title: BRCA1 and BRCA2 germline mutations in Korean ovarian cancer patients.
abstract: 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.
authors.affiliation: 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
authors.forename: Myong Cheol
authors.initials: MC
authors.lastname: Lim
authors.forename: Sokbom
authors.initials: S
authors.lastname: Kang
authors.forename: Sang-Soo
authors.initials: SS
authors.lastname: Seo
authors.forename: Sun-Young
authors.initials: SY
authors.lastname: Kong
authors.forename: Bo-Yon
authors.initials: BY
authors.lastname: Lee
authors.forename: Seon-Kyung
authors.initials: SK
authors.lastname: Lee
authors.forename: Sang-Yoon
authors.initials: SY
authors.lastname: Park
mesh_terms: 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*