BRCA1 and BRCA2 germline mutations in Korean ovarian cancer patients

• Published in: Journal of cancer research and clinical oncology Vol. 135; no. 11; pp. 1593 - 1599
• Main Authors: Lim, Myong Cheol, Kang, Sokbom, Seo, Sang-Soo, Kong, Sun-Young, Lee, Bo-Yon, Lee, Seon-Kyung, Park, Sang-Yoon
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Berlin/Heidelberg : Springer-Verlag 01.11.2009; Springer-Verlag; Springer; Springer Nature B.V
• Subjects: Adult; Aged; Antineoplastic agents; Asian Continental Ancestry Group - genetics; Asian people; Biological and medical sciences; Cancer Research; Female; Female genital diseases; Genes, BRCA1; Genes, BRCA2; Genetic testing; Germ-Line Mutation; Gynecology. Andrology. Obstetrics; Hematology; Humans; Internal Medicine; Medical sciences; Medicine; Medicine & Public Health; Middle Aged; Mutation; Oncology; Original Paper; Ovarian cancer; Ovarian Neoplasms - genetics; Pharmacology. Drug treatments; Tumors; Asia; Korea; Germline mutation; Genetics; Ovarian cancer; Human; Ovary cancer; Patient; Malignant tumor; BRCA1; BRCA2; Female genital diseases; Genetic disease; Ovarian diseases; BRCA2 gene; BRCA1 gene; Cancer; Tumor suppressor gene
• ISSN: 0171-5216; 1432-1335
• DOI: 10.1007/s00432-009-0607-3

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.