Germline Mutation of BRCA2 Gene in Korean Breast / Ovarian Cancer Families.
- Author:
Yong Jin WON
1
;
Jae Hwan OH
;
Ji Hyun KIM
;
Dong Young NOH
;
Kuk Jin CHOE
;
Soon Beom KANG
;
Lee Su KIM
;
Man Su RO
;
Nam Sun PAIK
;
Dae Hyun YANG
;
Se Min OH
;
Soon Nam LEE
;
Kyung Kook KIM
;
Jae Gahb PARK
Author Information
1. Korean Hereditary Tumor Registry, Cancer Research Institute.
- Publication Type:In Vitro ; Original Article
- Keywords:
BRCA2 gene;
Protein truncation test(PTT);
Germline mutation
- MeSH:
Breast Neoplasms;
Breast*;
Clinical Coding;
Codon;
Codon, Nonsense;
Diagnosis;
DNA;
Exons;
Frameshift Mutation;
Genes, BRCA1;
Genes, BRCA2*;
Genetics;
Germ-Line Mutation*;
Humans;
Ovarian Neoplasms*;
Polymerase Chain Reaction
- From:Journal of the Korean Cancer Association
1998;30(2):242-252
- CountryRepublic of Korea
- Language:Korean
-
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.
