Germline Mutations of BRCA1 and BRCA2 in Korean Ovarian Cancer Patients. Issue 8 (October 2015)

• Record Type: Journal Article
• Authors: Choi, Min Chul; Heo, Jin-Hyung; Jang, Ja-Hyun; Jung, Sang Geun; Park, Hyun; Joo, Won Duk; Lee, Chan; Lee, Je Ho; Lee, Jun Mo; Hwang, Yoon Young; Kim, Seung Jo
• Is Part Of: International journal of gynecological cancer. Volume 25:Issue 8(2015:Oct.)
• Publication Date: 2015-10
• Subjects: Generative organs, Female -- Cancer -- Periodicals; 616.99465
• DOI: 10.1097/IGC.0000000000000529
• Languages: English
• ISSNs: 1048-891X

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <sec> <title>Objectives</title> <p>To investigate and analyze the <italic>BRCA</italic> mutations in Korean ovarian cancer patients with or without family history and to find founder mutations in this group.</p> </sec> <sec> <title>Methods/Materials</title> <p>One hundred two patients who underwent a staging operation for pathologically proven epithelial cancer between January 2013 and December 2014 were enrolled. Thirty-two patients declined to analyze <italic>BRCA1/2</italic> gene alterations after genetic counseling and pedigree analysis. Lymphocyte specimens from peripheral blood were assessed for <italic>BRCA1/2</italic> by direct sequencing.</p> </sec> <sec> <title>Results</title> <p> <italic>BRCA</italic> genetic test results of 70 patients were available. Eighteen <italic>BRCA1/2</italic> mutations and 17 unclassified variations (UVs) were found. Five of the <italic>BRCA1/2</italic> mutations and 4 of the UVs were not reported in the Breast Cancer Information Core database. One <italic>BRCA2</italic> UV (8665_8667delGGA) was strongly suspicious to be a deleterious mutation. <italic>BRCA1/2</italic> mutations were identified in 11 (61.1%) of 18 patients with a family history and in 7 (13.5%) of 52 patients without a family history.</p> <p>Candidates for founder mutations in Korean ovarian cancer patients were assessed among 39 <italic>BRCA1/2</italic> mutations from the present study and from literature reviews. The analysis showed that 1041_1043delAGCinsT (n = 4; 10.2%) and 3746insA (n = 4; 10.2%) were possible <italic>BRCA1</italic> founder mutations. Only one of the <italic>BRCA2</italic> mutations (5804_5807delTTAA) was repeated twice (n = 2; 5.1%).</p> </sec> <sec> <title>Conclusions</title> <p>The prevalence of <italic>BRCA1/2</italic> mutations in Korean ovarian cancer patients irrespective of the family history was significantly higher than previously reported. Possible founder mutations in Korean ovarian cancer patients were identified.</p> </sec> </abstract>