Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families.
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.
Korean Hereditary Tumor Registry, Laboratory of Cell Biology, Cancer Research Center and Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.
Hio Chung
HC
Kang
Il-Jin
IJ
Kim
Jae-Hyun
JH
Park
Hyuk-Jun
HJ
Kwon
Yong-Jin
YJ
Won
Seung Chul
SC
Heo
Sang-Yon
SY
Lee
Kyung-Hee
KH
Kim
Yong
Y
Shin
Dong Young
DY
Noh
Dae-Hyun
DH
Yang
Kuk Jin
KJ
Choe
Bong Hwa
BH
Lee
Soon Beom
SB
King
Jae-Gahb
JG
Park
D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D005192:Family Health; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007723:Korea; D010051:Ovarian Neoplasms / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational
D019313:BRCA1 Protein; D024682:BRCA2 Protein; D004273:DNA, Neoplasm