Premium
BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer
Author(s) -
Seo Jae Hong,
Cho DaeYeon,
Ahn SeHyun,
Yoon KyungSik,
Kang ChangSoo,
Cho Hyun Mi,
Lee Hyeon Sook,
Choe Jae Jin,
Choi Cheul Won,
Kim Byung Soo,
Shin Sang Won,
Kim Yeul Hong,
Kim Jun Suk,
Son GilSoo,
Lee JaeBok,
Koo Bum Hwan
Publication year - 2004
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9275
Subject(s) - breast cancer , germline , biology , germline mutation , genetics , missense mutation , genetic counseling , mutation , cancer , genetic testing , coding region , cancer research , gene
Abstract In order to evaluate the role of BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer, 97 patients with sporadic breast cancer were analyzed for mutations in the BRCA1 and BRCA2 coding regions, by using a combination of fluorescent‐conformation sensitive gel electrophoresis (F‐CSGE) and direct sequencing. Fifty‐five distinct sequence variants were detected, which included three pathogenic truncating mutations, 15 missense mutations, 16 polymorphisms, and 21 intronic variants. Twenty‐six of these variants have never been previously reported and may be of Korean‐specific origin. Two pathogenic BRCA1 mutations (c.922_924delinsT, c.5445G>A) and one pathogenic BRCA2 mutation (c.2259delT) were observed, and two of these (BRCA1 c.5445G>A and BRCA2 c.2259delT) are novel. The total prevalence of germline pathogenic mutations in BRCA1 and/or BRCA2 in Korean sporadic breast cancer is estimated to be about 3.1%. Considering that the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of germline BRCA mutations in sporadic breast cancer patients. Further study using a larger sample size is required to determine the merits of genetic diagnosis and counseling in breast cancer patients. © 2004 Wiley‐Liss, Inc.