REVIEW PAPER
Genetic predisposition to breast and/or ovarian cancer
– focus on the candidate BARD1 gene
Publication date: 2015-10-06
BioTechnologia 2014;95(3):203-214
KEYWORDS
ABSTRACT
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.
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.
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