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1. Prediction of breast cancer risk based on profiling with common genetic variants.

Author

Mavaddat, Nasim, Pharoah, Paul, Michailidou, Kyriaki, Tyrer, Jonathan, Brook, Mark, Bolla, Manjeet, Wang, Qin, Dennis, Joe, Dunning, Alison, Shah, Mitul, Luben, Robert, Brown, Judith, Bojesen, Stig, Nordestgaard, Børge, Nielsen, Sune, Flyger, Henrik, Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Peto, Julian, Dos-Santos-Silva, Isabel, Dudbridge, Frank, Johnson, Nichola, Schmidt, Marjanka, Broeks, Annegien, Verhoef, Senno, Rutgers, Emiel, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk, Figueroa, Jonine, Chanock, Stephen, Brinton, Louise, Lissowska, Jolanta, Couch, Fergus, Olson, Janet, Vachon, Celine, Pankratz, Vernon, Lambrechts, Diether, Wildiers, Hans, Van Ongeval, Chantal, van Limbergen, Erik, Kristensen, Vessela, Grenaker Alnæs, Grethe, Nord, Silje, Borresen-Dale, Anne-Lise, Nevanlinna, Heli, Muranen, Taru, Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Fasching, Peter, Haeberle, Lothar, Ekici, Arif, Beckmann, Matthias, Burwinkel, Barbara, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Trentham-Dietz, Amy, Newcomb, Polly, Titus, Linda, Egan, Kathleen, Hunter, David, Lindstrom, Sara, Tamimi, Rulla, Kraft, Peter, Rahman, Nazneen, Turnbull, Clare, Renwick, Anthony, Seal, Sheila, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Benitez, Javier, Pilar Zamora, M, Arias Perez, Jose, Menéndez, Primitiva, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Bogdanova, Natalia, Antonenkova, Natalia, Dörk, Thilo, Anton-Culver, Hoda, Neuhausen, Susan, Ziogas, Argyrios, Bernstein, Leslie, Devilee, Peter, Tollenaar, Robert, Seynaeve, Caroline, van Asperen, Christi, Cox, Angela, Cross, Simon, and Reed, Malcolm

Subjects
Adult, Aged, Biomarkers, Tumor, Breast Neoplasms, Europe, Female, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Genetic Predisposition to Disease, Genotype, Humans, Middle Aged, Odds Ratio, Polymorphism, Single Nucleotide, Predictive Value of Tests, Receptors, Estrogen, Risk Assessment, Risk Factors
Abstract

BACKGROUND: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. METHODS: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and constructed a 77-SNP polygenic risk score (PRS) for breast cancer overall and by estrogen receptor (ER) status. Absolute risks of breast cancer by PRS were derived from relative risk estimates and UK incidence and mortality rates. RESULTS: There was no strong evidence for departure from a multiplicative model for any SNP pair. Women in the highest 1% of the PRS had a three-fold increased risk of developing breast cancer compared with women in the middle quintile (odds ratio [OR] = 3.36, 95% confidence interval [CI] = 2.95 to 3.83). The ORs for ER-positive and ER-negative disease were 3.73 (95% CI = 3.24 to 4.30) and 2.80 (95% CI = 2.26 to 3.46), respectively. Lifetime risk of breast cancer for women in the lowest and highest quintiles of the PRS were 5.2% and 16.6% for a woman without family history, and 8.6% and 24.4% for a woman with a first-degree family history of breast cancer. CONCLUSIONS: The PRS stratifies breast cancer risk in women both with and without a family history of breast cancer. The observed level of risk discrimination could inform targeted screening and prevention strategies. Further discrimination may be achievable through combining the PRS with lifestyle/environmental factors, although these were not considered in this report.

Published
2015

2. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Author

Ruark, Elise, Snape, Katie, Humburg, Peter, Loveday, Chey, Bajrami, Ilirjana, Brough, Rachel, Rodrigues, Daniel Nava, Renwick, Anthony, Seal, Sheila, Ramsay, Emma, Duarte, Silvana Del Vecchio, Rivas, Manuel A, Warren-Perry, Margaret, Zachariou, Anna, Campion-Flora, Adriana, Hanks, Sandra, Murray, Anne, Pour, Naser Ansari, Douglas, Jenny, Gregory, Lorna, Rimmer, Andrew, Walker, Neil M, Yang, Tsun-Po, Adlard, Julian W, Barwell, Julian, Berg, Jonathan, Brady, Angela F, Brewer, Carole, Brice, Glen, Chapman, Cyril, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Douglas, Fiona, Eccles, Diana, Evans, D Gareth, Greenhalgh, Lynn, Henderson, Alex, Izatt, Louise, Kumar, Ajith, Lalloo, Fiona, Miedzybrodzka, Zosia, Morrison, Patrick J, Paterson, Joan, Porteous, Mary, Rogers, Mark T, Shanley, Susan, Walker, Lisa, Gore, Martin, Houlston, Richard, Brown, Matthew A, Caufield, Mark J, Deloukas, Panagiotis, McCarthy, Mark I, Todd, John A, Turnbull, Clare, Reis-Filho, Jorge S, Ashworth, Alan, Antoniou, Antonis C, Lord, Christopher J, Donnelly, Peter, and Rahman, Nazneen

Subjects
Breast Cancer, Ovarian Cancer, Cancer, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Alleles, Breast Neoplasms, Cluster Analysis, Exons, Female, Genetic Predisposition to Disease, Humans, Isoenzymes, Lymphocytes, Mosaicism, Mutation, Ovarian Neoplasms, Phosphoprotein Phosphatases, Protein Phosphatase 2C, Sequence Analysis, DNA, Tumor Suppressor Protein p53, Breast and Ovarian Cancer Susceptibility Collaboration, Wellcome Trust Case Control Consortium, General Science & Technology
Abstract

Improved sequencing technologies offer unprecedented opportunities for investigating the role of rare genetic variation in common disease. However, there are considerable challenges with respect to study design, data analysis and replication. Using pooled next-generation sequencing of 507 genes implicated in the repair of DNA in 1,150 samples, an analytical strategy focused on protein-truncating variants (PTVs) and a large-scale sequencing case-control replication experiment in 13,642 individuals, here we show that rare PTVs in the p53-inducible protein phosphatase PPM1D are associated with predisposition to breast cancer and ovarian cancer. PPM1D PTV mutations were present in 25 out of 7,781 cases versus 1 out of 5,861 controls (P = 1.12 × 10(-5)), including 18 mutations in 6,912 individuals with breast cancer (P = 2.42 × 10(-4)) and 12 mutations in 1,121 individuals with ovarian cancer (P = 3.10 × 10(-9)). Notably, all of the identified PPM1D PTVs were mosaic in lymphocyte DNA and clustered within a 370-base-pair region in the final exon of the gene, carboxy-terminal to the phosphatase catalytic domain. Functional studies demonstrate that the mutations result in enhanced suppression of p53 in response to ionizing radiation exposure, suggesting that the mutant alleles encode hyperactive PPM1D isoforms. Thus, although the mutations cause premature protein truncation, they do not result in the simple loss-of-function effect typically associated with this class of variant, but instead probably have a gain-of-function effect. Our results have implications for the detection and management of breast and ovarian cancer risk. More generally, these data provide new insights into the role of rare and of mosaic genetic variants in common conditions, and the use of sequencing in their identification.

Published
2013

3. Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

Author

Hein, Rebecca, Maranian, Melanie, Hopper, John L, Kapuscinski, Miroslaw K, Southey, Melissa C, Park, Daniel J, Schmidt, Marjanka K, Broeks, Annegien, Hogervorst, Frans B. L, Bueno-de-Mesquit, H. Bas, Muir, Kenneth R, Lophatananon, Artitaya, Rattanamongkongul, Suthee, Puttawibul, Puttisak, Fasching, Peter A, Hein, Alexander, Ekici, Arif B, Beckmann, Matthias W, Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Peto, Julian, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Marmee, Frederick, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guénel, Pascal, Cordina-Duverger, Emilie, Menegaux, Florence, Truong, Thérèse, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Milne, Roger L, Perez, Jose Ignacio Arias, Zamora, M. Pilar, Benítez, Javier, Anton-Culver, Hoda, Ziogas, Argyrios, Bernstein, Leslie, Clarke, Christina A, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Rahman, Nazneen, Seal, Sheila, Turnbull, Clare, Renwick, Anthony, Meindl, Alfons, Schott, Sarah, Bartram, Claus R, Schmutzler, Rita K, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Wang-Gohrke, Shan, Dark, Thilo, Scharmann, Peter, Karstens, Johann H, Hillemanns, Peter, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia V, Zalutsky, Iosif V, Antonenkova, Natalia N, Bermisheva, Marina, Prokovieva, Darya, Farahtdinova, Albina, Khusnutdinova, Elza, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana, Chen, Xiaoqing, Beesley, Jonathan, Investigators, kConFab, Lambrechts, Diether, Zhao, Hui, Neven, Patrick, Wildiers, Hans, Nickels, Stefan, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Couch, Fergus J, Olson, Janet E, Wang, Xianshu, Fredericksen, Zachary, and Giles, Graham G

Subjects
susceptibility locus, chinese, women
Published
2012

4. Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.

Author

Kirchhoff, Tomas, Gaudet, Mia M, Antoniou, Antonis C, McGuffog, Lesley, Humphreys, Manjeet K, Dunning, Alison M, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schürmann, Peter, Karstens, Johann H, Hillemanns, Peter, Couch, Fergus J, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm WR, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, GENICA Network, Broeks, Annegien, Schmidt, Marjanka K, Van 't Veer, Laura J, Braaf, Linde M, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, Southey, Melissa C, Hopper, John L, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, Andrulis, Irene L, Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Juri I, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, van Asperen, Christi J, Tollenaar, Robert AEM, Hooning, Maartje J, Devilee, Peter, Margolin, Sara, Lindblom, Annika, Milne, Roger L, Arias, José Ignacio, Zamora, M Pilar, Benítez, Javier, Severi, Gianluca, Baglietto, Laura, Giles, Graham G, kConFab, AOCS Study Group, Spurdle, Amanda B, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, Agnarsson, Bjarni A, Caligo, Maria A, Godwin, Andrew K, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, Nathanson, Katherine L, Domchek, Susan M, SWE-BRCA, Loman, Niklas, Karlsson, Per, and Stenmark Askmalm, Marie

Subjects
GENICA Network, kConFab, AOCS Study Group, SWE-BRCA, HEBON, EMBRACE, BCAC/CIMBA, Chromosomes, Human, Pair 6, Humans, Breast Neoplasms, Genetic Predisposition to Disease, BRCA1 Protein, BRCA2 Protein, Receptors, Estrogen, Confidence Intervals, Proportional Hazards Models, Odds Ratio, Risk Factors, Heterozygote, Polymorphism, Single Nucleotide, Alleles, Middle Aged, Female, Genetic Association Studies, Chromosomes, Human, Pair 6, Polymorphism, Single Nucleotide, Receptors, Estrogen, General Science & Technology
Abstract

Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p =

Published
2012

5. Risk of Estrogen Receptor–Positive and –Negative Breast Cancer and Single–Nucleotide Polymorphism 2q35-rs13387042

Author

Milne, Roger L, Benítez, Javier, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Arias, José Ignacio, Zamora, M Pilar, Burwinkel, Barbara, Bartram, Claus R, Meindl, Alfons, Schmutzler, Rita K, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm WR, Southey, Melissa C, Smith, Letitia, Spurdle, Amanda B, Hopper, John L, Couch, Fergus J, Olson, Janet E, Wang, Xianshu, Fredericksen, Zachary, Schürmann, Peter, Bremer, Michael, Hillemanns, Peter, Dörk, Thilo, Devilee, Peter, van Asperen, Christie J, Tollenaar, Rob AEM, Seynaeve, Caroline, Hall, Per, Czene, Kamila, Liu, Jianjun, Li, Yuqing, Ahmed, Shahana, Dunning, Alison M, Maranian, Melanie, Pharoah, Paul DP, Chenevix-Trench, Georgia, Beesley, Jonathan, Investigators, kConFab, Group, AOCS, Bogdanova, Natalia V, Antonenkova, Natalia N, Zalutsky, Iosif V, Anton-Culver, Hoda, Ziogas, Argyrios, Brauch, Hiltrud, Justenhoven, Christina, Ko, Yon-Dschun, Haas, Susanne, Fasching, Peter A, Strick, Reiner, Ekici, Arif B, Beckmann, Matthias W, Giles, Graham G, Severi, Gianluca, Baglietto, Laura, English, Dallas R, Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Peto, Julian, Turnbull, Clare, Hines, Sarah, Renwick, Anthony, Rahman, Nazneen, Nordestgaard, Børge G, Bojesen, Stig E, Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, García-Closas, Montserrat, Chanock, Stephen, Lissowska, Jolanta, Brinton, Louise A, Chang-Claude, Jenny, Wang-Gohrke, Shan, Shen, Chen-Yang, Wang, Hui-Chun, Yu, Jyh-Cherng, Chen, Sou-Tong, Bermisheva, Marina, Nikolaeva, Tatjana, Khusnutdinova, Elza, Humphreys, Manjeet K, Morrison, Jonathan, Platte, Radka, Easton, Douglas F, and Consortium, on behalf of the Breast Cancer Association

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Breast Cancer, Clinical Research, Cancer, Human Genome, Estrogen, Adult, Aged, Asian People, Biomarkers, Tumor, Breast Neoplasms, Carcinoma, Ductal, Breast, Carcinoma, Intraductal, Noninfiltrating, Case-Control Studies, Confidence Intervals, Confounding Factors, Epidemiologic, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Linkage Disequilibrium, Middle Aged, Neoplasms, Hormone-Dependent, Odds Ratio, Polymorphism, Single Nucleotide, Receptors, Estrogen, Receptors, Progesterone, White People, kConFab Investigators, AOCS Group, Breast Cancer Association Consortium, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundA recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of susceptibility to estrogen receptor (ER)-positive breast cancer. We attempted to confirm this association using the Breast Cancer Association Consortium.Methods2q35-rs13387042 SNP was genotyped for 31 510 women with invasive breast cancer, 1101 women with ductal carcinoma in situ, and 35 969 female control subjects from 25 studies. Odds ratios (ORs) were estimated by logistic regression, adjusted for study. Heterogeneity in odds ratios by each of age, ethnicity, and study was assessed by fitting interaction terms. Heterogeneity by each of invasiveness, family history, bilaterality, and hormone receptor status was assessed by subclassifying case patients and applying polytomous logistic regression. All statistical tests were two-sided.ResultsWe found strong evidence of association between rs13387042 and breast cancer in white women of European origin (per-allele OR = 1.12, 95% confidence interval [CI] = 1.09 to 1.15; P(trend) = 1.0 x 10(-19)). The odds ratio was lower than that previously reported (P = .02) and did not vary by age or ethnicity (all P > or = .2). However, it was higher when the analysis was restricted to case patients who were selected for a strong family history (P = .02). An association was observed for both ER-positive (OR = 1.14, 95% CI = 1.10 to 1.17; P = 10(-15)) and ER-negative disease (OR = 1.10, 95% CI = 1.04 to 1.15; P = .0003) and both progesterone receptor (PR)-positive (OR = 1.15, 95% CI = 1.11 to 1.19; P = 5 x 10(-14)) and PR-negative disease (OR = 1.10, 95% CI = 1.06 to 1.15; P = .00002).ConclusionThe rs13387042 is associated with both ER-positive and ER-negative breast cancer in European women.

Published
2009

6. Data from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., primary, Goode, Ellen L., primary, García-Closas, Montserrat, primary, Couch, Fergus J., primary, Severi, Gianluca, primary, Hein, Rebecca, primary, Fredericksen, Zachary, primary, Malats, Núria, primary, Zamora, M. Pilar, primary, Pérez, Jose Ignacio Arias, primary, Benítez, Javier, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Karstens, Johann H., primary, Hillemanns, Peter, primary, Cox, Angela, primary, Brock, Ian W., primary, Elliot, Graeme, primary, Cross, Simon S., primary, Seal, Sheila, primary, Turnbull, Clare, primary, Renwick, Anthony, primary, Rahman, Nazneen, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Huang, Chiun-Sheng, primary, Hou, Ming-Feng, primary, Nordestgaard, Børge G., primary, Bojesen, Stig E., primary, Lanng, Charlotte, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børrensen-Dale, Anne-Lise, primary, Hopper, John L., primary, Dite, Gillian S., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Lambrechts, Diether, primary, Yesilyurt, Betül T., primary, Floris, Giuseppe, primary, Leunen, Karin, primary, Sangrajrang, Suleeporn, primary, Gaborieau, Valerie, primary, Brennan, Paul, primary, McKay, James, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Giles, Graham G., primary, Baglietto, Laura, primary, John, Esther M., primary, Miron, Alexander, primary, Chanock, Stephen J., primary, Lissowska, Jolanta, primary, Sherman, Mark E., primary, Figueroa, Jonine D., primary, Bogdanova, Natalia V., primary, Antonenkova, Natalia N., primary, Zalutsky, Iosif V., primary, Rogov, Yuri I., primary, Fasching, Peter A., primary, Bayer, Christian M., primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Mannermaa, Arto, primary, Kataja, Vesa, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Meindl, Alfons, primary, Heil, Joerg, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Thomas, Gilles D., primary, Hoover, Robert N., primary, Fletcher, Olivia, primary, Gibson, Lorna J., primary, dos Santos Silva, Isabel, primary, Peto, Julian, primary, Nickels, Stefan, primary, Flesch-Janys, Dieter, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Miller, Nicola, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Van ‘t Veer, Laura J., primary, Tollenaar, Rob A.E.M., primary, Pharoah, Paul D.P., primary, Dunning, Alison M., primary, Pooley, Karen A., primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Burwinkel, Barbara, primary, Jakubowska, Anna, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Kang, Daehee, primary, Yoo, Keun-Young, primary, Noh, Dong-Young, primary, Ahn, Sei-Hyun, primary, Hunter, David J., primary, Hankinson, Susan E., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Chen, Xiaoqing, primary, Beesley, Jonathan, primary, Hamann, Ute, primary, Harth, Volker, primary, Justenhoven, Christina, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Hooning, Maartje, primary, Hollestelle, Antoinette, primary, Oldenburg, Rogier A., primary, Tilanus-Linthorst, Madeleine, primary, Khusnutdinova, Elza, primary, Bermisheva, Marina, primary, Prokofieva, Darya, primary, Farahtdinova, Albina, primary, Olson, Janet E., primary, Wang, Xianshu, primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

Published
2023
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7. Supplementary Table 3 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., primary, Goode, Ellen L., primary, García-Closas, Montserrat, primary, Couch, Fergus J., primary, Severi, Gianluca, primary, Hein, Rebecca, primary, Fredericksen, Zachary, primary, Malats, Núria, primary, Zamora, M. Pilar, primary, Pérez, Jose Ignacio Arias, primary, Benítez, Javier, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Karstens, Johann H., primary, Hillemanns, Peter, primary, Cox, Angela, primary, Brock, Ian W., primary, Elliot, Graeme, primary, Cross, Simon S., primary, Seal, Sheila, primary, Turnbull, Clare, primary, Renwick, Anthony, primary, Rahman, Nazneen, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Huang, Chiun-Sheng, primary, Hou, Ming-Feng, primary, Nordestgaard, Børge G., primary, Bojesen, Stig E., primary, Lanng, Charlotte, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børrensen-Dale, Anne-Lise, primary, Hopper, John L., primary, Dite, Gillian S., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Lambrechts, Diether, primary, Yesilyurt, Betül T., primary, Floris, Giuseppe, primary, Leunen, Karin, primary, Sangrajrang, Suleeporn, primary, Gaborieau, Valerie, primary, Brennan, Paul, primary, McKay, James, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Giles, Graham G., primary, Baglietto, Laura, primary, John, Esther M., primary, Miron, Alexander, primary, Chanock, Stephen J., primary, Lissowska, Jolanta, primary, Sherman, Mark E., primary, Figueroa, Jonine D., primary, Bogdanova, Natalia V., primary, Antonenkova, Natalia N., primary, Zalutsky, Iosif V., primary, Rogov, Yuri I., primary, Fasching, Peter A., primary, Bayer, Christian M., primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Mannermaa, Arto, primary, Kataja, Vesa, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Meindl, Alfons, primary, Heil, Joerg, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Thomas, Gilles D., primary, Hoover, Robert N., primary, Fletcher, Olivia, primary, Gibson, Lorna J., primary, dos Santos Silva, Isabel, primary, Peto, Julian, primary, Nickels, Stefan, primary, Flesch-Janys, Dieter, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Miller, Nicola, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Van ‘t Veer, Laura J., primary, Tollenaar, Rob A.E.M., primary, Pharoah, Paul D.P., primary, Dunning, Alison M., primary, Pooley, Karen A., primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Burwinkel, Barbara, primary, Jakubowska, Anna, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Kang, Daehee, primary, Yoo, Keun-Young, primary, Noh, Dong-Young, primary, Ahn, Sei-Hyun, primary, Hunter, David J., primary, Hankinson, Susan E., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Chen, Xiaoqing, primary, Beesley, Jonathan, primary, Hamann, Ute, primary, Harth, Volker, primary, Justenhoven, Christina, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Hooning, Maartje, primary, Hollestelle, Antoinette, primary, Oldenburg, Rogier A., primary, Tilanus-Linthorst, Madeleine, primary, Khusnutdinova, Elza, primary, Bermisheva, Marina, primary, Prokofieva, Darya, primary, Farahtdinova, Albina, primary, Olson, Janet E., primary, Wang, Xianshu, primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

Published
2023
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8. Supplementary Table 1 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., primary, Goode, Ellen L., primary, García-Closas, Montserrat, primary, Couch, Fergus J., primary, Severi, Gianluca, primary, Hein, Rebecca, primary, Fredericksen, Zachary, primary, Malats, Núria, primary, Zamora, M. Pilar, primary, Pérez, Jose Ignacio Arias, primary, Benítez, Javier, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Karstens, Johann H., primary, Hillemanns, Peter, primary, Cox, Angela, primary, Brock, Ian W., primary, Elliot, Graeme, primary, Cross, Simon S., primary, Seal, Sheila, primary, Turnbull, Clare, primary, Renwick, Anthony, primary, Rahman, Nazneen, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Huang, Chiun-Sheng, primary, Hou, Ming-Feng, primary, Nordestgaard, Børge G., primary, Bojesen, Stig E., primary, Lanng, Charlotte, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børrensen-Dale, Anne-Lise, primary, Hopper, John L., primary, Dite, Gillian S., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Lambrechts, Diether, primary, Yesilyurt, Betül T., primary, Floris, Giuseppe, primary, Leunen, Karin, primary, Sangrajrang, Suleeporn, primary, Gaborieau, Valerie, primary, Brennan, Paul, primary, McKay, James, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Giles, Graham G., primary, Baglietto, Laura, primary, John, Esther M., primary, Miron, Alexander, primary, Chanock, Stephen J., primary, Lissowska, Jolanta, primary, Sherman, Mark E., primary, Figueroa, Jonine D., primary, Bogdanova, Natalia V., primary, Antonenkova, Natalia N., primary, Zalutsky, Iosif V., primary, Rogov, Yuri I., primary, Fasching, Peter A., primary, Bayer, Christian M., primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Mannermaa, Arto, primary, Kataja, Vesa, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Meindl, Alfons, primary, Heil, Joerg, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Thomas, Gilles D., primary, Hoover, Robert N., primary, Fletcher, Olivia, primary, Gibson, Lorna J., primary, dos Santos Silva, Isabel, primary, Peto, Julian, primary, Nickels, Stefan, primary, Flesch-Janys, Dieter, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Miller, Nicola, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Van ‘t Veer, Laura J., primary, Tollenaar, Rob A.E.M., primary, Pharoah, Paul D.P., primary, Dunning, Alison M., primary, Pooley, Karen A., primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Burwinkel, Barbara, primary, Jakubowska, Anna, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Kang, Daehee, primary, Yoo, Keun-Young, primary, Noh, Dong-Young, primary, Ahn, Sei-Hyun, primary, Hunter, David J., primary, Hankinson, Susan E., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Chen, Xiaoqing, primary, Beesley, Jonathan, primary, Hamann, Ute, primary, Harth, Volker, primary, Justenhoven, Christina, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Hooning, Maartje, primary, Hollestelle, Antoinette, primary, Oldenburg, Rogier A., primary, Tilanus-Linthorst, Madeleine, primary, Khusnutdinova, Elza, primary, Bermisheva, Marina, primary, Prokofieva, Darya, primary, Farahtdinova, Albina, primary, Olson, Janet E., primary, Wang, Xianshu, primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

Published
2023
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9. Supplementary Table 2 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., primary, Goode, Ellen L., primary, García-Closas, Montserrat, primary, Couch, Fergus J., primary, Severi, Gianluca, primary, Hein, Rebecca, primary, Fredericksen, Zachary, primary, Malats, Núria, primary, Zamora, M. Pilar, primary, Pérez, Jose Ignacio Arias, primary, Benítez, Javier, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Karstens, Johann H., primary, Hillemanns, Peter, primary, Cox, Angela, primary, Brock, Ian W., primary, Elliot, Graeme, primary, Cross, Simon S., primary, Seal, Sheila, primary, Turnbull, Clare, primary, Renwick, Anthony, primary, Rahman, Nazneen, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Huang, Chiun-Sheng, primary, Hou, Ming-Feng, primary, Nordestgaard, Børge G., primary, Bojesen, Stig E., primary, Lanng, Charlotte, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børrensen-Dale, Anne-Lise, primary, Hopper, John L., primary, Dite, Gillian S., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Lambrechts, Diether, primary, Yesilyurt, Betül T., primary, Floris, Giuseppe, primary, Leunen, Karin, primary, Sangrajrang, Suleeporn, primary, Gaborieau, Valerie, primary, Brennan, Paul, primary, McKay, James, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Giles, Graham G., primary, Baglietto, Laura, primary, John, Esther M., primary, Miron, Alexander, primary, Chanock, Stephen J., primary, Lissowska, Jolanta, primary, Sherman, Mark E., primary, Figueroa, Jonine D., primary, Bogdanova, Natalia V., primary, Antonenkova, Natalia N., primary, Zalutsky, Iosif V., primary, Rogov, Yuri I., primary, Fasching, Peter A., primary, Bayer, Christian M., primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Mannermaa, Arto, primary, Kataja, Vesa, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Meindl, Alfons, primary, Heil, Joerg, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Thomas, Gilles D., primary, Hoover, Robert N., primary, Fletcher, Olivia, primary, Gibson, Lorna J., primary, dos Santos Silva, Isabel, primary, Peto, Julian, primary, Nickels, Stefan, primary, Flesch-Janys, Dieter, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Miller, Nicola, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Van ‘t Veer, Laura J., primary, Tollenaar, Rob A.E.M., primary, Pharoah, Paul D.P., primary, Dunning, Alison M., primary, Pooley, Karen A., primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Burwinkel, Barbara, primary, Jakubowska, Anna, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Kang, Daehee, primary, Yoo, Keun-Young, primary, Noh, Dong-Young, primary, Ahn, Sei-Hyun, primary, Hunter, David J., primary, Hankinson, Susan E., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Chen, Xiaoqing, primary, Beesley, Jonathan, primary, Hamann, Ute, primary, Harth, Volker, primary, Justenhoven, Christina, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Hooning, Maartje, primary, Hollestelle, Antoinette, primary, Oldenburg, Rogier A., primary, Tilanus-Linthorst, Madeleine, primary, Khusnutdinova, Elza, primary, Bermisheva, Marina, primary, Prokofieva, Darya, primary, Farahtdinova, Albina, primary, Olson, Janet E., primary, Wang, Xianshu, primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

Published
2023
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10. Supplementary Table 4 from Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor–Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., primary, Goode, Ellen L., primary, García-Closas, Montserrat, primary, Couch, Fergus J., primary, Severi, Gianluca, primary, Hein, Rebecca, primary, Fredericksen, Zachary, primary, Malats, Núria, primary, Zamora, M. Pilar, primary, Pérez, Jose Ignacio Arias, primary, Benítez, Javier, primary, Dörk, Thilo, primary, Schürmann, Peter, primary, Karstens, Johann H., primary, Hillemanns, Peter, primary, Cox, Angela, primary, Brock, Ian W., primary, Elliot, Graeme, primary, Cross, Simon S., primary, Seal, Sheila, primary, Turnbull, Clare, primary, Renwick, Anthony, primary, Rahman, Nazneen, primary, Shen, Chen-Yang, primary, Yu, Jyh-Cherng, primary, Huang, Chiun-Sheng, primary, Hou, Ming-Feng, primary, Nordestgaard, Børge G., primary, Bojesen, Stig E., primary, Lanng, Charlotte, primary, Alnæs, Grethe Grenaker, primary, Kristensen, Vessela, primary, Børrensen-Dale, Anne-Lise, primary, Hopper, John L., primary, Dite, Gillian S., primary, Apicella, Carmel, primary, Southey, Melissa C., primary, Lambrechts, Diether, primary, Yesilyurt, Betül T., primary, Floris, Giuseppe, primary, Leunen, Karin, primary, Sangrajrang, Suleeporn, primary, Gaborieau, Valerie, primary, Brennan, Paul, primary, McKay, James, primary, Chang-Claude, Jenny, primary, Wang-Gohrke, Shan, primary, Radice, Paolo, primary, Peterlongo, Paolo, primary, Manoukian, Siranoush, primary, Barile, Monica, primary, Giles, Graham G., primary, Baglietto, Laura, primary, John, Esther M., primary, Miron, Alexander, primary, Chanock, Stephen J., primary, Lissowska, Jolanta, primary, Sherman, Mark E., primary, Figueroa, Jonine D., primary, Bogdanova, Natalia V., primary, Antonenkova, Natalia N., primary, Zalutsky, Iosif V., primary, Rogov, Yuri I., primary, Fasching, Peter A., primary, Bayer, Christian M., primary, Ekici, Arif B., primary, Beckmann, Matthias W., primary, Brenner, Hermann, primary, Müller, Heiko, primary, Arndt, Volker, primary, Stegmaier, Christa, primary, Andrulis, Irene L., primary, Knight, Julia A., primary, Glendon, Gord, primary, Mulligan, Anna Marie, primary, Mannermaa, Arto, primary, Kataja, Vesa, primary, Kosma, Veli-Matti, primary, Hartikainen, Jaana M., primary, Meindl, Alfons, primary, Heil, Joerg, primary, Bartram, Claus R., primary, Schmutzler, Rita K., primary, Thomas, Gilles D., primary, Hoover, Robert N., primary, Fletcher, Olivia, primary, Gibson, Lorna J., primary, dos Santos Silva, Isabel, primary, Peto, Julian, primary, Nickels, Stefan, primary, Flesch-Janys, Dieter, primary, Anton-Culver, Hoda, primary, Ziogas, Argyrios, primary, Sawyer, Elinor, primary, Tomlinson, Ian, primary, Kerin, Michael, primary, Miller, Nicola, primary, Schmidt, Marjanka K., primary, Broeks, Annegien, primary, Van ‘t Veer, Laura J., primary, Tollenaar, Rob A.E.M., primary, Pharoah, Paul D.P., primary, Dunning, Alison M., primary, Pooley, Karen A., primary, Marme, Frederik, primary, Schneeweiss, Andreas, primary, Sohn, Christof, primary, Burwinkel, Barbara, primary, Jakubowska, Anna, primary, Lubinski, Jan, primary, Jaworska, Katarzyna, primary, Durda, Katarzyna, primary, Kang, Daehee, primary, Yoo, Keun-Young, primary, Noh, Dong-Young, primary, Ahn, Sei-Hyun, primary, Hunter, David J., primary, Hankinson, Susan E., primary, Kraft, Peter, primary, Lindstrom, Sara, primary, Chen, Xiaoqing, primary, Beesley, Jonathan, primary, Hamann, Ute, primary, Harth, Volker, primary, Justenhoven, Christina, primary, Winqvist, Robert, primary, Pylkäs, Katri, primary, Jukkola-Vuorinen, Arja, primary, Grip, Mervi, primary, Hooning, Maartje, primary, Hollestelle, Antoinette, primary, Oldenburg, Rogier A., primary, Tilanus-Linthorst, Madeleine, primary, Khusnutdinova, Elza, primary, Bermisheva, Marina, primary, Prokofieva, Darya, primary, Farahtdinova, Albina, primary, Olson, Janet E., primary, Wang, Xianshu, primary, Humphreys, Manjeet K., primary, Wang, Qin, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

Published
2023
Full Text
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12. Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25

Author

Litchfield, Kevin, Sultana, Razvan, Renwick, Anthony, Dudakia, Darshna, Seal, Sheila, Ramsay, Emma, Powell, Silvana, Elliott, Anna, Warren-Perry, Margaret, Eeles, Rosalind, Peto, Julian, Kote-Jarai, Zsofia, Muir, Kenneth, Nsengimana, Jeremie, Stratton, Michael R., Easton, Douglas F., Bishop, D. Timothy, Huddart, Robert A., Rahman, Nazneen, Turnbull, Clare, Pugh, J., Linger, R., Marke, J., Hughes, D., Pernet, D., Hall, P., Easton, D.F., Berchuck, A., Eeles, R., Chenevix-Trench, G., Dennis, J., Dunning, A.M., Lee, A., Dicks, E., Easton, D.F., Benitez, J., Gonzalez-Neira, A., Simard, J., Tessier, D.C., Bacot, F., Vincent, D., LaBoissière, S., Robidoux, F., Bojesen, S.E., Nielsen, S.F., Nordestgaard, B.G., Cunningham, J.M., Windebank, S.A., Hilker, C.A., and Meyer, J.

Published
2015
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15. Additional file 8 of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Abstract

Additional file 8: Co-AP assays involving MRG15 and MRGX. Supplementary Figure 4 containing results of co-AP assays involving MRG15 and MRGX. (PDF 1 MB)

Published
2020
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16. Additional file 7 of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Subjects
ComputingMethodologies_PATTERNRECOGNITION, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Hardware_INTEGRATEDCIRCUITS, Hardware_REGISTER-TRANSFER-LEVELIMPLEMENTATION
Abstract

Additional file 7: Co-AP and co-IP assays. Supplementary Figure 3 containing results of the co-AP and co-IP assays. (PDF 3 MB)

Published
2020
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17. Additional file 16 of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Subjects
Data_FILES
Abstract

Authors’ original file for figure 2

Published
2020
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18. Additional file 5 of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Subjects
fungi
Abstract

Additional file 5: Gene co-expression. Supplementary Figure 1 containing results of the gene co-expression analysis. (PDF 638 KB)

Published
2020
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19. Additional file 9 of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, hemic and lymphatic diseases, nutritional and metabolic diseases
Abstract

Additional file 9: siRNA-mediated depletion of MRG15 and FANCD2 monoubiquitinylation. Supplementary Figure 5 containing results of siRNA-mediated depletion of MRG15 and FANCD2 monoubiquitinylation. (PDF 1 MB)

Published
2020
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20. Additional file of Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-De-La-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Conxi Lázaro, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Nazneen Rahman, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, D Gareth Evans, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Kai-Ren Ong, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Xiaoqing Chen, Beesley, Jonathan, Rookus, Matti A, Senno Verhoef, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, Os, Theo A Van, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Xianshu Wang, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Ramunas Janavicius, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, Pauw, Antoine De, Yves-Jean Bignon, Uhrhammer, Nancy, Jean-Philippe Peyrat, Vennin, Philippe, Ferrer, Sandra Fert, Marie-Agnès Collonge-Rame, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Subjects
skin and connective tissue diseases
Abstract

Additional file of Exploring the link between MORF4L1 and risk of breast cancer

Published
2020
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21. Gene–gene interactions in breast cancer susceptibility

Author

Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Warren-Perry, Margaret, Hughes, Deborah, Elliott, Anna, Pernet, David, Peock, Susan, Adlard, Julian W., Barwell, Julian, Berg, Jonathan, Brady, Angela F., Brewer, Carole, Brice, Glen, Chapman, Cyril, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Douglas, Fiona, Greenhalgh, Lynn, Henderson, Alex, Izatt, Louise, Kumar, Ajith, Lalloo, Fiona, Miedzybrodzka, Zosia, Morrison, Patrick J, Paterson, Joan, Porteous, Mary, Rogers, Mark T., Shanley, Susan, Walker, Lisa, Ahmed, Munaza, Eccles, Diana, Evans, D. Gareth, Donnelly, Peter, Easton, Douglas F., Stratton, Michael R., and Rahman, Nazneen

Published
2012
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22. Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium†

Author

Figueroa, Jonine D., Garcia-Closas, Montserrat, Humphreys, Manjeet, Platte, Radka, Hopper, John L., Southey, Melissa C., Apicella, Carmel, Hammet, Fleur, Schmidt, Marjanka K., Broeks, Annegien, Tollenaar, Rob A.E.M., Vanʼt Veer, Laura J., Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Strick, Reiner, Peto, Julian, dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Burwinkel, Barbara, Marme, Federik, Schneeweiss, Andreas, Sohn, Christof, Bojesen, Stig, Flyger, Henrik, Nordestgaard, Børge G., Benítez, Javier, Milne, Roger L., Ignacio Arias, Jose, Zamora, M. Pilar, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Rahman, Nazneen, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Brauch, Hiltrud, Justenhoven, Christina, Brüning, Thomas, Chang-Claude, Jenny, Hein, Rebecca, Wang-Gohrke, Shan, Dörk, Thilo, Schürmann, Peter, Bremer, Michael, Hillemanns, Peter, Nevanlinna, Heli, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Yuri I., Karstens, Johann Hinrich, Bermisheva, Marina, Prokofieva, Darya, Hanafievich Gantcev, Shamil, Khusnutdinova, Elza, Lindblom, Annika, Margolin, Sara, Chenevix-Trench, Georgia, Beesley, Jonathan, Chen, Xiaoqing, Mannermaa, Arto, Kosma, Veli-Matti, Soini, Ylermi, Kataja, Vesa, Lambrechts, Diether, Yesilyurt, Betül T., Chrisiaens, Marie-Rose, Peeters, Stephanie, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Couch, Fergus, Lee, Adam M., Diasio, Robert, Wang, Xianshu, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Maclean, Catriona, Offit, Ken, Robson, Mark, Joseph, Vijai, Gaudet, Mia, John, Esther M., Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Andrulis, Irene, Knight, Julia A., Marie Mulligan, Anna, OʼMalley, Frances P., Brinton, Louise A., Sherman, Mark E., Lissowska, Jolanta, Chanock, Stephen J., Hooning, Maartje, Martens, John W.M., van den Ouweland, Ans M.W., Collée, J. Margriet, Hall, Per, Czene, Kamila, Cox, Angela, Brock, Ian W., Reed, Malcolm W.R., Cross, Simon S., Pharoah, Paul, Dunning, Alison M., Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, McKay, James, Shen, Chen-Yang, Ding, Shian-ling, Hsu, Huan-Ming, Yu, Jyh-Cherng, Anton-Culver, Hoda, Ziogas, Argyrios, Ashworth, Alan, Swerdlow, Anthony, Jones, Michael, Orr, Nick, Trentham-Dietz, Amy, Egan, Kathleen, Newcomb, Polly, Titus-Ernstoff, Linda, Easton, Doug, and Spurdle, Amanda B.

Published
2011
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23. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Author

Craddock, Nick, Hurles, Matthew E., Cardin, Niall, Pearson, Richard D., Plagnol, Vincent, Robson, Samuel, Vukcevic, Damjan, Barnes, Chris, Conrad, Donald F., Giannoulatou, Eleni, Holmes, Chris, Marchini, Jonathan L., Stirrups, Kathy, Tobin, Martin D., Wain, Louise V., Yau, Chris, Aerts, Jan, Ahmad, Tariq, Daniel Andrews, T., Arbury, Hazel, Attwood, Anthony, Auton, Adam, Ball, Stephen G., Balmforth, Anthony J., Barrett, Jeffrey C., Barroso, Inês, Barton, Anne, Bennett, Amanda J., Bhaskar, Sanjeev, Blaszczyk, Katarzyna, Bowes, John, Brand, Oliver J., Braund, Peter S., Bredin, Francesca, Breen, Gerome, Brown, Morris J., Bruce, Ian N., Bull, Jaswinder, Burren, Oliver S., Burton, John, Byrnes, Jake, Caesar, Sian, Clee, Chris M., Coffey, Alison J., Connell, John M. C., Cooper, Jason D., Dominiczak, Anna F., Downes, Kate, Drummond, Hazel E., Dudakia, Darshna, Dunham, Andrew, Ebbs, Bernadette, Eccles, Diana, Edkins, Sarah, Edwards, Cathryn, Elliot, Anna, Emery, Paul, Evans, David M., Evans, Gareth, Eyre, Steve, Farmer, Anne, Nicol Ferrier, I., Feuk, Lars, Fitzgerald, Tomas, Flynn, Edward, Forbes, Alistair, Forty, Liz, Franklyn, Jayne A., Freathy, Rachel M., Gibbs, Polly, Gilbert, Paul, Gokumen, Omer, Gordon-Smith, Katherine, Gray, Emma, Green, Elaine, Groves, Chris J., Grozeva, Detelina, Gwilliam, Rhian, Hall, Anita, Hammond, Naomi, Hardy, Matt, Harrison, Pile, Hassanali, Neelam, Hebaishi, Husam, Hines, Sarah, Hinks, Anne, Hitman, Graham A, Hocking, Lynne, Howard, Eleanor, Howard, Philip, Howson, Joanna M. M., Hughes, Debbie, Hunt, Sarah, Isaacs, John D., Jain, Mahim, Jewell, Derek P., Johnson, Toby, Jolley, Jennifer D., Jones, Ian R., Jones, Lisa A., Kirov, George, Langford, Cordelia F., Lango-Allen, Hana, Mark Lathrop, G., Lee, James, Lee, Kate L., Lees, Charlie, Lewis, Kevin, Lindgren, Cecilia M., Maisuria-Armer, Meeta, Maller, Julian, Mansfield, John, Martin, Paul, Massey, Dunecan C. O., McArdle, Wendy L., McGuffin, Peter, McLay, Kirsten E., Mentzer, Alex, Mimmack, Michael L., Morgan, Ann E., Morris, Andrew P., Mowat, Craig, Myers, Simon, Newman, William, Nimmo, Elaine R., O’Donovan, Michael C., Onipinla, Abiodun, Onyiah, Ifejinelo, Ovington, Nigel R., Owen, Michael J., Palin, Kimmo, Parnell, Kirstie, Pernet, David, Perry, John R. B., Phillips, Anne, Pinto, Dalila, Prescott, Natalie J., Prokopenko, Inga, Quail, Michael A., Rafelt, Suzanne, Rayner, Nigel W., Redon, Richard, Reid, David M., Renwick, Anthony, Ring, Susan M., Robertson, Neil, Russell, Ellie, St Clair, David, Sambrook, Jennifer G., Sanderson, Jeremy D., Schuilenburg, Helen, Scott, Carol E., Scott, Richard, Seal, Sheila, Shaw-Hawkins, Sue, Shields, Beverley M., Simmonds, Matthew J., Smyth, Debbie J., Somaskantharajah, Elilan, Spanova, Katarina, Steer, Sophia, Stephens, Jonathan, Stevens, Helen E., Stone, Millicent A., Su, Zhan, Symmons, Deborah P. M., Thompson, John R., Thomson, Wendy, Travers, Mary E., Turnbull, Clare, Valsesia, Armand, Walker, Mark, Walker, Neil M., Wallace, Chris, Warren-Perry, Margaret, Watkins, Nicholas A., Webster, John, Weedon, Michael N., Wilson, Anthony G., Woodburn, Matthew, Wordsworth, Paul B., Young, Allan H., Zeggini, Eleftheria, Carter, Nigel P., Frayling, Timothy M., Lee, Charles, McVean, Gil, Munroe, Patricia B., Palotie, Aarno, Sawcer, Stephen J., Scherer, Stephen W., Strachan, David P., Tyler-Smith, Chris, Brown, Matthew A., Burton, Paul R., Caulfield, Mark J., Compston, Alastair, Farrall, Martin, Gough, Stephen C. L., Hall, Alistair S., Hattersley, Andrew T., Hill, Adrian V. S., Mathew, Christopher G., Pembrey, Marcus, Satsangi, Jack, Stratton, Michael R., Worthington, Jane, Deloukas, Panos, Duncanson, Audrey, Kwiatkowski, Dominic P., McCarthy, Mark I., Ouwehand, Willem H., Parkes, Miles, Rahman, Nazneen, Todd, John A., Samani, Nilesh J., and Donnelly, Peter

Published
2010
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26. Evaluation of RAD50 in familial breast cancer predisposition

Author

Tommiska, Johanna, Seal, Sheila, Renwick, Anthony, Barfoot, Rita, Baskcomb, Linda, Jayatilake, Hiran, Bartkova, Jirina, Tallila, Jonna, Kaare, Milja, Tamminen, Anitta, Heikkilä, Päivi, Evans, Gareth D., Eccles, Diana, Aittomäki, Kristiina, Blomqvist, Carl, Bartek, Jiri, Stratton, Michael R., Nevanlinna, Heli, and Rahman, Nazneen

Published
2006
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28. Exploring the link between MORF4L1 and risk of breast cancer

Author

Martrat, Griselda, Maxwell, Christopher A, Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Núria, Gómez-Baldó, Laia, Bogliolo, Massimo, Lázaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernández-Rodríguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Kühl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramírez, María J, Castellà, María, Hernández, Gonzalo, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Platte, Radka, Evans, D Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J, Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, Rookus, Matti A, Verhoef, Senno, Tilanus-Linthorst, Madeleine A, Vreeswijk, Maaike P, Asperen, Christi J, Bodmer, Danielle, Ausems, Margreet GEM, van Os, Theo A, Blok, Marinus J, Meijers-Heijboer, Hanne EJ, Hogervorst, Frans BL, Goldgar, David E, Buys, Saundra, John, Esther M, Miron, Alexander, Southey, Melissa, Daly, Mary B, Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy R, Johannsson, Oskar Thor, Couch, Fergus J, Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Víctor, Pientka, Friederike K, Depping, Reinhard, Caldés, Trinidad, Osorio, Ana, Benítez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K, Imyanitov, Evgeny N, Janavicius, Ramunas, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Ferrer, Sandra Fert, Collonge-Rame, Marie-Agnès, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M, Antoniou, Antonis C, Cerón, Julián, Tominaga, Kaoru, Surrallés, Jordi, and Pujana, Miguel Angel

Published
2011
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37. Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours

Author

Litchfield, Kevin, Summersgill, Brenda, Yost, Shawn, Sultana, Razvan, Labreche, Karim, Dudakia, Darshna, Renwick, Anthony, Seal, Sheila, Al-Saadi, Reem, Broderick, Peter, Turner, Nicholas C., Houlston, Richard S., Huddart, Robert, Shipley, Janet, Turnbull, Clare, Administateur, HAL Sorbonne Université, Division of genetics and epidemiology, The institute of cancer research [London], Divisions of molecular pathology and cancer therapeutics, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), The Breakthrough Breast Cancer Research Centre, Institute of cancer research, Academic Radiotherapy Unit, William Harvey Research Institute, Barts and the London Medical School, and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Adult, Male, DNA Mutational Analysis, Gene Dosage, [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Polymorphism, Single Nucleotide, Article, Cohort Studies, Testicular Neoplasms, [SDV.CAN] Life Sciences [q-bio]/Cancer, Spermatocytes, Genetics, Humans, Exome, Genes, Tumor Suppressor, Cancer, Chromosome Aberrations, Chromosomes, Human, Pair 12, Interleukins, Middle Aged, Neoplasms, Germ Cell and Embryonal, Seminoma, DNA-Binding Proteins, Proto-Oncogene Proteins c-kit, Biological sciences, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Disease Progression, Cisplatin
Abstract

Testicular germ cell tumours (TGCTs) are the most common cancer in young men. Here we perform whole-exome sequencing (WES) of 42 TGCTs to comprehensively study the cancer's mutational profile. The mutation rate is uniformly low in all of the tumours (mean 0.5 mutations per Mb) as compared with common cancers, consistent with the embryological origin of TGCT. In addition to expected copy number gain of chromosome 12p and mutation of KIT, we identify recurrent mutations in the tumour suppressor gene CDC27 (11.9%). Copy number analysis reveals recurring amplification of the spermatocyte development gene FSIP2 (15.3%) and a 0.4 Mb region at Xq28 (15.3%). Two treatment-refractory patients are shown to harbour XRCC2 mutations, a gene strongly implicated in defining cisplatin resistance. Our findings provide further insights into genes involved in the development and progression of TGCT., Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here, the authors sequence the whole exomes of 42 TGCTs, and characterize the mutational profile of this tumour type.

Published
2015

39. A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

Author

Bodea, Corneliu A., primary, Neale, Benjamin M., additional, Ripke, Stephan, additional, Daly, Mark J., additional, Devlin, Bernie, additional, Roeder, Kathryn, additional, Barclay, Murray, additional, Peyrin-Biroulet, Laurent, additional, Chamaillard, Mathias, additional, Colombel, Jean-Frederick, additional, Cottone, Mario, additional, Croft, Anthony, additional, D’Incà, Renata, additional, Halfvarson, Jonas, additional, Hanigan, Katherine, additional, Henderson, Paul, additional, Hugot, Jean-Pierre, additional, Karban, Amir, additional, Kennedy, Nicholas A., additional, Khan, Mohammed Azam, additional, Lémann, Marc, additional, Levine, Arie, additional, Massey, Dunecan, additional, Milla, Monica, additional, Montgomery, Grant W., additional, Ng, Sok Meng Evelyn, additional, Oikonomou, Ioannis, additional, Peeters, Harald, additional, Proctor, Deborah D., additional, Rahier, Jean-Francois, additional, Roberts, Rebecca, additional, Rutgeerts, Paul, additional, Seibold, Frank, additional, Stronati, Laura, additional, Taylor, Kirstin M., additional, Törkvist, Leif, additional, Ublick, Kullak, additional, Van Limbergen, Johan, additional, Van Gossum, Andre, additional, Vatn, Morten H., additional, Zhang, Hu, additional, Zhang, Wei, additional, Andrews, Jane M., additional, Bampton, Peter A., additional, Florin, Timothy H., additional, Gearry, Richard, additional, Krishnaprasad, Krupa, additional, Lawrance, Ian C., additional, Mahy, Gillian, additional, Radford-Smith, Graham, additional, Roberts, Rebecca L., additional, Simms, Lisa A., additional, Amininijad, Leila, additional, Cleynen, Isabelle, additional, Dewit, Olivier, additional, Franchimont, Denis, additional, Georges, Michel, additional, Laukens, Debby, additional, Theatre, Emilie, additional, Van Gossum, André, additional, Vermeire, Severine, additional, Aumais, Guy, additional, Baidoo, Leonard, additional, Barrie, Arthur M., additional, Beck, Karen, additional, Bernard, Edmond-Jean, additional, Binion, David G., additional, Bitton, Alain, additional, Brant, Steve R., additional, Cho, Judy H., additional, Cohen, Albert, additional, Croitoru, Kenneth, additional, Datta, Lisa W., additional, Deslandres, Colette, additional, Duerr, Richard H., additional, Dutridge, Debra, additional, Ferguson, John, additional, Fultz, Joann, additional, Goyette, Philippe, additional, Greenberg, Gordon R., additional, Haritunians, Talin, additional, Jobin, Gilles, additional, Katz, Seymour, additional, Lahaie, Raymond G., additional, McGovern, Dermot P., additional, Nelson, Linda, additional, Ng, Sok Meng, additional, Ning, Kaida, additional, Paré, Pierre, additional, Regueiro, Miguel D., additional, Rioux, John D., additional, Ruggiero, Elizabeth, additional, Schumm, L. Philip, additional, Schwartz, Marc, additional, Scott, Regan, additional, Sharma, Yashoda, additional, Silverberg, Mark S., additional, Spears, Denise, additional, Steinhart, A. Hillary, additional, Stempak, Joanne M., additional, Swoger, Jason M., additional, Tsagarelis, Constantina, additional, Zhang, Clarence, additional, Zhao, Hongyu, additional, Aerts, Jan, additional, Ahmad, Tariq, additional, Arbury, Hazel, additional, Attwood, Anthony, additional, Auton, Adam, additional, Ball, Stephen G., additional, Balmforth, Anthony J., additional, Barnes, Chris, additional, Barrett, Jeffrey C., additional, Barroso, Inês, additional, Barton, Anne, additional, Bennett, Amanda J., additional, Bhaskar, Sanjeev, additional, Blaszczyk, Katarzyna, additional, Bowes, John, additional, Brand, Oliver J., additional, Braund, Peter S., additional, Bredin, Francesca, additional, Breen, Gerome, additional, Brown, Morris J., additional, Bruce, Ian N., additional, Bull, Jaswinder, additional, Burren, Oliver S., additional, Burton, John, additional, Byrnes, Jake, additional, Caesar, Sian, additional, Cardin, Niall, additional, Clee, Chris M., additional, Coffey, Alison J., additional, Connell, John M.C., additional, Conrad, Donald F., additional, Cooper, Jason D., additional, Dominiczak, Anna F., additional, Downes, Kate, additional, Drummond, Hazel E., additional, Dudakia, Darshna, additional, Dunham, Andrew, additional, Ebbs, Bernadette, additional, Eccles, Diana, additional, Edkins, Sarah, additional, Edwards, Cathryn, additional, Elliot, Anna, additional, Emery, Paul, additional, Evans, David M., additional, Evans, Gareth, additional, Eyre, Steve, additional, Farmer, Anne, additional, Ferrier, Nicol, additional, Flynn, Edward, additional, Forbes, Alistair, additional, Forty, Liz, additional, Franklyn, Jayne A., additional, Frayling, Timothy M., additional, Freathy, Rachel M., additional, Giannoulatou, Eleni, additional, Gibbs, Polly, additional, Gilbert, Paul, additional, Gordon-Smith, Katherine, additional, Gray, Emma, additional, Green, Elaine, additional, Groves, Chris J., additional, Grozeva, Detelina, additional, Gwilliam, Rhian, additional, Hall, Anita, additional, Hammond, Naomi, additional, Hardy, Matt, additional, Harrison, Pile, additional, Hassanali, Neelam, additional, Hebaishi, Husam, additional, Hines, Sarah, additional, Hinks, Anne, additional, Hitman, Graham A., additional, Hocking, Lynne, additional, Holmes, Chris, additional, Howard, Eleanor, additional, Howard, Philip, additional, Howson, Joanna M.M., additional, Hughes, Debbie, additional, Hunt, Sarah, additional, Isaacs, John D., additional, Jain, Mahim, additional, Jewell, Derek P., additional, Johnson, Toby, additional, Jolley, Jennifer D., additional, Jones, Ian R., additional, Jones, Lisa A., additional, Kirov, George, additional, Langford, Cordelia F., additional, Lango-Allen, Hana, additional, Lathrop, G. Mark, additional, Lee, James, additional, Lee, Kate L., additional, Lees, Charlie, additional, Lewis, Kevin, additional, Lindgren, Cecilia M., additional, Maisuria-Armer, Meeta, additional, Maller, Julian, additional, Mansfield, John, additional, Marchini, Jonathan L., additional, Martin, Paul, additional, Massey, Dunecan C.O., additional, McArdle, Wendy L., additional, McGuffin, Peter, additional, McLay, Kirsten E., additional, McVean, Gil, additional, Mentzer, Alex, additional, Mimmack, Michael L., additional, Morgan, Ann E., additional, Morris, Andrew P., additional, Mowat, Craig, additional, Munroe, Patricia B., additional, Myers, Simon, additional, Newman, William, additional, Nimmo, Elaine R., additional, O’Donovan, Michael C., additional, Onipinla, Abiodun, additional, Ovington, Nigel R., additional, Owen, Michael J., additional, Palin, Kimmo, additional, Palotie, Aarno, additional, Parnell, Kirstie, additional, Pearson, Richard, additional, Pernet, David, additional, Perry, John R.B., additional, Phillips, Anne, additional, Plagnol, Vincent, additional, Prescott, Natalie J., additional, Prokopenko, Inga, additional, Quail, Michael A., additional, Rafelt, Suzanne, additional, Rayner, Nigel W., additional, Reid, David M., additional, Renwick, Anthony, additional, Ring, Susan M., additional, Robertson, Neil, additional, Robson, Samuel, additional, Russell, Ellie, additional, St Clair, David, additional, Sambrook, Jennifer G., additional, Sanderson, Jeremy D., additional, Sawcer, Stephen J., additional, Schuilenburg, Helen, additional, Scott, Carol E., additional, Scott, Richard, additional, Seal, Sheila, additional, Shaw-Hawkins, Sue, additional, Shields, Beverley M., additional, Simmonds, Matthew J., additional, Smyth, Debbie J., additional, Somaskantharajah, Elilan, additional, Spanova, Katarina, additional, Steer, Sophia, additional, Stephens, Jonathan, additional, Stevens, Helen E., additional, Stirrups, Kathy, additional, Stone, Millicent A., additional, Strachan, David P., additional, Su, Zhan, additional, Symmons, Deborah P.M., additional, Thompson, John R., additional, Thomson, Wendy, additional, Tobin, Martin D., additional, Travers, Mary E., additional, Turnbull, Clare, additional, Vukcevic, Damjan, additional, Wain, Louise V., additional, Walker, Mark, additional, Walker, Neil M., additional, Wallace, Chris, additional, Warren-Perry, Margaret, additional, Watkins, Nicholas A., additional, Webster, John, additional, Weedon, Michael N., additional, Wilson, Anthony G., additional, Woodburn, Matthew, additional, Wordsworth, B. Paul, additional, Yau, Chris, additional, Young, Allan H., additional, Zeggini, Eleftheria, additional, Brown, Matthew A., additional, Burton, Paul R., additional, Caulfield, Mark J., additional, Compston, Alastair, additional, Farrall, Martin, additional, Gough, Stephen C.L., additional, Hall, Alistair S., additional, Hattersley, Andrew T., additional, Hill, Adrian V.S., additional, Mathew, Christopher G., additional, Pembrey, Marcus, additional, Satsangi, Jack, additional, Stratton, Michael R., additional, Worthington, Jane, additional, Hurles, Matthew E., additional, Duncanson, Audrey, additional, Ouwehand, Willem H., additional, Parkes, Miles, additional, Rahman, Nazneen, additional, Todd, John A., additional, Samani, Nilesh J., additional, Kwiatkowski, Dominic P., additional, McCarthy, Mark I., additional, Craddock, Nick, additional, Deloukas, Panos, additional, Donnelly, Peter, additional, Blackwell, Jenefer M., additional, Bramon, Elvira, additional, Casas, Juan P., additional, Corvin, Aiden, additional, Jankowski, Janusz, additional, Markus, Hugh S., additional, Palmer, Colin N.A., additional, Plomin, Robert, additional, Rautanen, Anna, additional, Trembath, Richard C., additional, Viswanathan, Ananth C., additional, Wood, Nicholas W., additional, Spencer, Chris C.A., additional, Band, Gavin, additional, Bellenguez, Céline, additional, Freeman, Colin, additional, Hellenthal, Garrett, additional, Pirinen, Matti, additional, Strange, Amy, additional, Blackburn, Hannah, additional, Bumpstead, Suzannah J., additional, Dronov, Serge, additional, Gillman, Matthew, additional, Jayakumar, Alagurevathi, additional, McCann, Owen T., additional, Liddle, Jennifer, additional, Potter, Simon C., additional, Ravindrarajah, Radhi, additional, Ricketts, Michelle, additional, Waller, Matthew, additional, Weston, Paul, additional, Widaa, Sara, additional, and Whittaker, Pamela, additional

Published
2016
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40. Erratum: Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor

Author

Mahamdallie, Shazia S, primary, Hanks, Sandra, additional, Karlin, Kristen L, additional, Zachariou, Anna, additional, Perdeaux, Elizabeth R, additional, Ruark, Elise, additional, Shaw, Chad A, additional, Renwick, Alexander, additional, Ramsay, Emma, additional, Yost, Shawn, additional, Elliott, Anna, additional, Birch, Jillian, additional, Capra, Michael, additional, Gray, Juliet, additional, Hale, Juliet, additional, Kingston, Judith, additional, Levitt, Gill, additional, McLean, Thomas, additional, Sheridan, Eamonn, additional, Renwick, Anthony, additional, Seal, Sheila, additional, Stiller, Charles, additional, Sebire, Neil, additional, Westbrook, Thomas F, additional, and Rahman, Nazneen, additional

Published
2016
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42. Mutations in the transcriptional repressor REST predispose to Wilms tumor

Author

Mahamdallie, Shazia S, primary, Hanks, Sandra, additional, Karlin, Kristen L, additional, Zachariou, Anna, additional, R Perdeaux, Elizabeth, additional, Ruark, Elise, additional, Shaw, Chad A, additional, Renwick, Alexander, additional, Ramsay, Emma, additional, Yost, Shawn, additional, Elliott, Anna, additional, Birch, Jillian, additional, Capra, Michael, additional, Gray, Juliet, additional, Hale, Juliet, additional, Kingston, Judith, additional, Levitt, Gill, additional, McLean, Thomas, additional, Sheridan, Eamonn, additional, Renwick, Anthony, additional, Seal, Sheila, additional, Stiller, Charles, additional, Sebire, Neil, additional, Westbrook, Thomas F, additional, and Rahman, Nazneen, additional

Published
2015
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45. Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Author

Mavaddat, Nasim, primary, Pharoah, Paul D. P., additional, Michailidou, Kyriaki, additional, Tyrer, Jonathan, additional, Brook, Mark N., additional, Bolla, Manjeet K., additional, Wang, Qin, additional, Dennis, Joe, additional, Dunning, Alison M., additional, Shah, Mitul, additional, Luben, Robert, additional, Brown, Judith, additional, Bojesen, Stig E., additional, Nordestgaard, Børge G., additional, Nielsen, Sune F., additional, Flyger, Henrik, additional, Czene, Kamila, additional, Darabi, Hatef, additional, Eriksson, Mikael, additional, Peto, Julian, additional, dos-Santos-Silva, Isabel, additional, Dudbridge, Frank, additional, Johnson, Nichola, additional, Schmidt, Marjanka K., additional, Broeks, Annegien, additional, Verhoef, Senno, additional, Rutgers, Emiel J., additional, Swerdlow, Anthony, additional, Ashworth, Alan, additional, Orr, Nick, additional, Schoemaker, Minouk J., additional, Figueroa, Jonine, additional, Chanock, Stephen J., additional, Brinton, Louise, additional, Lissowska, Jolanta, additional, Couch, Fergus J., additional, Olson, Janet E., additional, Vachon, Celine, additional, Pankratz, Vernon S., additional, Lambrechts, Diether, additional, Wildiers, Hans, additional, Van Ongeval, Chantal, additional, van Limbergen, Erik, additional, Kristensen, Vessela, additional, Grenaker Alnæs, Grethe, additional, Nord, Silje, additional, Borresen-Dale, Anne-Lise, additional, Nevanlinna, Heli, additional, Muranen, Taru A., additional, Aittomäki, Kristiina, additional, Blomqvist, Carl, additional, Chang-Claude, Jenny, additional, Rudolph, Anja, additional, Seibold, Petra, additional, Flesch-Janys, Dieter, additional, Fasching, Peter A., additional, Haeberle, Lothar, additional, Ekici, Arif B., additional, Beckmann, Matthias W., additional, Burwinkel, Barbara, additional, Marme, Frederik, additional, Schneeweiss, Andreas, additional, Sohn, Christof, additional, Trentham-Dietz, Amy, additional, Newcomb, Polly, additional, Titus, Linda, additional, Egan, Kathleen M., additional, Hunter, David J., additional, Lindstrom, Sara, additional, Tamimi, Rulla M., additional, Kraft, Peter, additional, Rahman, Nazneen, additional, Turnbull, Clare, additional, Renwick, Anthony, additional, Seal, Sheila, additional, Li, Jingmei, additional, Liu, Jianjun, additional, Humphreys, Keith, additional, Benitez, Javier, additional, Pilar Zamora, M., additional, Arias Perez, Jose Ignacio, additional, Menéndez, Primitiva, additional, Jakubowska, Anna, additional, Lubinski, Jan, additional, Jaworska-Bieniek, Katarzyna, additional, Durda, Katarzyna, additional, Bogdanova, Natalia V., additional, Antonenkova, Natalia N., additional, Dörk, Thilo, additional, Anton-Culver, Hoda, additional, Neuhausen, Susan L., additional, Ziogas, Argyrios, additional, Bernstein, Leslie, additional, Devilee, Peter, additional, Tollenaar, Robert A. E. M., additional, Seynaeve, Caroline, additional, van Asperen, Christi J., additional, Cox, Angela, additional, Cross, Simon S., additional, Reed, Malcolm W. R., additional, Khusnutdinova, Elza, additional, Bermisheva, Marina, additional, Prokofyeva, Darya, additional, Takhirova, Zalina, additional, Meindl, Alfons, additional, Schmutzler, Rita K., additional, Sutter, Christian, additional, Yang, Rongxi, additional, Schürmann, Peter, additional, Bremer, Michael, additional, Christiansen, Hans, additional, Park-Simon, Tjoung-Won, additional, Hillemanns, Peter, additional, Guénel, Pascal, additional, Truong, Thérèse, additional, Menegaux, Florence, additional, Sanchez, Marie, additional, Radice, Paolo, additional, Peterlongo, Paolo, additional, Manoukian, Siranoush, additional, Pensotti, Valeria, additional, Hopper, John L., additional, Tsimiklis, Helen, additional, Apicella, Carmel, additional, Southey, Melissa C., additional, Brauch, Hiltrud, additional, Brüning, Thomas, additional, Ko, Yon-Dschun, additional, Sigurdson, Alice J., additional, Doody, Michele M., additional, Hamann, Ute, additional, Torres, Diana, additional, Ulmer, Hans-Ulrich, additional, Försti, Asta, additional, Sawyer, Elinor J., additional, Tomlinson, Ian, additional, Kerin, Michael J., additional, Miller, Nicola, additional, Andrulis, Irene L., additional, Knight, Julia A., additional, Glendon, Gord, additional, Marie Mulligan, Anna, additional, Chenevix-Trench, Georgia, additional, Balleine, Rosemary, additional, Giles, Graham G., additional, Milne, Roger L., additional, McLean, Catriona, additional, Lindblom, Annika, additional, Margolin, Sara, additional, Haiman, Christopher A., additional, Henderson, Brian E., additional, Schumacher, Fredrick, additional, Le Marchand, Loic, additional, Eilber, Ursula, additional, Wang-Gohrke, Shan, additional, Hooning, Maartje J., additional, Hollestelle, Antoinette, additional, van den Ouweland, Ans M. W., additional, Koppert, Linetta B., additional, Carpenter, Jane, additional, Clarke, Christine, additional, Scott, Rodney, additional, Mannermaa, Arto, additional, Kataja, Vesa, additional, Kosma, Veli-Matti, additional, Hartikainen, Jaana M., additional, Brenner, Hermann, additional, Arndt, Volker, additional, Stegmaier, Christa, additional, Karina Dieffenbach, Aida, additional, Winqvist, Robert, additional, Pylkäs, Katri, additional, Jukkola-Vuorinen, Arja, additional, Grip, Mervi, additional, Offit, Kenneth, additional, Vijai, Joseph, additional, Robson, Mark, additional, Rau-Murthy, Rohini, additional, Dwek, Miriam, additional, Swann, Ruth, additional, Annie Perkins, Katherine, additional, Goldberg, Mark S., additional, Labrèche, France, additional, Dumont, Martine, additional, Eccles, Diana M., additional, Tapper, William J., additional, Rafiq, Sajjad, additional, John, Esther M., additional, Whittemore, Alice S., additional, Slager, Susan, additional, Yannoukakos, Drakoulis, additional, Toland, Amanda E., additional, Yao, Song, additional, Zheng, Wei, additional, Halverson, Sandra L., additional, González-Neira, Anna, additional, Pita, Guillermo, additional, Rosario Alonso, M., additional, Álvarez, Nuria, additional, Herrero, Daniel, additional, Tessier, Daniel C., additional, Vincent, Daniel, additional, Bacot, Francois, additional, Luccarini, Craig, additional, Baynes, Caroline, additional, Ahmed, Shahana, additional, Maranian, Mel, additional, Healey, Catherine S., additional, Simard, Jacques, additional, Hall, Per, additional, Easton, Douglas F., additional, and Garcia-Closas, Montserrat, additional

Published
2015
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47. Breast cancer risk and 6q22.33:combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Author

Kirchhoff, Tomas, Gaudet, Mia M, Antoniou, Antonis C, McGuffog, Lesley, Humphreys, Manjeet K, Dunning, Alison M, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schürmann, Peter, Karstens, Johann H, Hillemanns, Peter, Couch, Fergus J, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm W R, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, Schmidt, Marjanka K, Van 't Veer, Laura J, Braaf, Linde M, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, Southey, Melissa C, Hopper, John L, Hammet, Fleur, Van Dorpe, Thijs, Kirchhoff, Tomas, Gaudet, Mia M, Antoniou, Antonis C, McGuffog, Lesley, Humphreys, Manjeet K, Dunning, Alison M, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schürmann, Peter, Karstens, Johann H, Hillemanns, Peter, Couch, Fergus J, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm W R, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, Schmidt, Marjanka K, Van 't Veer, Laura J, Braaf, Linde M, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, Southey, Melissa C, Hopper, John L, Hammet, Fleur, and Van Dorpe, Thijs

Abstract

Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p =

Published
2012

48. Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor-Positive, Lower Grade Breast Cancer

Author

Milne, Roger L., Goode, Ellen L., Garca-Closas, Montserrat, Couch, Fergus J., Severi, Gianluca, Hein, Rebecca, Fredericksen, Zachary, Malats, Nuria, Pilar Zamora, M., Arias Perez, Jose Ignacio, Benitez, Javier, Doerk, Thilo, Schuermann, Peter, Karstens, Johann H., Hillemanns, Peter, Cox, Angela, Brock, Ian W., Elliot, Graeme, Cross, Simon S., Seal, Sheila, Turnbull, Clare, Renwick, Anthony, Rahman, Nazneen, Shen, Chen-Yang, Yu, Jyh-Cherng, Huang, Chiun-Sheng, Hou, Ming-Feng, Nordestgaard, Borge G., Bojesen, Stig E., Lanng, Charlotte, Alnaes, Grethe Grenaker, Kristensen, Vessela, Borrensen-Dale, Anne-Lise, Hopper, John L., Dite, Gillian S., Apicella, Carmel, Southey, Melissa C., Lambrechts, Diether, Yesilyurt, Betul T., Floris, Giuseppe, Leunen, Karin, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, McKay, James, Chang-Claude, Jenny, Wang-Gohrke, Shan, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Giles, Graham G., Baglietto, Laura, John, Esther M., Miron, Alexander, Chanock, Stephen J., Lissowska, Jolanta, Sherman, Mark E., Figueroa, Jonine D., Bogdanova, Natalia V., Antonenkova, Natalia N., Zalutsky, Iosif V., Rogov, Yuri I., Fasching, Peter A., Bayer, Christian M., Ekici, Arif B., Beckmann, Matthias W., Brenner, Hermann, Mueller, Heiko, Arndt, Volker, Stegmaier, Christa, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Meindl, Alfons, Heil, Joerg, Bartram, Claus R., Schmutzler, Rita K., Thomas, Gilles D., Hoover, Robert N., Fletcher, Olivia, Gibson, Lorna J., Silva, Isabel dos Santos, Peto, Julian, Nickels, Stefan, Flesch-Janys, Dieter, Anton-Culver, Hoda, Ziogas, Argyrios, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Tollenaar, Rob A. E. M., Pharoah, Paul D. P., Dunning, Alison M., Pooley, Karen A., Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Hunter, David J., Hankinson, Susan E., Kraft, Peter, Lindstrom, Sara, Chen, Xiaoqing, Beesley, Jonathan, Hamann, Ute, Harth, Volker, Justenhoven, Christina, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Hooning, Maartje, Hollestelle, Antoinette, Oldenburg, Rogier A., Tilanus-Linthorst, Madeleine, Khusnutdinova, Elza, Bermisheva, Marina, Prokofieva, Darya, Farahtdinova, Albina, Olson, Janet E., Wang, Xianshu, Humphreys, Manjeet K., Wang, Qin, Chenevix-Trench, Georgia, Easton, Douglas F., Milne, Roger L., Goode, Ellen L., Garca-Closas, Montserrat, Couch, Fergus J., Severi, Gianluca, Hein, Rebecca, Fredericksen, Zachary, Malats, Nuria, Pilar Zamora, M., Arias Perez, Jose Ignacio, Benitez, Javier, Doerk, Thilo, Schuermann, Peter, Karstens, Johann H., Hillemanns, Peter, Cox, Angela, Brock, Ian W., Elliot, Graeme, Cross, Simon S., Seal, Sheila, Turnbull, Clare, Renwick, Anthony, Rahman, Nazneen, Shen, Chen-Yang, Yu, Jyh-Cherng, Huang, Chiun-Sheng, Hou, Ming-Feng, Nordestgaard, Borge G., Bojesen, Stig E., Lanng, Charlotte, Alnaes, Grethe Grenaker, Kristensen, Vessela, Borrensen-Dale, Anne-Lise, Hopper, John L., Dite, Gillian S., Apicella, Carmel, Southey, Melissa C., Lambrechts, Diether, Yesilyurt, Betul T., Floris, Giuseppe, Leunen, Karin, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, McKay, James, Chang-Claude, Jenny, Wang-Gohrke, Shan, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Giles, Graham G., Baglietto, Laura, John, Esther M., Miron, Alexander, Chanock, Stephen J., Lissowska, Jolanta, Sherman, Mark E., Figueroa, Jonine D., Bogdanova, Natalia V., Antonenkova, Natalia N., Zalutsky, Iosif V., Rogov, Yuri I., Fasching, Peter A., Bayer, Christian M., Ekici, Arif B., Beckmann, Matthias W., Brenner, Hermann, Mueller, Heiko, Arndt, Volker, Stegmaier, Christa, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Meindl, Alfons, Heil, Joerg, Bartram, Claus R., Schmutzler, Rita K., Thomas, Gilles D., Hoover, Robert N., Fletcher, Olivia, Gibson, Lorna J., Silva, Isabel dos Santos, Peto, Julian, Nickels, Stefan, Flesch-Janys, Dieter, Anton-Culver, Hoda, Ziogas, Argyrios, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Tollenaar, Rob A. E. M., Pharoah, Paul D. P., Dunning, Alison M., Pooley, Karen A., Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Hunter, David J., Hankinson, Susan E., Kraft, Peter, Lindstrom, Sara, Chen, Xiaoqing, Beesley, Jonathan, Hamann, Ute, Harth, Volker, Justenhoven, Christina, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Hooning, Maartje, Hollestelle, Antoinette, Oldenburg, Rogier A., Tilanus-Linthorst, Madeleine, Khusnutdinova, Elza, Bermisheva, Marina, Prokofieva, Darya, Farahtdinova, Albina, Olson, Janet E., Wang, Xianshu, Humphreys, Manjeet K., Wang, Qin, Chenevix-Trench, Georgia, and Easton, Douglas F.

Abstract

Background: The single-nucleotide polymorphism (SNP) 5p12-rs10941679 has been found to be associated with risk of breast cancer, particularly estrogen receptor (ER)-positive disease. We aimed to further explore this association overall, and by tumor histopathology, in the Breast Cancer Association Consortium. Methods: Data were combined from 37 studies, including 40,972 invasive cases, 1,398 cases of ductal carcinoma in situ (DCIS), and 46,334 controls, all of white European ancestry, as well as 3,007 invasive cases and 2,337 controls of Asian ancestry. Associations overall and by tumor invasiveness and histopathology were assessed using logistic regression. Results: For white Europeans, the per-allele OR associated with 5p12-rs10941679 was 1.11 (95% CI = 1.08-1.14, P = 7 x 10(-18)) for invasive breast cancer and 1.10 (95% CI = 1.01-1.21, P = 0.03) for DCIS. For Asian women, the estimated OR for invasive disease was similar (OR 1.07, 95% CI = 0.99-1.15, P = 0.09). Further analyses suggested that the association in white Europeans was largely limited to progesterone receptor (PR)positive disease (per-allele OR = 1.16, 95% CI = 1.12-1.20, P = 1 x 10(-18) vs. OR = 1.03, 95% CI = 0.99-1.07, P = 0.2 for PR-negative disease; P-heterogeneity 2 x 10(-7)); heterogeneity by ER status was not observed (P = 0.2) once PR status was accounted for. The association was also stronger for lower grade tumors [per-allele OR (95% CI) 1.20 (1.14-1.25), 1.13 (1.09-1.16), and 1.04 (0.99-1.08) for grade 1, 2, and 3/4, respectively; Ptrend 5 x 10(-7)]. Conclusion: 5p12 is a breast cancer susceptibility locus for PR-positive, lower grade breast cancer. Impact: Multicenter fine-mapping studies of this region are needed as a first step to identifying the causal variant or variants. Cancer Epidemiol Biomarkers Prev; 20(10); 2222-31. (C) 2011 AACR.

Published
2011

49. Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype:findings from the Breast Cancer Association Consortium

Author

Figueroa, Jonine D, Garcia-Closas, Montserrat, Humphreys, Manjeet, Platte, Radka, Hopper, John L, Southey, Melissa C, Apicella, Carmel, Hammet, Fleur, Schmidt, Marjanka K, Broeks, Annegien, Tollenaar, Rob A E M, Van't Veer, Laura J, Fasching, Peter A, Beckmann, Matthias W, Ekici, Arif B, Strick, Reiner, Peto, Julian, dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Burwinkel, Barbara, Marme, Federik, Schneeweiss, Andreas, Sohn, Christof, Bojesen, Stig, Flyger, Henrik, Nordestgaard, Børge G, Benítez, Javier, Milne, Roger L, Ignacio Arias, Jose, Zamora, M Pilar, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Rahman, Nazneen, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Brauch, Hiltrud, Justenhoven, Christina, Brüning, Thomas, Chang-Claude, Jenny, Hein, Rebecca, Wang-Gohrke, Shan, Dörk, Thilo, Schürmann, Peter, Bremer, Michael, Figueroa, Jonine D, Garcia-Closas, Montserrat, Humphreys, Manjeet, Platte, Radka, Hopper, John L, Southey, Melissa C, Apicella, Carmel, Hammet, Fleur, Schmidt, Marjanka K, Broeks, Annegien, Tollenaar, Rob A E M, Van't Veer, Laura J, Fasching, Peter A, Beckmann, Matthias W, Ekici, Arif B, Strick, Reiner, Peto, Julian, dos Santos Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Burwinkel, Barbara, Marme, Federik, Schneeweiss, Andreas, Sohn, Christof, Bojesen, Stig, Flyger, Henrik, Nordestgaard, Børge G, Benítez, Javier, Milne, Roger L, Ignacio Arias, Jose, Zamora, M Pilar, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Rahman, Nazneen, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Brauch, Hiltrud, Justenhoven, Christina, Brüning, Thomas, Chang-Claude, Jenny, Hein, Rebecca, Wang-Gohrke, Shan, Dörk, Thilo, Schürmann, Peter, and Bremer, Michael

Abstract

A genome-wide association study (GWAS) identified single-nucleotide polymorphisms (SNPs) at 1p11.2 and 14q24.1 (RAD51L1) as breast cancer susceptibility loci. The initial GWAS suggested stronger effects for both loci for estrogen receptor (ER)-positive tumors. Using data from the Breast Cancer Association Consortium (BCAC), we sought to determine whether risks differ by ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2), grade, node status, tumor size, and ductal or lobular morphology. We genotyped rs11249433 at 1p.11.2, and two highly correlated SNPs rs999737 and rs10483813 (r(2)= 0.98) at 14q24.1 (RAD51L1), for up to 46 036 invasive breast cancer cases and 46 930 controls from 39 studies. Analyses by tumor characteristics focused on subjects reporting to be white women of European ancestry and were based on 25 458 cases, of which 87% had ER data. The SNP at 1p11.2 showed significantly stronger associations with ER-positive tumors [per-allele odds ratio (OR) for ER-positive tumors was 1.13, 95% CI = 1.10-1.16 and, for ER-negative tumors, OR was 1.03, 95% CI = 0.98-1.07, case-only P-heterogeneity = 7.6 × 10(-5)]. The association with ER-positive tumors was stronger for tumors of lower grade (case-only P= 6.7 × 10(-3)) and lobular histology (case-only P= 0.01). SNPs at 14q24.1 were associated with risk for most tumor subtypes evaluated, including triple-negative breast cancers, which has not been described previously. Our results underscore the need for large pooling efforts with tumor pathology data to help refine risk estimates for SNP associations with susceptibility to different subtypes of breast cancer.

Published
2011

50. Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor-Positive, Lower Grade Breast Cancer

Author

Milne, Roger L, Goode, Ellen L, García-Closas, Montserrat, Couch, Fergus J, Severi, Gianluca, Hein, Rebecca, Fredericksen, Zachary, Malats, Núria, Zamora, M Pilar, Pérez, Jose Ignacio Arias, Benítez, Javier, Dörk, Thilo, Schürmann, Peter, Karstens, Johann H, Hillemanns, Peter, Cox, Angela, Brock, Ian W, Elliot, Graeme, Cross, Simon S, Seal, Sheila, Turnbull, Clare, Renwick, Anthony, Rahman, Nazneen, Shen, Chen-Yang, Yu, Jyh-Cherng, Huang, Chiun-Sheng, Hou, Ming-Feng, Nordestgaard, Børge G, Bojesen, Stig E, Lanng, Charlotte, Alnæs, Grethe Grenaker, Kristensen, Vessela, Børrensen-Dale, Anne-Lise, Hopper, John L, Dite, Gillian S, Apicella, Carmel, Southey, Melissa C, Lambrechts, Diether, Yesilyurt, Betül T, Floris, Giuseppe, Leunen, Karin, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, McKay, James, Chang-Claude, Jenny, Wang-Gohrke, Shan, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Milne, Roger L, Goode, Ellen L, García-Closas, Montserrat, Couch, Fergus J, Severi, Gianluca, Hein, Rebecca, Fredericksen, Zachary, Malats, Núria, Zamora, M Pilar, Pérez, Jose Ignacio Arias, Benítez, Javier, Dörk, Thilo, Schürmann, Peter, Karstens, Johann H, Hillemanns, Peter, Cox, Angela, Brock, Ian W, Elliot, Graeme, Cross, Simon S, Seal, Sheila, Turnbull, Clare, Renwick, Anthony, Rahman, Nazneen, Shen, Chen-Yang, Yu, Jyh-Cherng, Huang, Chiun-Sheng, Hou, Ming-Feng, Nordestgaard, Børge G, Bojesen, Stig E, Lanng, Charlotte, Alnæs, Grethe Grenaker, Kristensen, Vessela, Børrensen-Dale, Anne-Lise, Hopper, John L, Dite, Gillian S, Apicella, Carmel, Southey, Melissa C, Lambrechts, Diether, Yesilyurt, Betül T, Floris, Giuseppe, Leunen, Karin, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, McKay, James, Chang-Claude, Jenny, Wang-Gohrke, Shan, Radice, Paolo, Peterlongo, Paolo, and Manoukian, Siranoush

Abstract

BACKGROUND: The single-nucleotide polymorphism (SNP) 5p12-rs10941679 has been found to be associated with risk of breast cancer, particularly estrogen receptor (ER)-positive disease. We aimed to further explore this association overall, and by tumor histopathology, in the Breast Cancer Association Consortium. METHODS: Data were combined from 37 studies, including 40,972 invasive cases, 1,398 cases of ductal carcinoma in situ (DCIS), and 46,334 controls, all of white European ancestry, as well as 3,007 invasive cases and 2,337 controls of Asian ancestry. Associations overall and by tumor invasiveness and histopathology were assessed using logistic regression. RESULTS: For white Europeans, the per-allele OR associated with 5p12-rs10941679 was 1.11 (95% CI = 1.08-1.14, P = 7 × 10(-18)) for invasive breast cancer and 1.10 (95% CI = 1.01-1.21, P = 0.03) for DCIS. For Asian women, the estimated OR for invasive disease was similar (OR = 1.07, 95%CI = 0.99-1.15, P = 0.09). Further analyses suggested that the association in white Europeans was largely limited to progesterone receptor (PR)-positive disease (per-allele OR = 1.16, 95% CI = 1.12-1.20, P = 1 × 10(-18) vs. OR = 1.03, 95% CI = 0.99-1.07, P = 0.2 for PR-negative disease; P(heterogeneity) = 2 × 10(-7)); heterogeneity by ER status was not observed (P = 0.2) once PR status was accounted for. The association was also stronger for lower grade tumors [per-allele OR (95% CI) = 1.20 (1.14-1.25), 1.13 (1.09-1.16), and 1.04 (0.99-1.08) for grade 1, 2, and 3/4, respectively; P(trend) = 5 × 10(-7)]. CONCLUSION: 5p12 is a breast cancer susceptibility locus for PR-positive, lower grade breast cancer. Impact: Multicenter fine-mapping studies of this region are needed as a first step to identifying the causal variant or variants. Cancer Epidemiol Biomarkers Prev; 20(10); 2222-31. ©2011 AACR.

Published
2011

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