Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

ABSTRACT: Germline pathogenic variants in the BRCA2 gene are associated with a cumulative high risk of breast/ovarian cancer. Several BRCA2 variants result in complete loss of the exon-3 at the transcript level. The pathogenicity of these variants and the functional impact of loss of exon 3 have yet to be established. As a collaboration of the COVAR clinical trial group (France), and the ENIGMA consortium for investigating breast cancer gene variants, this study evaluated 8 BRCA2 variants resulting in complete deletion of exon 3. Clinical information for 39 families was gathered from Portugal, France, Denmark and Sweden. Multifactorial likelihood analyses were conducted using information from 293 patients, for 7 out of the 8 variants (including 6 intronic). For all variants comb

SUBMITTER: Caputo SM 

PROVIDER: S-EPMC5915120 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature