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J Korean Cancer Assoc. 1998 Apr;30(2):242-252. Korean. In Vitro.
Won YJ , Oh JH , Kim JH , Noh DY , Choe KJ , Kang SB , Kim LS , Ro MS , Paik NS , Yang DH , Oh SM , Lee SN , Kim KK , Park JG .
Korean Hereditary Tumor Registry, Cancer Research Institute.
Department of Surgery, Seoul National University College of Medicine.
Department of Obstetrics and Gynecology, Seoul National University College of Medicine.
Department of Surgery, Hallym University College of Medicine.
Diamond Breast Clinic.
Department of Surgery, Korea Cancer Center Hospital.
Department of Surgery, Kangnam General Hospital Public Corporation.
Dr. Oh's Breast Clinic.
Department of Internal Medicine, Ehwa Woman's University College of Medicine.
Department of Surgery, College of Medicine, Inha University.

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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