BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations.
We analyzed the mutation spectrum of BRCA1 and BRCA2 genes in 354 Korean breast cancer patients. Overall, 40 patients carried 25 distinct BRCA1/2 mutations including 12 novel mutations. Seven district mutations were found in multiple unrelated patients, with the BRCA2 c.7480C>T mutation detected in eight unrelated patients, accounting for 50% of the mutations detected in BRCA2. The large number (25/40, 62.5%) of recurrent mutations suggests the possibility of developing a simple screening test for these mutations. The frequency of mutations was related to the number and kinds of risk factors, varying from 10.4 to 25% in the five major risk factor groups. The frequency of BRCA mutations in patients with two or more risk factors was markedly higher than that in patients with one risk factor.
Ahn
Sei Hyun
SH
Department of Surgery, College of Medicine, University of Ulsan and Asan Medical Center, Seoul, South Korea.
Son
Byung Ho
BH
Yoon
Kyung-Sik
KS
Noh
Dong-Young
DY
Han
Wonshik
W
Kim
Sung-Won
SW
Lee
Eun Sook
ES
Park
Hai-Lin
HL
Hong
Young Joon
YJ
Choi
Jae Jin
JJ
Moon
Seo Yun
SY
Kim
Mi Jeong
MJ
Kim
Kye Hyun
KH
Kwak
Beom Seok
BS
Cho
Dae-Yeon
DY
D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D015331:Cohort Studies; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005787:Gene Frequency; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D007723:Korea; D016366:Open Reading Frames; D012307:Risk Factors
D019313:BRCA1 Protein; D024682:BRCA2 Protein