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Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families

✍ Scribed by Hio Chung Kang; Il-Jin Kim; Jae-Hyun Park; Hyuk-Jun Kwon; Yong-Jin Won; Seung Chul Heo; Sang-Yon Lee; Kyung-Hee Kim; Yong Shin; Dong Young Noh; Dae-Hyun Yang; Kuk Jin Choe; Bong Hwa Lee; Soon Beom King; Jae-Gahb Park

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 140 KB
Volume: 20
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9059

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✦ Synopsis

Germline mutations in the BRCA1 and BRCA2 genes are responsible for the predisposition and development of familial breast and/or ovarian cancer. Most mutations of BRCA1 and BRCA2 associated with breast and/or ovarian cancer result in truncated proteins. To investigate the presence of BRCA1 and BRCA2 germline mutations in Korean breast and/or ovarian cancer families, we screened a total of 27 cases from 21 families including two or more affected first- or second-degree relatives with breast and/or ovarian cancer. PTT, PCR-SSCP, and DHPLC analysis, followed by sequencing were used in the screening process. In nine families, we found BRCA1 and BRCA2 germline mutations that comprised four frameshift mutations and five nonsense mutations. All nine mutations led to premature termination producing shortened proteins. Among the nine mutations, three novel BRCA1 mutations (E1114X, Q1299X, 4159delGA) and two novel BRCA2 mutations (K467X, 8945delAA) were identified in this work.

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