BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases.

It is believed that BRCA1 and BRCA2 germline mutations account for the majority of hereditary ovarian carcinomas; however, to the authors' knowledge, there are scant data on the prevalence and spectrum of mutations, genotype/phenotype correlations, tumor histology, and family history characteristics. To address this gap, the authors conducted a population-based study of 232 incident epithelial ovarian carcinomas in the Tampa Bay area. Genetic testing for the BRCA1 and BRCA2 genes was performed through full sequencing and BRCA1 rearrangement testing. Of 209 women with invasive ovarian carcinoma, 32 women (15.3%) had mutations in BRCA1 or BRCA2, including 20 BRCA1 mutations and 12 BRCA2 mutations. Of the BRCA2 mutations, 58% were outside the "ovarian cancer cluster region" (OCCR). Variants of uncertain significance were detected in 8.2% of women with invasive ovarian carcinoma. No mutations were identified in women with borderline or invasive mucinous tumors. Among the BRCA mutation-positive women, 63% had serous tumors. A family history of breast and/or ovarian carcinoma was reported in 65%, 75%, and 43.5% of relatives of BRCA1 carriers, BRCA2 carriers, and non-BRCA1/BRCA2 carriers, respectively. The data from this study suggested that 1) previous studies may have underestimated the frequency of BRCA1 and BRCA2 mutations in ovarian carcinomas, especially outside the OCCR; 2) it may be reasonable to offer genetic counseling to any woman with an invasive, nonmucinous epithelial ovarian tumor; and 3) among patients with invasive ovarian carcinoma, family history is not sufficiently accurate to predict mutation status.

Pal T ，Permuth-Wey J ，Betts JA ，Krischer JP ，Fiorica J ，Arango H ，LaPolla J ，Hoffman M ，Martino MA ，Wakeley K ，Wilbanks G ，Nicosia S ，Cantor A ，Sutphen R ... -  《CANCER》

Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations.

Casey MJ ，Synder C ，Bewtra C ，Narod SA ，Watson P ，Lynch HT ... -  《GYNECOLOGIC ONCOLOGY》

Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations.

Satagopan JM ，Boyd J ，Kauff ND ，Robson M ，Scheuer L ，Narod S ，Offit K ... -  《CLINICAL CANCER RESEARCH》

BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: a population-based study.

Rafnar T ，Benediktsdottir KR ，Eldon BJ ，Gestsson T ，Saemundsson H ，Olafsson K ，Salvarsdottir A ，Steingrimsson E ，Thorlacius S ... -  《EUROPEAN JOURNAL OF CANCER》

Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.

Risch HA ，McLaughlin JR ，Cole DE ，Rosen B ，Bradley L ，Fan I ，Tang J ，Li S ，Zhang S ，Shaw PA ，Narod SA ... -  《-》