BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.
In order to evaluate the role of BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer, 97 patients with sporadic breast cancer were analyzed for mutations in the BRCA1 and BRCA2 coding regions, by using a combination of fluorescent-conformation sensitive gel electrophoresis (F-CSGE) and direct sequencing. Fifty-five distinct sequence variants were detected, which included three pathogenic truncating mutations, 15 missense mutations, 16 polymorphisms, and 21 intronic variants. Twenty-six of these variants have never been previously reported and may be of Korean-specific origin. Two pathogenic BRCA1 mutations (c.922_924delinsT, c.5445G>A) and one pathogenic BRCA2 mutation (c.2259delT) were observed, and two of these (BRCA1 c.5445G>A and BRCA2 c.2259delT) are novel. The total prevalence of germline pathogenic mutations in BRCA1 and/or BRCA2 in Korean sporadic breast cancer is estimated to be about 3.1%. Considering that the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of germline BRCA mutations in sporadic breast cancer patients. Further study using a larger sample size is required to determine the merits of genetic diagnosis and counseling in breast cancer patients.
Seo
Jae Hong
JH
Department of Internal Medicine, Division of Hematology/Oncology, College of Medicine, Korea University, Seoul, Korea.
Cho
Dae-Yeon
DY
Ahn
Se-Hyun
SH
Yoon
Kyung-Sik
KS
Kang
Chang-Soo
CS
Cho
Hyun Mi
HM
Lee
Hyeon Sook
HS
Choe
Jae Jin
JJ
Choi
Cheul Won
CW
Kim
Byung Soo
BS
Shin
Sang Won
SW
Kim
Yeul Hong
YH
Kim
Jun Suk
JS
Son
Gil-Soo
GS
Lee
Jae-Bok
JB
Koo
Bum Hwan
BH
D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D018270:Carcinoma, Ductal, Breast / Q000453:epidemiology / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D004273:DNA, Neoplasm / Q000235:genetics; D030541:Databases, Genetic; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D016368:Frameshift Mutation; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D014644:Genetic Variation; D018095:Germ-Line Mutation; D020180:Heteroduplex Analysis; D006801:Humans; D007438:Introns / Q000235:genetics; D007723:Korea / Q000453:epidemiology; D008875:Middle Aged; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
D004273:DNA, Neoplasm