GENETIC VARIANTS, PHENOTYPIC SPECTRUM AND BREAST CANCER RISK ASSOCIATED WITH GERMLINE MUTATIONS IN PALB2: IDENTIFYING FEMALE PALB2 MUTATION CARRIERS AT THE TIME OF DIAGNOSIS

Grant number: 1017121 | Funding period: 2011 - 2012

Completed

Abstract

Population studies of female breast cancer (BC) show only a small proportion of familial aspects of BC can be explained by current knowledge of its causes. Women carrying PALB2 mutations who also have a strong family history of BC are of increased risk of BC. Our work will further define the risks and devise criteria to identify women most likely to carry PALB2 mutations. This will help prioritize testing, classify PALB2 variants and provide appropriate clinical management to carriers.