Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer

SJ Ramus; H Song; E Dicks; JP Tyrer; AN Rosenthal; MP Intermaggio; L Fraser; A Gentry-Maharaj; J Hayward; S Philpott; C Anderson; CK Edlund; D Conti; P Harrington; D Barrowdale; DD Bowtell; K Alsop; G Mitchell; MS Cicek; JM Cunningham; BL Fridley; J Alsop; M Jimenez-Linan; S Poblete; S Lele; L Sucheston-Campbell; KB Moysich; W Sieh; V McGuire; J Lester; N Bogdanova; M Dürst; P Hillemanns; K Odunsi; AS Whittemore; BY Karlan; T Dörk; EL Goode; U Menon; IJ Jacobs; AC Antoniou; PDP Pharoah; SA Gayther

Journal article

Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer

SJ Ramus, H Song, E Dicks, JP Tyrer, AN Rosenthal, MP Intermaggio, L Fraser, A Gentry-Maharaj, J Hayward, S Philpott, C Anderson, CK Edlund, D Conti, P Harrington, D Barrowdale, DD Bowtell, K Alsop, G Mitchell, MS Cicek, JM Cunningham Show all

Journal of the National Cancer Institute | OXFORD UNIV PRESS INC | Published : 2015

DOI: 10.1093/jnci/djv214

Abstract

Background: Epithelial ovarian cancer (EOC) is the most lethal gynecological malignancy, responsible for 13 000 deaths per year in the United States. Risk prediction based on identifying germline mutations in ovarian cancer susceptibility genes could have a clinically significant impact on reducing disease mortality. Methods: Next generation sequencing was used to identify germline mutations in the coding regions of four candidate susceptibility genes-BRIP1, BARD1, PALB2 and NBN-in 3236 invasive EOC case patients and 3431 control patients of European origin, and in 2000 unaffected high-risk women from a clinical screening trial of ovarian cancer (UKFOCSS). For each gene, we estimated the pre..

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University of Melbourne Researchers

David Bowtell Author

Kathryn Alsop Author

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Grants

Awarded by National Institute for Health Research

Funding Acknowledgements

This work was funded by the Cancer Councils of New South Wales, Victoria, Queensland, South Australia, and Tasmania, the Cancer Foundation of Western Australia, Cancer Research UK (C1005/A7749, C315/A2621, C490/A10119, C490/A10124, C490/A16561, C1005/A12677, C1005/A6383), the Eve Appeal (The Oak Foundation), the Fred C. and Katherine B. Andersen Foundation, the National Institutes for Health (P30 CA016056, P30-CA15083, P50CA136393, P50CA159981, R01CA122443, R01CA178535, R01CA61107, R01CA152990, and R01CA086381), the National Health & Medical Research Council of Australia (NHMRC; ID400413, ID400281), Cancer Australia (509303), Roswell Park Cancer Institute Alliance Foundation, the UK Department of Health, the UK National Institute for Health Research Biomedical Research Centres at the University of Cambridge and University College London Hospitals Biomedical Research Centre, and the US Army Medical Research and Materiel Command (DAMD17-01-1-0729; W81XWH-08-1-0684 and W81XWH-08-1-0685). The project described was also supported in part by award number P30CA014089 from the National Cancer Institute.