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3/2014
vol. 95 abstract:
Review paper
Genetic predisposition to breast and/or ovarian cancer – focus on the candidate BARD1 gene
Katarzyna Klonowska
,
Magdalena Ratajska
,
Marzena Wojciechowska
,
Piotr Kozlowski
vol. 95(3) C pp. 203-214 C 2014
Online publish date: 2015/10/06
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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. keywords:
BARD1, breast and/or ovarian cancer, familial cancer predisposition, DSB repair genes |