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Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families
Author(s) -
Kang Hio Chung,
Kim IlJin,
Park JaeHyun,
Kwon HyukJun,
Won YongJin,
Heo Seung Chul,
Lee SangYon,
Kim KyungHee,
Shin Yong,
Noh Dong Young,
Yang DaeHyun,
Choe Kuk Jin,
Lee Bong Hwa,
King Soon Beom,
Park JaeGahb
Publication year - 2002
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.9059
Subject(s) - frameshift mutation , biology , ovarian cancer , germline mutation , germline , breast cancer , genetics , nonsense mutation , brca2 protein , mutation , cancer , cancer research , gene , missense mutation
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. © 2002 Wiley‐Liss, Inc.