Journal article
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families
J Li, H Meeks, BJ Feng, S Healey, H Thorne, I Makunin, J Ellis, I Campbell, M Southey, G Mitchell, D Clouston, J Kirk, D Goldgar, G Chenevix-Trench, undefined kConFab Investigators
Journal of Medical Genetics | Published : 2016
Abstract
Introduction Gene panel testing for breast cancer susceptibility has become relatively cheap and accessible. However, the breast cancer risks associated with mutations in many genes included in these panels are unknown. Methods We performed custom-designed targeted sequencing covering the coding exons of 17 known and putative breast cancer susceptibility genes in 660 non-BRCA1/2 women with familial breast cancer. Putative deleterious mutations were genotyped in relevant family members to assess co-segregation of each variant with disease. We used maximum likelihood models to estimate the breast cancer risks associated with mutations in each of the genes. Results We found 31 putative deleteri..
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Awarded by National Institutes of Health
Funding Acknowledgements
This project has been supported by funding from the Susan Komen Foundation as well as the National Health and Medical Research Council. The Clinical Follow Up Study has received funding from the NHMRC, the National Breast Cancer Foundation, Cancer Australia and the National Institute of Health (USA). kConFab is supported by a grant from the National Breast Cancer Foundation, and previously by the National Health and Medical Research Council (NHMRC), the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. HM is supported by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research and the Ministere de l'enseignement superieur, de la recherche, de la science et de la technologie du Quebec through Genome Quebec as part of the PERSPECTIVE project (CIHR grant GPH-129344). This work was supported in part by NIH grants CA128978 and CA116167.