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BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer

✍ Scribed by Jae Hong Seo; Dae-Yeon Cho; Se-Hyun Ahn; Kyung-Sik Yoon; Chang-Soo Kang; Hyun Mi Cho; Hyeon Sook Lee; Jae Jin Choe; Cheul Won Choi; Byung Soo Kim; Sang Won Shin; Yeul Hong Kim; Jun Suk Kim; Gil-Soo Son; Jae-Bok Lee; Bum Hwan Koo

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 93 KB
Volume: 24
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9275

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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