Association of breast and ovarian cancers with predisposition genes identified by large-scale sequencing
JAMA Jan 14, 2019
Lu HM, et al. - Since the discovery of BRCA1 and BRCA2, multiple high- and moderate-penetrance genes have been reported as risk factors for hereditary breast cancer, ovarian cancer, or both, so researchers intended to confirm and identify additional genes that tend to predispose a patient to develop breast or ovarian cancer. In this study, an increased risk of breast cancer was correlated with the genes PALB2, ATM, CHEK2, and MSH6, while the genes MSH6, RAD51C, TP53, and ATM were related to an increased risk of ovarian cancer, after assessing whole-exome sequencing results from 11,416 patients with breast cancer, ovarian cancer or both and 3,988 controls. This investigation identified MSH6 and ATM as possible moderate-risk breast and ovarian cancer predisposition genes in addition to confirming several well-known breast or ovarian cancer gene associations.
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