Hereditary Ovarian Cancer Syndromes

The greatest single risk factor for the development of EOC is a family history of breast and/or ovarian cancer. Pooled data from the SEER database at the National

Cancer Institute indicate the lifetime probability of ovarian cancer in the general population to be about 1.6%. This risk increases to 5% for women with one first-degree relative with ovarian cancer, and to 7.2% for women with two or three relatives with ovarian cancer (71). Currently, it is estimated that only approx 5-10% of ovarian cancers occur in patients with a familial predisposition (72-76). Based on studies of large families with multiple cases of ovarian cancer, two major syndromes of familial ovarian cancer have been described: hereditary breast/ovarian cancer syndrome (HBOC) and hereditary nonpolyposis colon cancer syndrome (HNPCC), or Lynch syndrome type II (67,77). In these families, cancer risk appears to be transmitted in an autosomal dominant fashion (67). Originally, site-specific ovarian cancer described as a third separate syndrome, is now felt to be a variant of HBOC in families experiencing a lack of breast cancer cases, as a result of variability of cancer risk with a specific genetic mutation, lack of accurate family history information, or chance variation. Together, HBOC and HNPCC are responsible for the vast majority of familial ovarian cancer.

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