Rare variants in XRCC2 as breast cancer susceptibility alleles

FS Hilbers; JT Wijnen; N Hoogerbrugge; JC Oosterwijk; MJ Collee; P Peterlongo; P Radice; S Manoukian; I Feroce; F Capra; FJ Couch; X Wang; L Guidugli; K Offit; S Shah; IG Campbell; ER Thompson; PA James; AH Trainer; J Gracia; J Benitez; CJ van Asperen; P Devilee

Journal article

Rare variants in XRCC2 as breast cancer susceptibility alleles

FS Hilbers, JT Wijnen, N Hoogerbrugge, JC Oosterwijk, MJ Collee, P Peterlongo, P Radice, S Manoukian, I Feroce, F Capra, FJ Couch, X Wang, L Guidugli, K Offit, S Shah, IG Campbell, ER Thompson, PA James, AH Trainer, J Gracia Show all

Journal of Medical Genetics | Published : 2012

DOI: 10.1136/jmedgenet-2012-101191

Abstract

Background: Recently, rare germline variants in XRCC2 were detected in non-BRCA1/2 familial breast cancer cases, and a significant association with breast cancer was reported. However, the breast cancer risk associated with these variants needs further evaluation. Methods: The coding regions and exon-intron boundaries of XRCC2 were scanned for mutations in an international cohort of 3548 non-BRCA1/2 familial breast cancer cases and 1435 healthy controls using various mutation scanning methods. Predictions on functional relevance of detected missense variants were obtained from three different prediction algorithms. Results: The only protein-truncating variant detected was found in a control...

View full abstract

University of Melbourne Researchers

Prof Ian Campbell Author

DR Ella Thompson Author

Prof Paul James Author

DR Alison Trainer Author

Grants

Awarded by Dutch Cancer Society

Awarded by Health Ministry

Funding Acknowledgements

The LUMC was supported by the Dutch Cancer Society (grant UL 2009-4388). MBCSG thanks Bernard Peissel and Daniela Zaffaroni of Fondazione IRCCS Istituto Nazionale Tumori; Bernardo Bonanni and Monica Barile of Istituto Europeo di Oncologia, and the personnel of the CGT laboratory at IFOM-IEO Campus. MBCSG was funded by grants from Fondazione Italiana per la Ricerca sul Cancro (Special Project 'Hereditary tumors'), Italian Ministry of Health ('Progetto Tumori Femminili'), and by Italian citizens who allocated the 5 x 1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects `5 x 1000'). The CNIO was partially supported by the Spanish Association against Cancer and FIS08-1120 from the Health Ministry. At MSKK support was from the Breast Cancer Research Fund and Miele Fund.