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.
Kang
Hio Chung
HC
Korean Hereditary Tumor Registry, Laboratory of Cell Biology, Cancer Research Center and Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.
Kim
Il-Jin
IJ
Park
Jae-Hyun
JH
Kwon
Hyuk-Jun
HJ
Won
Yong-Jin
YJ
Heo
Seung Chul
SC
Lee
Sang-Yon
SY
Kim
Kyung-Hee
KH
Shin
Yong
Y
Noh
Dong Young
DY
Yang
Dae-Hyun
DH
Choe
Kuk Jin
KJ
Lee
Bong Hwa
BH
King
Soon Beom
SB
Park
Jae-Gahb
JG
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