J., Mayordomo, J.I., Einarsson, G.V., Barkardottir, R.B., Jonsson, E., Mates, D., Neal, D.E., Kiemeney, L.A.L.M., Thorsteinsdottir, U., Rafnar, T., Stefansson, K., Gudmundsson, J., Sulem, P., Gudbjartsson, D.F., Masson, G., Agnarsson, B.A., Benediktsdottir, K.R., Sigurdsson, A., Magnusson, O.T., Gudjonsson, S.A., Magnusdottir, D.N., Johannsdottir, H., Helgadottir, H.T., Stacey, S.N., Jonasdottir, A., Olafsdottir, S.B., Thorleifsson, G., Jonasson, J.G., Tryggvadottir, L., Navarrete, S., Fuertes, F., Helfand, B.T., Hu, Q., Csiki, I.E., Mates, I.N., Jinga, V., Aben, K.K.H., Oort, I.M. van, Vermeulen, S., Donovan, J.L., Hamdy, F.C., Ng, C.F., Chiu, P.K., Lau, K.M., Ng, M.C., Gulcher, J.R., Kong, A., Catalona, W.J., Mayordomo, J.I., Einarsson, G.V., Barkardottir, R.B., Jonsson, E., Mates, D., Neal, D.E., Kiemeney, L.A.L.M., Thorsteinsdottir, U., Rafnar, T., and Stefansson, K.
Abstract: Contains fulltext : 108025.pdf (publisher's version ) (Closed access), In Western countries, prostate cancer is the most prevalent cancer of men and one of the leading causes of cancer-related death in men. Several genome-wide association studies have yielded numerous common variants conferring risk of prostate cancer. Here, we analyzed 32.5 million variants discovered by whole-genome sequencing 1,795 Icelanders. We identified a new low-frequency variant at 8q24 associated with prostate cancer in European populations, rs188140481[A] (odds ratio (OR) = 2.90; P(combined) = 6.2 x 10(-34)), with an average risk allele frequency in controls of 0.54%. This variant is only very weakly correlated (r(2)
Published: 2012

46. Occupation and risk of primary fallopian tube carcinoma in Nordic countries

Author: Riska, A, Martinsen, J I, Kjaerheim, K, Lynge, Elsebeth, Sparen, P, Tryggvadottir, L, Weiderpass, E, Pukkala, E, Riska, A, Martinsen, J I, Kjaerheim, K, Lynge, Elsebeth, Sparen, P, Tryggvadottir, L, Weiderpass, E, and Pukkala, E
Abstract: The aetiology of primary Fallopian tube carcinoma (PFTC) is poorly understood. Occupational exposures may contribute to PFTC risk. We studied incidence of PFTC in occupational categories in the Nordic female population aged 30-64 years during the 1960, 1970, 1980/1981 and/or 1990 censuses in Denmark, Finland, Iceland, Norway and Sweden. Standardized incidence ratios (SIRs) for the years following inclusion in the study up to 2005 were calculated for 53 occupations; the expected numbers of cases were based on PFTC incidence in the national populations. Altogether 2,206 PFTC cases were detected during follow up via data linkages with the Nordic cancer registries. Significantly increased risks of PFTC were observed for smelting workers (SIR 3.99, 95% confidence interval 1.46-8.68, Obs = 6), artistic workers (2.64, 1.44-4.43, Obs = 14), hairdressers (2.18, 1.41-3.22, Obs = 25), packers (1.62, 1.11-2.29, Obs = 32), nurses (1.49, 1.14-1.92, Obs = 60), shop workers (1.25, 1.07-1.46, Obs = 159) and clerical workers (1.20, 1.07-1.35, Obs = 271) and these sustained over times and different Nordic countries. There was a nonsignificant increased risk for PFTC among welders, printers, painters and chemical process workers. The risk was significantly and consistently low for women working in farming (0.68, 0.47-0.95, Obs = 34) and among economically inactive women (0.88, 0.82-0.94, Obs = 833). The possible role of occupational exposures to the PFTC risks found in this study must be further evaluated in studies with a possibility to adjust for possible confounding factors, such as reproductive and life-style factors, which was not possible in our study.
Published: 2012

47. European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene

Author: Rafnar, T., Vermeulen, H.H.M., Sulem, P., Thorleifsson, G., Aben, K.K.H., Witjes, J.A., Grotenhuis, A.J., Verhaegh, G.W.C.T., Hulsbergen-van de Kaa, C.A., Besenbacher, S., Gudbjartsson, D., Stacey, S.N., Gudmundsson, J., Johannsdottir, H., Bjarnason, H., Zanon, C., Helgadottir, H., Jonasson, J.G., Tryggvadottir, L., Jonsson, E., Geirsson, G., Nikulasson, S., Petursdottir, V., Bishop, D.T., Chung-Sak, S., Choudhury, A., Elliott, F., Barrett, J.H., Knowles, M.A., Verdier, P. de, Ryk, C., Lindblom, A., Rudnai, P., Gurzau, E, Koppova, K., Vineis, P., Polidoro, S., Guarrera, S., Sacerdote, C., Panadero, A., Sanz-Velez, J.I., Sanchez, M., Valdivia, G., Garcia-Prats, M.D., Hengstler, J.G., Selinski, S., Gerullis, H., Ovsiannikov, D., Khezri, A., Aminsharifi, A., Malekzadeh, M., Berg, L.H. van den, Ophoff, R.A., Veldink, J.H., Zeegers, M.P., Kellen, E., Fostinelli, J., Andreoli, D., Arici, C., Porru, S., Buntinx, F., Ghaderi, A., Golka, K., Mayordomo, J.I., Matullo, G., Kumar, R., Steineck, G., Kiltie, A.E., Kong, A., Thorsteinsdottir, U., Stefansson, K., Kiemeney, L.A.L.M., Rafnar, T., Vermeulen, H.H.M., Sulem, P., Thorleifsson, G., Aben, K.K.H., Witjes, J.A., Grotenhuis, A.J., Verhaegh, G.W.C.T., Hulsbergen-van de Kaa, C.A., Besenbacher, S., Gudbjartsson, D., Stacey, S.N., Gudmundsson, J., Johannsdottir, H., Bjarnason, H., Zanon, C., Helgadottir, H., Jonasson, J.G., Tryggvadottir, L., Jonsson, E., Geirsson, G., Nikulasson, S., Petursdottir, V., Bishop, D.T., Chung-Sak, S., Choudhury, A., Elliott, F., Barrett, J.H., Knowles, M.A., Verdier, P. de, Ryk, C., Lindblom, A., Rudnai, P., Gurzau, E, Koppova, K., Vineis, P., Polidoro, S., Guarrera, S., Sacerdote, C., Panadero, A., Sanz-Velez, J.I., Sanchez, M., Valdivia, G., Garcia-Prats, M.D., Hengstler, J.G., Selinski, S., Gerullis, H., Ovsiannikov, D., Khezri, A., Aminsharifi, A., Malekzadeh, M., Berg, L.H. van den, Ophoff, R.A., Veldink, J.H., Zeegers, M.P., Kellen, E., Fostinelli, J., Andreoli, D., Arici, C., Porru, S., Buntinx, F., Ghaderi, A., Golka, K., Mayordomo, J.I., Matullo, G., Kumar, R., Steineck, G., Kiltie, A.E., Kong, A., Thorsteinsdottir, U., Stefansson, K., and Kiemeney, L.A.L.M.
Abstract: Contains fulltext : 97884.pdf (publisher's version ) (Closed access), Three genome-wide association studies in Europe and the USA have reported eight urinary bladder cancer (UBC) susceptibility loci. Using extended case and control series and 1000 Genomes imputations of 5 340 737 single-nucleotide polymorphisms (SNPs), we searched for additional loci in the European GWAS. The discovery sample set consisted of 1631 cases and 3822 controls from the Netherlands and 603 cases and 37 781 controls from Iceland. For follow-up, we used 3790 cases and 7507 controls from 13 sample sets of European and Iranian ancestry. Based on the discovery analysis, we followed up signals in the urea transporter (UT) gene SLC14A. The strongest signal at this locus was represented by a SNP in intron 3, rs17674580, that reached genome-wide significance in the overall analysis of the discovery and follow-up groups: odds ratio = 1.17, P = 7.6 x 10(-11). SLC14A1 codes for UTs that define the Kidd blood group and are crucial for the maintenance of a constant urea concentration gradient in the renal medulla and, through this, the kidney's ability to concentrate urine. It is speculated that rs17674580, or other sequence variants in LD with it, indirectly modifies UBC risk by affecting urine production. If confirmed, this would support the 'urogenous contact hypothesis' that urine production and voiding frequency modify the risk of UBC.
Published: 2011

48. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

Author: Stacey, S.N., Sulem, P., Jonasdottir, A., Masson, G., Gudmundsson, J., Gudbjartsson, D.F., Magnusson, O.T., Gudjonsson, S.A., Sigurgeirsson, B., Thorisdottir, K., Ragnarsson, R., Benediktsdottir, K.R., Nexo, B.A., Tjonneland, A., Overvad, K., Rudnai, P., Gurzau, E, Koppova, K., Hemminki, K., Corredera, C., Fuentelsaz, V., Grasa, P., Navarrete, S., Fuertes, F., Garcia-Prats, M.D., Sanambrosio, E., Panadero, A., Juan, A. de, Garcia, A., Rivera, F., Planelles, D., Soriano, V., Requena, C., Aben, K.K.H., Rossum, M.M. van, Cremers, R.G.H.M., Oort, I.M. van, Spronsen, D.J. van, Schalken, J.A., Peters, W.H.M., Helfand, B.T., Donovan, J.L., Hamdy, F.C., Badescu, D., Codreanu, O., Jinga, M., Csiki, I.E., Constantinescu, V., Badea, P., Mates, I.N., Dinu, D.E., Constantin, A., Mates, D., Kristjansdottir, S., Agnarsson, B.A., Jonsson, E., Barkardottir, R.B., Einarsson, G.V., Sigurdsson, F., Moller, P.H., Stefansson, T., Valdimarsson, T., Johannsson, O.T., Sigurdsson, H., Jonsson, T., Jonasson, J.G., Tryggvadottir, L., Rice, T., Hansen, H.M., Xiao, Y., Lachance, D.H., Kosel, M.L., Decker, P.A., Thorleifsson, G., Johannsdottir, H., Helgadottir, H.T., Sigurdsson, A., Steinthorsdottir, V., Lindblom, A., Sandler, R.S., Keku, T.O., Banasik, K., Jorgensen, T., Witte, D.R., Hansen, T., Pedersen, O., Jinga, V., Neal, D.E., Catalona, W.J., Wrensch, M., Wiencke, J., Jenkins, R.B., Nagore, E., Vogel, U., Kiemeney, L.A.L.M., Kumar, R., Mayordomo, J.I., Olafsson, J.H., et al., Stacey, S.N., Sulem, P., Jonasdottir, A., Masson, G., Gudmundsson, J., Gudbjartsson, D.F., Magnusson, O.T., Gudjonsson, S.A., Sigurgeirsson, B., Thorisdottir, K., Ragnarsson, R., Benediktsdottir, K.R., Nexo, B.A., Tjonneland, A., Overvad, K., Rudnai, P., Gurzau, E, Koppova, K., Hemminki, K., Corredera, C., Fuentelsaz, V., Grasa, P., Navarrete, S., Fuertes, F., Garcia-Prats, M.D., Sanambrosio, E., Panadero, A., Juan, A. de, Garcia, A., Rivera, F., Planelles, D., Soriano, V., Requena, C., Aben, K.K.H., Rossum, M.M. van, Cremers, R.G.H.M., Oort, I.M. van, Spronsen, D.J. van, Schalken, J.A., Peters, W.H.M., Helfand, B.T., Donovan, J.L., Hamdy, F.C., Badescu, D., Codreanu, O., Jinga, M., Csiki, I.E., Constantinescu, V., Badea, P., Mates, I.N., Dinu, D.E., Constantin, A., Mates, D., Kristjansdottir, S., Agnarsson, B.A., Jonsson, E., Barkardottir, R.B., Einarsson, G.V., Sigurdsson, F., Moller, P.H., Stefansson, T., Valdimarsson, T., Johannsson, O.T., Sigurdsson, H., Jonsson, T., Jonasson, J.G., Tryggvadottir, L., Rice, T., Hansen, H.M., Xiao, Y., Lachance, D.H., Kosel, M.L., Decker, P.A., Thorleifsson, G., Johannsdottir, H., Helgadottir, H.T., Sigurdsson, A., Steinthorsdottir, V., Lindblom, A., Sandler, R.S., Keku, T.O., Banasik, K., Jorgensen, T., Witte, D.R., Hansen, T., Pedersen, O., Jinga, V., Neal, D.E., Catalona, W.J., Wrensch, M., Wiencke, J., Jenkins, R.B., Nagore, E., Vogel, U., Kiemeney, L.A.L.M., Kumar, R., Mayordomo, J.I., Olafsson, J.H., and et al.
Abstract: Contains fulltext : 97569.pdf (publisher's version ) (Closed access), To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 x 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 x 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 x 10(-6)), glioma (OR = 2.35, P = 1.0 x 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 x 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).
Published: 2011

49. Mutations in BRIP1 confer high risk of ovarian cancer

Author: Rafnar, T., Gudbjartsson, D.F., Sulem, P., Jonasdottir, A., Sigurdsson, A., Besenbacher, S., Lundin, P., Stacey, S.N., Gudmundsson, J., Magnusson, O.T., Roux, L. le, Orlygsdottir, G., Helgadottir, H.T., Johannsdottir, H., Gylfason, A, Tryggvadottir, L., Jonasson, J.G., Juan, A. de, Ortega, E., Ramon-Cajal, J.M., Garcia-Prats, M.D., Mayordomo, C., Panadero, A., Rivera, F., Aben, K.K.H., Altena, A.M. van, Massuger, L.F.A.G., Aavikko, M., Kujala, P.M., Staff, S., Aaltonen, L.A., Olafsdottir, K., Bjornsson, J., Kong, A., Salvarsdottir, A., Saemundsson, H., Olafsson, K., Benediktsdottir, K.R., Gulcher, J., Masson, G., Kiemeney, L.A.L.M., Mayordomo, J.I., Thorsteinsdottir, U., Stefansson, K., Rafnar, T., Gudbjartsson, D.F., Sulem, P., Jonasdottir, A., Sigurdsson, A., Besenbacher, S., Lundin, P., Stacey, S.N., Gudmundsson, J., Magnusson, O.T., Roux, L. le, Orlygsdottir, G., Helgadottir, H.T., Johannsdottir, H., Gylfason, A, Tryggvadottir, L., Jonasson, J.G., Juan, A. de, Ortega, E., Ramon-Cajal, J.M., Garcia-Prats, M.D., Mayordomo, C., Panadero, A., Rivera, F., Aben, K.K.H., Altena, A.M. van, Massuger, L.F.A.G., Aavikko, M., Kujala, P.M., Staff, S., Aaltonen, L.A., Olafsdottir, K., Bjornsson, J., Kong, A., Salvarsdottir, A., Saemundsson, H., Olafsson, K., Benediktsdottir, K.R., Gulcher, J., Masson, G., Kiemeney, L.A.L.M., Mayordomo, J.I., Thorsteinsdottir, U., and Stefansson, K.
Abstract: Contains fulltext : 98125.pdf (publisher's version ) (Closed access), Ovarian cancer causes more deaths than any other gynecologic malignancy in developed countries. Sixteen million sequence variants, identified through whole-genome sequencing of 457 Icelanders, were imputed to 41,675 Icelanders genotyped using SNP chips, as well as to their relatives. Sequence variants were tested for association with ovarian cancer (N of affected individuals = 656). We discovered a rare (0.41% allelic frequency) frameshift mutation, c.2040_2041insTT, in the BRIP1 (FANCJ) gene that confers an increase in ovarian cancer risk (odds ratio (OR) = 8.13, P = 2.8 x 10(-14)). The mutation was also associated with increased risk of cancer in general and reduced lifespan by 3.6 years. In a Spanish population, another frameshift mutation in BRIP1, c.1702_1703del, was seen in 2 out of 144 subjects with ovarian cancer and 1 out of 1,780 control subjects (P = 0.016). This allele was also associated with breast cancer (seen in 6/927 cases; P = 0.0079). Ovarian tumors from heterozygous carriers of the Icelandic mutation show loss of the wild-type allele, indicating that BRIP1 behaves like a classical tumor suppressor gene in ovarian cancer.
Published: 2011

50. Cancer incidence among priests - 45 years of follow-up in four Nordic countries

Author: Stang, A, Martinsen, JI, Kjaerheim, K, Weiderpass, E, Sparen, P, Tryggvadottir, L, Pukkala, E, Stang, A, Martinsen, JI, Kjaerheim, K, Weiderpass, E, Sparen, P, Tryggvadottir, L, and Pukkala, E
Published: 2011

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