J Korean Cancer Assoc.
1998 Apr;30(2):242-252.
Germline Mutation of BRCA2 Gene in Korean Breast / Ovarian Cancer Families
- Affiliations
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- 1Korean Hereditary Tumor Registry, Cancer Research Institute.
- 2Department of Surgery, Seoul National University College of Medicine.
- 3Department of Obstetrics and Gynecology, Seoul National University College of Medicine.
- 4Department of Surgery, Hallym University College of Medicine.
- 5Diamond Breast Clinic.
- 6Department of Surgery, Korea Cancer Center Hospital.
- 7Department of Surgery, Kangnam General Hospital Public Corporation.
- 8Dr. Oh's Breast Clinic.
- 9Department of Internal Medicine, Ehwa Woman's University College of Medicine.
- 10Department of Surgery, College of Medicine, Inha University.
Abstract
- PURPOSE
Recent discovery of BRCA1 and BRCA2 genes has made it possible to perform presymptomatic diagnosis in hereditary breast/ovarian cancer families. We have previously reported germline mutations of the BRCA1 gene in Korean hereditary breast/ovarian cancer families. In that study two out of 13 families were found to have germline mutations in BRCA1 gene. One was a nonsense mutation in codon 1815, and the other was a frameshift mutation due to 2 base-pair deletion in codon 1701 of BRCA1 gene. This study was intended to identify germline mutations of the BRCA2 gene in Korean breast/ovarian cancer families.
MATERIALS AND METHODS
Peripheral blood DNA was obtained from 10 breast cancer patients registered at the Korean Hereditary Tumor Registry with positive family history of breast and/or ovarian cancer. Exons 11 and 27 of the BRCA2 gene(together accounting for 50% of the coding region of the BRCA2 gene) were amplified by polymerase chain reaction(PCR) and screened for mutations by in vitro transcription/translation method. For confirmation of the mutations, automatic sequencing of the PCR products displaying abnormal truncated protein bands was perfomed. RESULT: We identified an abnormal truncated protein in the exon 11 of the BRCA2 gene from a member of hereditary breast cancer family, SNU-B4. Sequencing analysis revealed a 4 bp deletion in codons 1248-49 of the exon 11, resulting in frameshift that led to premature stop codon and truncation of the protein product.
CONCLUSION
We have identified a germline mutation from a Korean hereditary breast cancer family. So far only one case of the same mutation has been registered in Database of BRCA2 mutation (BIC) by a commercial genetic diagnosis company, Myriad Genetics, Inc. Identification of the germline mutation in BRCA2 gene should aid in the accurate presymptomatic diagnosis of the at-risk members in this family.
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