Clinicopathologic Features of BRCA-Linked and Sporadic Ovarian Cancer

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Abstract
Data from epidemiologic and molecular genetic analyses indicate that about 10% of all epithelial ovarian carcinomas are associated with autosomal dominant genetic predisposition, conferred primarily by inherited mutations in BRCA1 or BRCA2.1 The BRCA genes function as classic tumor suppressors, with loss of function of both alleles required for tumorigenic progression. Evidence exists supporting a role for the BRCA proteins in the cellular response to specific forms of DNA damage,2,3 and possibly in the transcriptional regulation of gene expression.4-8 Tumor-suppressor defects in specific pathways of DNA repair and gene expression, vs general defective growth regulation, may be predicted to lead to malignancies with distinct molecular genetic, pathological, and clinical features. Studies on defining the somatic molecular9 and cytogenetic10 alterations present in BRCA-associated ovarian cancers support this hypothesis.