BRCA1 and BRCA2 germline mutations in Korean ovarian cancer patients.
OBJECTIVE
To evaluate the proportion of Korean ovarian cancer patients with a strong family history and the genetic status in such patients.


METHODS
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.
Lim
Myong Cheol
MC
Center for Uterine Cancer, Research Institute and Hospital, National Cancer Center, 111, Jungbalsan-ro, Ilsandong-gu, Goyang-si, Gyeonggi-do 410-769, Korea. mclim@ncc.re.kr
Kang
Sokbom
S
Seo
Sang-Soo
SS
Kong
Sun-Young
SY
Lee
Bo-Yon
BY
Lee
Seon-Kyung
SK
Park
Sang-Yoon
SY
D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics*