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10 results on '"Gerald L, Andriole"'

1. Smoking Is Associated With Basal Cell Hyperplasia on Prostate Biopsy Specimens

Author

Daniel Melecchi Freitas, Brasil S Neto, Gerald L. Andriole, Daniel M. Moreira, and Stephen J. Freedland

Subjects
Male, medicine.medical_specialty, Prostate biopsy, Biopsy, Prostatic Hyperplasia, 030232 urology & nephrology, Logistic regression, Basal Cell Hyperplasia, Cigarette Smoking, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Prostate, Internal medicine, medicine, Animals, Humans, Aged, Retrospective Studies, Hyperplasia, medicine.diagnostic_test, business.industry, General Medicine, Odds ratio, Middle Aged, Former Smoker, Confidence interval, medicine.anatomical_structure, 030220 oncology & carcinogenesis, business
Abstract

Objectives To the best of our knowledge, no study has analyzed the association between cigarette smoking and prostate basal cell proliferation. Therefore, we sought to evaluate whether smoking status is associated with the presence of basal cell hyperplasia (BCH). Methods We performed a retrospective analysis of 8,196 men aged 50 to 75 years with prostate-specific antigen values between 2.5 µg/mL and 10 µg/mL and prior negative biopsy who were enrolled in the (REDUCE) trial. Cigarette smoking status was divided into current, former, or never categories at enrollment. The association between smoking and baseline BCH was evaluated, with logistic regression in univariable and multivariable analysis. Results A total of 1,233 (15.1%) men were current smokers, 3,206 (39.1%) were former smokers, and 3,575 (45.8%) were never smokers. In univariable analysis, current smoking was associated with higher baseline BCH occurrence compared with never (odds ratio [OR], 1.87; 95% confidence interval [CI], 1.14-3.10) and former smokers (OR, 1.77; 95% CI, 1.06-2.95). Similar results were found after adjusting for patient characteristics (current vs never smokers: OR, 1.92; 95% CI, 1.14-3.26; current vs former smokers: OR, 1.71; 95% CI, 1.01-2.91). Conclusions Among men undergoing prostate biopsy, all of whom had a negative biopsy result, current smoking at enrollment was independently associated with BCH in standard peripheral zone prostate biopsies.

Published
2021

3. Overdiagnosis of Prostate Cancer

Author

Gerald L. Andriole and Gurdarshan S. Sandhu

Subjects
Male, Oncology, Cancer Research, medicine.medical_specialty, Article, Prostate cancer, 5-alpha Reductase Inhibitors, Prostate, Internal medicine, Epidemiology of cancer, medicine, Humans, Survivors, Overdiagnosis, Watchful Waiting, Early Detection of Cancer, Digital Rectal Examination, medicine.diagnostic_test, business.industry, Prostatic Neoplasms, Cancer, General Medicine, Rectal examination, Prostate-Specific Antigen, medicine.disease, Prostate-specific antigen, Standardized mortality ratio, medicine.anatomical_structure, business
Abstract

This chapter addresses issues relevant to prostate cancer overdiagnosis. Factors promoting the overdiagnosis of prostate cancer are reviewed. First is the existence of a relatively large, silent reservoir of this disease, as can be seen by evaluating autopsy studies and histologic step-sectioning results of prostates removed for other causes. The second main factor responsible for prostate cancer overdiagnosis is fairly widespread prostate-specific antigen and digital rectal examination-based screening, which has been fairly widely practiced in the United States for the past 20 years among heterogeneous groups of men. This has resulted in the identification of many men from this reservoir who otherwise may never have been diagnosed with symptomatic prostate cancer and is substantially responsible for the current annual incidence to mortality ratio for prostate cancer of approximately 6 to 1. Finally, the relatively indolent natural history and limited cancer-specific mortality as reported in a variety of contemporary randomized screening and treatment trials is reviewed. We attempt to quantitate the proportion of newly diagnosed prostate cancers that are overdiagnosed using various trial results and models. We explore the impact of prostate cancer overdiagnosis in terms of patient anxiety and the potential for overtreatment, with its attendant morbidity. We explore strategies to minimize overdiagnosis by targeting screening and biopsy only to men at high risk for aggressive prostate cancer and by considering the use of agents such as 5-alpha reductase inhibitors. Future prospects to prevent overtreatment, including better biopsy and molecular characterization of newly diagnosed cancer and the role of active surveillance, are discussed.

Published
2012

4. Flexible Sigmoidoscopy in the Randomized Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial: Added Yield from a Second Screening Examination

Author

Douglas J. Reding, V. Paul Doria-Rose, Lois Lamerato, Robert S. Bresalier, Mona N. Fouad, Saundra S. Buys, E. David Crawford, Lance A. Yokochi, Susan Yurgalevitch, Timothy R. Church, Robert E. Schoen, Joel L. Weissfeld, Joshua M. Rathmell, Gerald L. Andriole, Christine D. Berg, Claudine Isaacs, Paul F. Pinsky, Philip C. Prorok, and Adeyinka O. Laiyemo

Subjects
Oncology, Cancer Research, medicine.medical_specialty, Lung, medicine.diagnostic_test, business.industry, Colorectal cancer, Cancer, Sigmoidoscopy, medicine.disease, Screening Examination, law.invention, medicine.anatomical_structure, Randomized controlled trial, Prostate, law, Internal medicine, Cancer screening, Medicine, business
Abstract

Background Among randomized trials evaluating flexible sigmoidoscopy (FSG) for its effect on colorectal cancer mortality, only the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial screened its participants more than one time. We report outcomes from the PLCO screening FSG program and evaluate the increased yield produced by a second FSG.

Published
2012

5. A genome-wide association study of bladder cancer identifies a new susceptibility locus within SLC14A1, a urea transporter gene on chromosome 18q12.3

Author

Mark P. Purdue, Margaret R. Karagas, Seth P. Lerner, Joseph F. Fraumeni, W. Ryan Diver, Jie Lin, Alison Johnson, Colin P.N. Dinney, Josep Lloreta, Debra T. Silverman, Francisco X. Real, Núria Malats, Amanda Black, Immaculata De Vivo, Xia Pu, Molly Schwenn, Gerald L. Andriole, Meredith Yeager, Stephanie J. Weinstein, Reina Garcia-Closas, Laurie Burdett, Jian Gu, Alfredo Carrato, H. Barton Grossman, Neil E. Caporaso, Dalsu Baris, Jarmo Virtamo, Montserrat Garcia-Closas, Consol Serra, Stephen J. Chanock, Xifeng Wu, Yuanqing Ye, Yi-Ping Fu, Alan R. Schned, Michael J. Thun, Adonina Tardón, Zhaoming Wang, Manolis Kogevinas, Ludmila Prokunina-Olsson, Robert L. Grubb, Amy Hutchinson, Maria Teresa Landi, Susan M. Gapstur, Eric J. Jacobs, Demetrius Albanes, Kevin B. Jacobs, Nilanjan Chatterjee, David J. Hunter, Ashish M. Kamat, Wei Tang, Nathaniel Rothman, and Jonine D. Figueroa

Subjects
Linkage disequilibrium, Urea transporter, Single-nucleotide polymorphism, Genome-wide association study, Polymorphism, Single Nucleotide, Linkage Disequilibrium, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Genetics, Humans, Genetic Predisposition to Disease, Allele, Molecular Biology, Genetics (clinical), 030304 developmental biology, Genetic association, 0303 health sciences, biology, Association Studies Articles, Membrane Transport Proteins, General Medicine, Odds ratio, Molecular biology, 3. Good health, Solute carrier family, Urinary Bladder Neoplasms, Genetic Loci, 030220 oncology & carcinogenesis, biology.protein, Chromosomes, Human, Pair 18, Genome-Wide Association Study
Abstract

Genome-wide and candidate-gene association studies of bladder cancer have identified 10 susceptibility loci thus far. We conducted a meta-analysis of two previously published genome-wide scans (4501 cases and 6076 controls of European background) and followed up the most significant association signals [17 single nucleotide polymorphisms (SNPs) in 10 genomic regions] in 1382 cases and 2201 controls from four studies. A combined analysis adjusted for study center, age, sex, and smoking status identified a novel susceptibility locus that mapped to a region of 18q12.3, marked by rs7238033 (P = 8.7 x 10(-9); allelic odds ratio 1.20 with 95% CI: 1.13-1.28) and two highly correlated SNPs, rs10775480/rs10853535 (r(2) = 1.00; P = 8.9 x 10(-9); allelic odds ratio 1.16 with 95% CI: 1.10-1.22). The signal localizes to the solute carrier family 14 member 1 gene, SLC14A1, a urea transporter that regulates cellular osmotic pressure. In the kidney, SLC14A1 regulates urine volume and concentration whereas in erythrocytes it determines the Kidd blood groups. Our findings suggest that genetic variation in SLC14A1 could provide new etiological insights into bladder carcinogenesis.

Published
2011

6. Fine mapping of a region of chromosome 11q13 reveals multiple independent loci associated with risk of prostate cancer

Author

Geraldine Cancel-Tassin, W. Ryan Diver, Laurence N. Kolonel, Nilanjan Chatterjee, Jarmo Virtamo, Quan Chen, Richard B. Hayes, Joseph F. Fraumeni, Olivier Cussenot, Brian E. Henderson, Amy Hutchinson, Elio Riboli, Charles C. Chung, Daniela S. Gerhard, David J. Hunter, Christopher A. Haiman, Gilles Thomas, Rudolf Kaaks, Nick Orr, Loic Le Marchand, Stephanie J. Weinstein, William B. Isaacs, Sonja I. Berndt, Julia Ciampa, E. David Crawford, Lars J. Vatten, Stephen J. Chanock, Peter Kraft, Inger Njølstad, Afshan Siddiq, Kevin B. Jacobs, Gerald L. Andriole, Heather Spencer Feigelson, Sarah D. Isaacs, Sholom Wacholder, Jesus Gonzalez-Bosquet, Timothy J. Key, Meredith Yeager, Henrik Grönberg, Margaret A. Tucker, Demetrius Albanes, Robert N. Hoover, Fredrik Wiklund, Antoine Valeri, Jianfeng Xu, Kai Yu, Kristian Hveem, Michael J. Thun, Fredrick R. Schumacher, Joseph Boland, Clinical Genetics Branch, Division of Cancer Epidemiology & Genetics, National Institutes of Health [Bethesda] (NIH)-National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH), Department of Epidemiology, Harvard School of Public Health, institute for health research, Division of Cancer Epidemiology and Genetics, National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH)-National Institutes of Health [Bethesda] (NIH), Department of Chronic Disease Prevention, National Institute for Health and Welfare [Helsinki], Centre de Recherche pour les Pathologies Prostatiques. (CeRePP / UA 3104), CEREPP, Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Service d'urologie, Université de Brest (UBO)-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), University of Hawai‘i [Mānoa] (UHM), Department of Genomics of Common Disease, Imperial College London-School of public health, The University of Hong Kong (HKU)-The University of Hong Kong (HKU), Department of Epidemiology and Biostatistics, Imperial College London-Faculty of Medicine-School of public health, Department of Epidemiology and Public Health, Imperial College London, Radcliffe Infirmary, Cancer Research UK, Cancer Research UK Epidemiology Unit, University of Oxford [Oxford], Division of Cancer Epidemiology, German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Department of Medical Epidemiology and Biostatistics (MEB), Karolinska Institutet [Stockholm], DURHAM, Durham, Equipe 6, Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Division of Cancer Epidemiology and Genetics, National Institutes of Health [Bethesda] (NIH)-National Institutes of Health [Bethesda] (NIH)-National Cancer Institute [Bethesda] (NCI-NIH), Pediatric Oncology Branch, University of Oxford, and Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, Linkage disequilibrium, Recombination hotspot, [SDV.CAN]Life Sciences [q-bio]/Cancer, Single-nucleotide polymorphism, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, MESH: Genetic Loci, Linkage Disequilibrium, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, MESH: Risk Factors, Genetics, Humans, Genetic Predisposition to Disease, International HapMap Project, Molecular Biology, Genetics (clinical), 030304 developmental biology, Genetic association, 0303 health sciences, MESH: Humans, Chromosomes, Human, Pair 11, MESH: Polymorphism, Single Nucleotide, Association Studies Articles, MESH: Genetic Predisposition to Disease, Chromosome Mapping, Prostatic Neoplasms, General Medicine, MESH: Case-Control Studies, MESH: Male, 3. Good health, MESH: Linkage Disequilibrium, Genetic Loci, Genetic marker, Case-Control Studies, MESH: Prostatic Neoplasms, 030220 oncology & carcinogenesis, MESH: Genome-Wide Association Study, Multiple comparisons problem, MESH: Chromosomes, Human, Pair 11, MESH: Chromosome Mapping, Genome-Wide Association Study
Abstract

International audience; Genome-wide association studies have identified prostate cancer susceptibility alleles on chromosome 11q13. As part of the Cancer Genetic Markers of Susceptibility (CGEMS) Initiative, the region flanking the most significant marker, rs10896449, was fine mapped in 10 272 cases and 9123 controls of European origin (10 studies) using 120 common single nucleotide polymorphisms (SNPs) selected by a two-staged tagging strategy using HapMap SNPs. Single-locus analysis identified 18 SNPs below genome-wide significance (P< 10(-8)) with rs10896449 the most significant (P= 7.94 × 10(-19)). Multi-locus models that included significant SNPs sequentially identified a second association at rs12793759 [odds ratio (OR) = 1.14, P= 4.76 × 10(-5), adjusted P= 0.004] that is independent of rs10896449 and remained significant after adjustment for multiple testing within the region. rs10896438, a proxy of previously reported rs12418451 (r(2)= 0.96), independent of both rs10896449 and rs12793759 was detected (OR = 1.07, P= 5.92 × 10(-3), adjusted P= 0.054). Our observation of a recombination hotspot that separates rs10896438 from rs10896449 and rs12793759, and low linkage disequilibrium (rs10896449-rs12793759, r(2)= 0.17; rs10896449-rs10896438, r(2)= 0.10; rs12793759-rs10896438, r(2)= 0.12) corroborate our finding of three independent signals. By analysis of tagged SNPs across ∼123 kb using next generation sequencing of 63 controls of European origin, 1000 Genome and HapMap data, we observed multiple surrogates for the three independent signals marked by rs10896449 (n= 31), rs10896438 (n= 24) and rs12793759 (n= 8). Our results indicate that a complex architecture underlying the common variants contributing to prostate cancer risk at 11q13. We estimate that at least 63 common variants should be considered in future studies designed to investigate the biological basis of the multiple association signals.

Published
2011

7. Lung Cancer Screening in the Randomized Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial

Author

Ping Hu, Thomas L. Riley, David A. Lynch, Lawrence R. Ragard, Mona N. Fouad, Christine D. Berg, Lance A. Yokochi, Philip C. Prorok, Paul F. Pinsky, Saundra S. Buys, John K. Gohagan, Stephen D. Winslow, Gerald L. Andriole, William G. Hocking, Claudine Isaacs, Martin M. Oken, John Commins, Paul A. Kvale, and Carl R. Fuhrman

Subjects
Male, Oncology, Cancer Research, medicine.medical_specialty, Lung Neoplasms, law.invention, Randomized controlled trial, law, Carcinoma, Non-Small-Cell Lung, Internal medicine, Cancer screening, medicine, Humans, Lung cancer, Early Detection of Cancer, Aged, Neoplasm Staging, Ovarian Neoplasms, Last Screening, medicine.diagnostic_test, business.industry, Mortality rate, Smoking, Prostatic Neoplasms, Cancer, Articles, Middle Aged, medicine.disease, Mass Chest X-Ray, United States, Logistic Models, Patient Compliance, Female, Colorectal Neoplasms, business, Chest radiograph, Lung cancer screening
Abstract

Background The 5-year overall survival rate of lung cancer patients is approximately 15%. Most patients are diagnosed with advanced-stage disease and have shorter survival rates than patients with early-stage disease. Although screening for lung cancer has the potential to increase early diagnosis, it has not been shown to reduce lung cancer mortality rates. In 1993, the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial was initiated specifically to determine whether screening would reduce mortality rates from PLCO cancers. Methods A total of 77 464 participants, aged 55–74 years, were randomly assigned to the intervention arm of the PLCO Cancer Screening Trial between November 8, 1993, and July 2, 2001. Participants received a baseline chest radiograph (CXR), followed by three annual single-view CXRs at the 10 US screening centers. Cancers were classified as screen detected and nonscreen detected (interval or never screened) and according to tumor histology. The positivity rates of screen-detected cancers and positive predictive values (PPVs) were calculated. Because 51.6% of the participants were current or former smokers, logistic regression analysis was performed to control for smoking status. All statistical tests were two-sided. Results Compliance with screening decreased from 86.6% at baseline to 78.9% at the last screening. Overall positivity rates were 8.9% at baseline and 6.6%–7.1% at subsequent screenings; positivity rates increased modestly with smoking risk categories (Ptrend < .001). The PPVs for all participants were 2.0% at baseline and 1.1%, 1.5%, and 2.4% at years 1, 2, and 3, respectively; PPVs in current smokers were 5.9% at baseline and 3.3%, 4.2%, and 5.6% at years 1, 2, and 3, respectively. A total of 564 lung cancers were diagnosed, of which 306 (54%) were screendetected cancers and 87% were non–small cell lung cancers. Among non–small cell lung cancers, 59.6% of screen-detected cancers and 33.3% of interval cancers were early (I–II) stage. Conclusions The PLCO Cancer Screening Trial demonstrated the ability to recruit, retain, and screen a large population over multiple years at multiple centers. A higher proportion of screen-detected lung cancers were early stage, but a conclusion on the effectiveness of CXR screening must await final PLCO results, which are anticipated at the end of 2015.

Published
2010

8. Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry

Author

Núria Malats, Robert L. Grubb, Jarmo Virtamo, William Wheeler, Zhaoming Wang, Françoise Clavel-Chapelon, Helena Furberg, Colin P.N. Dinney, Stephanie J. Weinstein, Josep Lloreta, Edward Giovannucci, Jan G. Hengstler, Katja K.H. Aben, Manolis Kogevinas, Simonetta Guarrera, Paul Brennan, Joseph Vijai, Alison Johnson, Paolo Vineis, Consol Serra, Mark P. Purdue, Peter Kraft, Vijayalakshmi Panduri, Morgan Rouprêt, Anne Tjønneland, Angela Carta, Geraldine Cancel-Tassin, Thorunn Rafnar, Marianna C. Stern, Molly Schwenn, Silvia Selinski, Giuseppe Matullo, H. Bas Bueno-de-Mesquita, Ruth C. Travis, Jennifer Prescott, Rebecca P. Jeppson, Stephen J. Chanock, Kvetoslava Koppova, David Van Den Berg, Stella Koutros, Amanda Black, Immaculata De Vivo, Stefano Porru, Jack A. Taylor, Laurie Burdett, Alfredo Carrato, Anne E. Kiltie, Timothy Bishop, Ludmila Prokunina-Olsson, Xia Pu, Charles Kooperberg, Reina García-Closas, Charles C. Chung, Cecilia Arici, Debra T. Silverman, W. Ryan Diver, Christopher A. Haiman, Eugene Gurzau, A. Rouf Banday, Amy Hutchinson, Mark Teo, Lambertus A. Kiemeney, Dalsu Baris, Kari Stefansson, Vittorio Krogh, Elio Riboli, Jose E. Castelao, Mark Harland, Victoria K. Cortessis, Chancellor Hohensee, Gerald L. Andriole, Demetrius Albanes, Margaret R. Karagas, Jonine D. Figueroa, Alan R. Schned, Joseph F. Fraumeni, Yilei Gong, Olivier Cussenot, Montserrat Garcia-Closas, Adonina Tardón, Manuela Gago-Dominguez, Simone Benhamou, Candace D. Middlebrooks, Patrick Sulem, Zongli Xu, Ashish M. Kamat, Giovanni Fiorito, Nilanjan Chatterjee, Tessel E. Galesloot, Sara Lindström, Eva Comperat, Kenneth Offit, Giuseppe Mastrangelo, Malcolm C. Pike, Ryan P. Kopp, Eric J. Jacobs, Holger Gerullis, G. M. Monawar Hosain, Gudmar Thorleifsson, Elisabete Weiderpass, Maria Elena Martinez, Constance Turman, Börje Ljungberg, David V. Conti, Patricia Cordeiro, Jenny Chang-Claude, David J. Hunter, Meinolf Blaszkewicz, Sita H. Vermeulen, Carlotta Sacerdote, Nathaniel Rothman, Xifeng Wu, Dean F. Bajorin, Jian-Min Yuan, Maria Teresa Landi, Susan M. Gapstur, Manuel Calaza, Sofia Pavanello, Yuanqing Ye, Tony Fletcher, Liren Zhang, Afshan Siddiq, Neil E. Caporaso, Miren Dorronsoro, Rajiv Kumar, Klaus Golka, and Daniel Ovsiannikov

Subjects
0301 basic medicine, Male, Candidate gene, Linkage disequilibrium, Chromosomes, Human, Pair 20, Genome-wide association study, RECOMBINATION HOTSPOTS, Linkage Disequilibrium, Risk Factors, Molecular Biology, Genetics, Genetics (clinical), CONFERS SUSCEPTIBILITY, Genetics & Heredity, Association Studies Articles, GENETIC-VARIATION, General Medicine, 11 Medical And Health Sciences, NAT2 SLOW ACETYLATION, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], GSTM1 NULL, Female, SMOKING, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, European Continental Ancestry Group, Locus (genetics), Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, medicine, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, Genetic Association Studies, METAANALYSIS, Genetic association, Bladder cancer, Science & Technology, Chromosomes, Human, Pair 13, 06 Biological Sciences, medicine.disease, NUCLEOTIDE EXCHANGE FACTOR, 030104 developmental biology, Urinary Bladder Neoplasms, SEQUENCE VARIANT, Case-Control Studies, Imputation (genetics), Genome-Wide Association Study
Abstract

Contains fulltext : 167299.pdf (Publisher’s version ) (Closed access) Candidate gene and genome-wide association studies (GWAS) have identified 15 independent genomic regions associated with bladder cancer risk. In search for additional susceptibility variants, we followed up on four promising single-nucleotide polymorphisms (SNPs) that had not achieved genome-wide significance in 6911 cases and 11 814 controls (rs6104690, rs4510656, rs5003154 and rs4907479, P < 1 x 10(-6)), using additional data from existing GWAS datasets and targeted genotyping for studies that did not have GWAS data. In a combined analysis, which included data on up to 15 058 cases and 286 270 controls, two SNPs achieved genome-wide statistical significance: rs6104690 in a gene desert at 20p12.2 (P = 2.19 x 10(-11)) and rs4907479 within the MCF2L gene at 13q34 (P = 3.3 x 10(-10)). Imputation and fine-mapping analyses were performed in these two regions for a subset of 5551 bladder cancer cases and 10 242 controls. Analyses at the 13q34 region suggest a single signal marked by rs4907479. In contrast, we detected two signals in the 20p12.2 region-the first signal is marked by rs6104690, and the second signal is marked by two moderately correlated SNPs (r(2) = 0.53), rs6108803 and the previously reported rs62185668. The second 20p12.2 signal is more strongly associated with the risk of muscle-invasive (T2-T4 stage) compared with non-muscle-invasive (Ta, T1 stage) bladder cancer (case-case P

Published
2015

9. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types

Author

Yeul Hong Kim, Sonja I. Berndt, José María Huerta, Morgan Rouprêt, Reury Perng Perng, Yi Young Choi, Lindsay M. Morton, Roberto Tirabosco, H. Bas Bueno-de-Mesquita, Wendy Cozen, Neil E. Caporaso, Stephen J. Chanock, Zhenhong Zhao, Dina Halai, Neyssa Marina, Ann L. Oberg, Stephen M. Ansell, Zhibin Hu, Donghui Li, Anne J. Novak, Jenny Turner, Wen Tan, Julie E. Buring, Stefano Porru, Qincheng He, Tania Carreón, Guoping Wu, Graham G. Giles, Claire M. Vajdic, Rudolf Kaaks, Ulrika Andersson, Susan L. Slager, Jen Yu Hung, Luis Sierrasesúmaga, Roel Vermeulen, Louise A. Brinton, Myron D. Gross, Jennifer Prescott, E. Lund, Chih Yi Chen, Jin Eun Choi, Chaoyu Wang, George J. Weiner, H. Dean Hosgood, Haixin Li, Carrie A. Thompson, Núria Malats, James McKay, Stephanie J. Weinstein, Young Tae Kim, Emily White, Pan-Chyr Yang, Orestis A. Panagiotou, Robert J. Klein, Joseph Vijai, Josep Lloreta, Immaculata De Vivo, Sofia Pavanello, Thomas E. Witzig, Montserrat Garcia-Closas, Roger Henriksson, Bryan A. Bassig, Tait D. Shanafelt, Rachel S. Kelly, Joseph M. Connors, Marco Rais, Wu Chou Su, Alex Smith, John J. Spinelli, Julie M. Gastier-Foster, Anne Kricker, In Kyu Park, Marc J. Gunter, Chancellor Hohensee, Simon Crouch, Jarmo Virtamo, M. G. Ennas, Lucia Conde, Lotte Maxild Mortensen, Lenka Foretova, Eric J. Duell, Anthony Staines, Hongyan Chen, Baosen Zhou, Brian M. Wolpin, Simone Benhamou, Zhaoming Wang, Françoise Clavel-Chapelon, Charles C. Chung, Nan Hu, Domenico Palli, Rebecca Montalvan, Thomas M. Habermann, Debra T. Silverman, Preetha Rajaraman, Christian C. Abnet, Wei-Yen Lim, Yuh Min Chen, Michelle Cotterchio, Lucia Miligi, Claudia Maria Hattinger, Eve Roman, Christopher Kim, Federico Canzian, Alan D. L. Sihoe, Sharon A. Savage, Mark P. Purdue, Maria Teresa Landi, Susan M. Gapstur, M Zucca, Yuanqing Ye, Jian Su, Chong-Jen Yu, Edward Giovannucci, Alain Monnereau, Afshan Siddiq, Ralph L. Erickson, Katherine A. McGlynn, Petra H.M. Peeters, W. Ryan Diver, David Van Den Berg, Gloria M. Petersen, Judith Hoffman-Bolton, Xiao-Ou Shu, Ying Chen, Eric J. Jacobs, Heiner Boeing, Sophia S. Wang, Hans-Olov Adami, Yuqing Li, Jacqueline Clavel, Ellen T. Chang, Tongzhang Zheng, William Pao, Hideo Kunitoh, Ulrike Peters, Jenny Chang-Claude, Alexandra Nieters, Silvia de Sanjosé, Chen Wu, Anders Ahlbom, Jun Suk Kim, Fredrick R. Schumacher, Roberta McKean-Cowdin, Laurence N. Kolonel, Herbert Yu, Li Liu, Vittorio Krogh, Tangchun Wu, Ho Il Yoon, Joseph F. Fraumeni, Olivier Cussenot, Jae Sook Sung, Kari E. North, Andrew D. Zelenetz, Ana Patiño-García, Anne Zeleniuch-Jacquotte, Christopher A. Haiman, Biyun Qian, Giovanni Maria Ferri, Rebecca Rodabough, Xifeng Wu, Maria Feychting, Kuan-Yu Chen, Laure Dossus, Jianjun Liu, Jean Wactawski-Wende, Constance Chen, Robert L. Grubb, Paolo Vineis, Mads Melbye, Chien Chung Lin, Malin Sund, Wei Zheng, Jun Xu, Yi Song Chen, Kay-Tee Khaw, Richard K. Severson, Kun-Chieh Chen, Jian-Min Yuan, Bu Tian Ji, Simonetta Di Lollo, Ping Xu, Howard D. Sesso, Yoo Jin Jung, Margaret R. Karagas, Piero Picci, Gianluca Severi, Margaret A. Tucker, Ti Ding, Gee-Chen Chang, Li Hsin Chien, She-Juan An, Maria Pik Wong, Chien-Jen Chen, Jonine D. Figueroa, Sun-Seog Kweon, Katia Scotlandi, Sara H. Olson, Kendra Schwartz, Chang Hyun Kang, Marta Crous-Bou, Yawei Zhang, Ludmila Prokunina-Olsson, Yolanda Benavente, Christine D. Berg, Kala Visvanathan, Loic Le Marchand, Takashi Kohno, Nilanjan Chatterjee, Tracy Lightfoot, Zhihua Yin, Lee E. Moore, Joanne S. Colt, Laurie Burdett, Tetsuya Mitsudomi, Harvey A. Risch, Alfredo Carrato, Hyo Sung Jeon, Victoria L. Stevens, Richard Gorlick, Danylo J. Villano, Alison P. Klein, Angela Brooks-Wilson, Joshua N. Sampson, Chu Chen, You-Lin Qiao, Kouya Shiraishi, Alan R. Schned, Dominique S. Michaud, Peng Guan, Philip R. Taylor, Gerald L. Andriole, John K.C. Chan, Eva Comperat, Randy D. Gascoyne, Marc Maynadie, Kyong Hwa Park, Amanda Black, Charles Kooperberg, Andrea La Croix, Kenneth Offit, Peter Kraft, David Thomas, Manuela Gago-Dominguez, Manolis Kogevinas, Theodore R. Holford, Pamela L. Horn-Ross, Xingzhou He, Massimo Serra, Satu Männistö, Christoffer Johansen, Meredith Yeager, Robert N. Hoover, Mary Ann Butler, William Wheeler, Jian Gu, Wei Wu, Ying Hsiang Chen, Leslie Bernstein, Yao Jen Li, David J. Hunter, In-Jae Oh, Jay S. Wunder, Meng Zhu, Henrik Hjalgrim, Martyn T. Smith, Alisa M. Goldstein, Linda M. Liao, Chao Agnes Hsiung, Ruth C. Travis, Jiucun Wang, Marie-Christine Boutron-Ruault, Daru Lu, Reina García-Closas, Avima M. Ruder, Martha S. Linet, Wei Tang, Geraldine Cancel-Tassin, Brian K. Link, Rebecca D. Jackson, J. Michael Gaziano, Malcolm C. Pike, Yu-Tang Gao, Lisa Mirabello, Alan A. Arslan, Hong Zheng, Nicolas Wentzensen, Chung Hsing Chen, I. Shou Chang, Meir J. Stampfer, Brenda M. Birmann, Alison Johnson, Wong-Ho Chow, Chin-Fu Hsiao, Neal D. 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Subjects
Male, Cancer Research, Lung Neoplasms, Lymphoma, Genome-wide association study, Polymorphism (computer science), Neoplasms, Medicine, Chronic, Genetics, Osteosarcoma, Oncology And Carcinogenesis, Leukemia, Smoking, Family aggregation, Single Nucleotide, Middle Aged, Familial risk, Diffuse, Kidney Neoplasms, Lymphocytic, Oncology, Adult, Aged, Asian Continental Ancestry Group, Bone Neoplasms, European Continental Ancestry Group, Female, Humans, Leukemia, Lymphocytic, Chronic, B-Cell, Lymphoma, Large B-Cell, Diffuse, Polymorphism, Single Nucleotide, Testicular Neoplasms, Tissue Array Analysis, Urinary Bladder Neoplasms, Genetic Predisposition to Disease, Genome-Wide Association Study, Genetic correlation, Large B-Cell, Oncology & Carcinogenesis, Polymorphism, business.industry, Extramural, B-Cell, Cancer, Heritability, Genome-wide association studies for thirteen cancer types, medicine.disease, business
Abstract

BACKGROUND: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.METHODS: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers.RESULTS: GWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, hl (2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (ρ = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (ρ = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (ρ = 0.51, SE =0.18), and bladder and lung (ρ = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures.CONCLUSION: Our results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.

Published
2015

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