BRCA1 and BRCA2 germline mutations in Korean ovarian cancer patients.

PURPOSE: To evaluate the proportion of Korean ovarian cancer patients with a strong family history and the genetic status in such patients.

METHODS AND PATIENTS: Pedigree analysis and genetic counseling were performed on 337 ovarian cancer patients in the National Cancer Center Korea between January 2005 and June 2008. Patients with a strong family history were defined as (1) patients with double primary ovarian and breast cancer and (2) ovarian cancer patients with one or more first-degree relatives with breast or ovarian cancer. Lymphocyte specimens from peripheral blood were processed for BRCA1 and BRCA2 by direct sequencing.

RESULTS

Sixteen percent (54/337) of patients had a strong family history. Of the 54 patients with a strong family history, 40 patients (74%) accepted the genetic test. Thirteen deleterious mutations (11 in BRCA1 and 2 in BRCA2) were identified (33%). Twenty-three of 283 patients (8%) without a strong family history underwent genetic testing and two deleterious mutations in BRCA1 were identified (9%). Eight of 15 mutations (53%) were novel, and c.1041delAGCinsT and c.2081insC in the BRCA1 gene were recurrent in two patients.

CONCLUSIONS

The proportion of Korean ovarian cancer patients with a strong family history was significant, and the prevalence of BRCA1 and BRCA2 mutations in such patients was high.