PALB2, CHEK2 and ATM rare variants and cancer risk : data from COGS |
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Author: | Southey, Melissa C.1; Goldgar, David E.2; Winqvist, Robert3,4; |
Organizations: |
1Univ Melbourne, Genet Epidemiol Lab, Dept Pathol, Melbourne, Vic 3010, Australia. 2Huntsman Canc Inst, Salt Lake City, UT USA. 3Univ Oulu, Lab Canc Genet & Tumor Biol, Canc & Translat Med Res Unit, Nordlab Oulu, Oulu, Finland.
4Univ Oulu, Bioctr Oulu, Oulu, Finland.
5Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA. 6Univ Cambridge, Dept Med Genet, Cambridge, England. 7Univ Cambridge, Natl Inst Hlth Res, Cambridge Biomed Res Ctr, Cambridge, England. 8Addenbrookes Hosp, Dept Clin Genet, East Anglian Reg Genet Serv, Cambridge, England. 9Lady Davis Inst, Program Canc Genet, Dept Human Genet & Oncol, Montreal, PQ, Canada. 10McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ, Canada. 11Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Strangeways Lab, Worts Causeway, Cambridge, England. 12Univ Pretoria, Dept Genet, Pretoria, South Africa. 13Univ Helsinki, Dept Obstet & Gynecol, Helsinki, Finland. 14Univ Helsinki, Cent Hosp, Helsinki, Finland. 15Univ Melbourne, Ctr Epidemiol & Biostat, Sch Populat & Global Hlth, Melbourne, Vic, Australia. 16Hannover Med Sch, Gynaecol Res Unit, Hannover, Germany. 17Ghent Univ Hosp, Ctr Med Genet, De Pintelaan 185, B-9000 Ghent, Belgium. 18Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New 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Format: | article |
Version: | published version |
Access: | open |
Online Access: | PDF Full Text (PDF, 0.4 MB) |
Persistent link: | http://urn.fi/urn:nbn:fi-fe201702211822 |
Language: | English |
Published: |
BMJ,
2016
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Publish Date: | 2017-03-30 |
Description: |
AbstractBackground: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p = 7.1 × 10⁻⁵), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p = 6.9 × 10⁻⁸) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p = 0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p ≤ 0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p = 0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p = 0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. Conclusions: This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important. see all
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Series: |
Journal of medical genetics |
ISSN: | 0022-2593 |
ISSN-E: | 1468-6244 |
ISSN-L: | 0022-2593 |
Volume: | 53 |
Issue: | 12 |
Pages: | 800 - 811 |
DOI: | 10.1136/jmedgenet-2016-103839 |
OADOI: | https://oadoi.org/10.1136/jmedgenet-2016-103839 |
Type of Publication: |
A1 Journal article – refereed |
Field of Science: |
3122 Cancers |
Subjects: | |
Funding: |
Funding for the iCOGS infrastructure came from: the European Community's Seventh Framework Programme under grant agreement no 223175(HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A 10710, C12292/A11174, C5047/A8384, C5047/A15007, C5047/A10692, CRUK C8197/A10123), the National Institutes of Health (CA128978) and Post-Cancer GWAS initiative (No. 1 U19 CA 148537-the GAME-ON initiative), the Department of Defense (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, Komen Foundation for the Cure, the Breast Cancer Research Foundation, the Ovarian Cancer Research Fund and Susan G Komen (WF). |
Copyright information: |
Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/ |
https://creativecommons.org/licenses/by/4.0/ |