Hereditary Breastovarian Cancer Syndrome

HBOC accounts for approx 75-90% of cases of familial ovarian cancer (78). It is usually diagnosed in families with a history of breast and/or ovarian cancer affecting first-and second-degree relatives. Affected patients usually present with disease at younger ages. Although, SEER data from 1997 to 2001 indicate that the median age at diagnosis for breast cancer in the general population is 61 (79), patients with HBOC tend to present with median age in the early 40's (80). Similarly, patients in the general population with ovarian cancer present at a median age of 62 ( 79), compared with a mean age of 48 among patients diagnosed with EOC associated with germline mutations in BRCA1 (81).

Families with HBOC may display multiple primary tumors. A single individual might suffer both breast and ovarian cancer, or bilateral breast cancer. Female family members may also be predisposed to colon cancer, whereas male members may also carry an increased risk of breast, prostate, and colon cancer (82).

Histological differences are apparent among ovarian cancer patients affected by HBOC. Serous histology is the predominant subtype. In a series of 53 ovarian cancer patients with germline mutations in BRCA1 (81), 81% were noted to be of serous histology, compared with only 42% in the general population (83). Similarly, although mucinous and endometrioid types made up only 5% each, of the cases of hereditary ovarian cancer, these subtypes involved 12 and 15% of cancers in the general population, respectively. Though most cases of hereditary ovarian cancer are invasive, tumors of low malignant potential have been reported (81).

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