PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS

MC Southey; DE Goldgar; R Winqvist; K Pylkäs; F Couch; M Tischkowitz; WD Foulkes; J Dennis; K Michailidou; EJ van Rensburg; T Heikkinen; H Nevanlinna; JL Hopper; T Dörk; KBM Claes; J Reis-Filho; ZL Teo; P Radice; I Catucci; P Peterlongo; H Tsimiklis; FA Odefrey; JG Dowty; MK Schmidt; A Broeks; FB Hogervorst; S Verhoef; J Carpenter; C Clarke; RJ Scott; PA Fasching; L Haeberle; AB Ekici; MW Beckmann; J Peto; I dos-Santos-Silva; O Fletcher; N Johnson; MK Bolla; EJ Sawyer; I Tomlinson; MJ Kerin; N Miller; F Marme; B Burwinkel; R Yang; P Guénel; T Truong; F Menegaux; M Sanchez; S Bojesen; SF Nielsen; H Flyger; J Benitez; MP Zamora; JIA Perez; P Menéndez; H Anton-Culver; S Neuhausen; A Ziogas; CA Clarke; H Brenner; V Arndt; C Stegmaier; H Brauch; T Brüning; YD Ko; TA Muranen; K Aittomäki; C Blomqvist; NV Bogdanova; NN Antonenkova; A Lindblom; S Margolin; A Mannermaa; V Kataja; VM Kosma; JM Hartikainen; AB Spurdle; E Wauters; D Smeets; B Beuselinck; G Floris; J Chang-Claude; A Rudolph; P Seibold; D Flesch-Janys; JE Olson; C Vachon; VS Pankratz; C McLean; CA Haiman; BE Henderson; F Schumacher; LL Marchand; V Kristensen; GG Alnæs; W Zheng; DJ Hunter; S Lindstrom

Journal article

PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS

MC Southey, DE Goldgar, R Winqvist, K Pylkäs, F Couch, M Tischkowitz, WD Foulkes, J Dennis, K Michailidou, EJ van Rensburg, T Heikkinen, H Nevanlinna, JL Hopper, T Dörk, KBM Claes, J Reis-Filho, ZL Teo, P Radice, I Catucci, P Peterlongo Show all

Journal of Medical Genetics | Published : 2016

DOI: 10.1136/jmedgenet-2016-103839

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Abstract

Background 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 wi..

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University of Melbourne Researchers

Melissa Southey Author

James Dowty Author

Catriona McLean Author

Graham Giles Author

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Grants

Awarded by Breast Cancer Research Foundation

Funding Acknowledgements

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).