| Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. | |
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MedLine Citation:
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PMID: 22351618 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). METHODS: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. RESULTS: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 × 10(-4)] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers. We also found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05-1.29; P = 3.8 × 10(-4)) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10-1.52; P = 1.8 × 10(-3)). CONCLUSIONS: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. IMPACT: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers. |
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Authors:
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Fergus J Couch; Mia M Gaudet; Antonis C Antoniou; Susan J Ramus; Karoline B Kuchenbaecker; Penny Soucy; Jonathan Beesley; Xiaoqing Chen; Xianshu Wang; Tomas Kirchhoff; Lesley McGuffog; Daniel Barrowdale; Andrew Lee; Sue Healey; Olga M Sinilnikova; Irene L Andrulis; ; Hilmi Ozcelik; Anna Marie Mulligan; Mads Thomassen; Anne-Marie Gerdes; Uffe Birk Jensen; Anne-Bine Skytte; Torben A Kruse; Maria A Caligo; Anna von Wachenfeldt; Gisela Barbany-Bustinza; Niklas Loman; Maria Soller; Hans Ehrencrona; Per Karlsson; ; Katherine L Nathanson; Timothy R Rebbeck; Susan M Domchek; Ania Jakubowska; Jan Lubinski; Katarzyna Jaworska; Katarzyna Durda; Elzbieta Zlowocka; Tomasz Huzarski; Tomasz Byrski; Jacek Gronwald; Cezary Cybulski; Bohdan Górski; Ana Osorio; Mercedes Durán; María Isabel Tejada; Javier Benitez; Ute Hamann; Frans B L Hogervorst; ; Theo A van Os; Flora E van Leeuwen; Hanne E J Meijers-Heijboer; Juul Wijnen; Marinus J Blok; Marleen Kets; Maartje J Hooning; Rogier A Oldenburg; Margreet G E M Ausems; Susan Peock; Debra Frost; Steve D Ellis; Radka Platte; Elena Fineberg; D Gareth Evans; Chris Jacobs; Rosalind A Eeles; Julian Adlard; Rosemarie Davidson; Diana M Eccles; Trevor Cole; Jackie Cook; Joan Paterson; Carole Brewer; Fiona Douglas; Shirley V Hodgson; Patrick J Morrison; Lisa Walker; Mary E Porteous; M John Kennedy; Lucy E Side; ; Betsy Bove; Andrew K Godwin; Dominique Stoppa-Lyonnet; ; Marion Fassy-Colcombet; Laurent Castera; François Cornelis; Sylvie Mazoyer; Mélanie Léoné; Nadia Boutry-Kryza; Brigitte Bressac-de Paillerets; Olivier Caron; Pascal Pujol; Isabelle Coupier; Capucine Delnatte; Linda Akloul; Henry T Lynch; Carrie L Snyder; Saundra S Buys; Mary B Daly; Marybeth Terry; Wendy K Chung; Esther M John; Alexander Miron; Melissa C Southey; John L Hopper; David E Goldgar; Christian F Singer; Christine Rappaport; Muy-Kheng M Tea; Anneliese Fink-Retter; Thomas V O Hansen; Finn C Nielsen; Aðalgeir Arason; Joseph Vijai; Sohela Shah; Kara Sarrel; Mark E Robson; Marion Piedmonte; Kelly Phillips; Jack Basil; Wendy S Rubinstein; John Boggess; Katie Wakeley; Amanda Ewart-Toland; Marco Montagna; Simona Agata; Evgeny N Imyanitov; Claudine Isaacs; Ramunas Janavicius; Conxi Lazaro; Ignacio Blanco; Lidia Feliubadalo; Joan Brunet; Simon A Gayther; Paul P D Pharoah; Kunle O Odunsi; Beth Y Karlan; Christine S Walsh; Edith Olah; Soo Hwang Teo; Patricia A Ganz; Mary S Beattie; Elizabeth J van Rensburg; Cecelia M Dorfling; Orland Diez; Ava Kwong; Rita K Schmutzler; Barbara Wappenschmidt; Christoph Engel; Alfons Meindl; Nina Ditsch; Norbert Arnold; Simone Heidemann; Dieter Niederacher; Sabine Preisler-Adams; Dorothea Gadzicki; Raymonda Varon-Mateeva; Helmut Deissler; Andrea Gehrig; Christian Sutter; Karin Kast; Britta Fiebig; Wolfram Heinritz; Trinidad Caldes; Miguel de la Hoya; Taru A Muranen; Heli Nevanlinna; Marc D Tischkowitz; Amanda B Spurdle; Susan L Neuhausen; Yuan Chun Ding; Noralane M Lindor; Zachary Fredericksen; V Shane Pankratz; Paolo Peterlongo; Siranoush Manoukian; Bernard Peissel; Daniela Zaffaroni; Monica Barile; Loris Bernard; Alessandra Viel; Giuseppe Giannini; Liliana Varesco; Paolo Radice; Mark H Greene; Phuong L Mai; Douglas F Easton; Georgia Chenevix-Trench; ; Kenneth Offit; Jacques Simard; |
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Publication Detail:
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Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. Date: 2012-02-20 |
Journal Detail:
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Title: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology Volume: 21 ISSN: 1538-7755 ISO Abbreviation: Cancer Epidemiol. Biomarkers Prev. Publication Date: 2012 Apr |
Date Detail:
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Created Date: 2012-03-30 Completed Date: 2012-08-28 Revised Date: 2013-02-08 |
Medline Journal Info:
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Nlm Unique ID: 9200608 Medline TA: Cancer Epidemiol Biomarkers Prev Country: United States |
Other Details:
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Languages: eng Pagination: 645-57 Citation Subset: IM |
Copyright Information:
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©2012 AACR. |
Affiliation:
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Departments of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. couch.fergus@mayo.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Aged BRCA1 Protein / genetics* BRCA2 Protein / genetics* Breast Neoplasms / epidemiology, genetics*, metabolism Chromosomes, Human, Pair 19 / genetics* DNA-Binding Proteins / genetics* Female Genetic Predisposition to Disease Genome-Wide Association Study Genotype Humans Immunoenzyme Techniques Middle Aged Mutation / genetics Ovarian Neoplasms / epidemiology, genetics*, metabolism Polymorphism, Single Nucleotide / genetics Prognosis Receptors, Estrogen / metabolism* Risk Factors Transcription Factors / genetics* United States / epidemiology |
| Grant Support | |
ID/Acronym/Agency:
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5U01CA113916/CA/NCI NIH HHS; C12292/A11174//Cancer Research UK; C1287/A10118//Cancer Research UK; C1287/A11990//Cancer Research UK; C5047/A8385//Cancer Research UK; CA-06503/CA/NCI NIH HHS; CA116201/CA/NCI NIH HHS; CA128978/CA/NCI NIH HHS; N02-CP-11019-50/CP/NCI NIH HHS; N02-CP-65504/CP/NCI NIH HHS; N02PC45022-46/PC/NCI NIH HHS; P01 CA130818-02A1/CA/NCI NIH HHS; P30-CA051008/CA/NCI NIH HHS; P50 CA116201-07/CA/NCI NIH HHS; R01 CA102776/CA/NCI NIH HHS; R01 CA128978/CA/NCI NIH HHS; R01 CA128978-04/CA/NCI NIH HHS; R01-CA083855/CA/NCI NIH HHS; U01 CA69398/CA/NCI NIH HHS; U01 CA69417/CA/NCI NIH HHS; U01 CA69446/CA/NCI NIH HHS; U01 CA69467/CA/NCI NIH HHS; U01 CA69631/CA/NCI NIH HHS; U01 CA69638/CA/NCI NIH HHS; U01CA69631/CA/NCI NIH HHS; //Canadian Institutes of Health Research |
| Chemical | |
Reg. No./Substance:
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0/BRCA1 Protein; 0/BRCA1 protein, human; 0/BRCA2 Protein; 0/BRCA2 protein, human; 0/DNA-Binding Proteins; 0/Receptors, Estrogen; 0/Transcription Factors; 0/ZNF365 protein, human |
| Comments/Corrections | |
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