Genetic predisposition to breast and/or ovarian cancer – focus on the candidate BARD1 gene

Germline mutations affecting the BRCA1 and BRCA2 genes explain 16-40% of breast and/or ovarian cancers aggregated

in families. Besides the BRCA1/2 genes and several genetic factors associated with hereditary syndromes

which increase the risk of breast cancer, a considerable fraction of potential breast cancer predisposing

factors (-50%) remains unknown. It is presumed that candidate genes, functionally related to the BRCA1/2 genes,

may account for some of the missing heritability. The BARD1 gene, which encodes a protein indispensable for

BRCA1-mediated tumor suppression function and adequate apoptosis regulation, serves as a candidate breast

cancer susceptibility gene. Some initial reports indicated that BARD1 is a plausible target for several pathogenic

mutations associated with increased breast and/or ovarian cancer risk. Nonetheless, further mutational studies

are necessary to determine the penetrance and role of the BARD1 gene in cancer predisposition.