title: The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study.
abstract: The primary aim of this study was to estimate the prevalence of BRCA1/2 mutations among familial breast cancer (BC) patients in Korea. We analyzed 775 familial BC patients who were enrolled in the Korean Hereditary Breast Cancer (KOHBRA) study and treated at 36 institutions between May 2007 and May 2010. Patients with familial BC were defined as BC patients with family histories of BC or ovarian cancer (OC) in any relatives. All probands received genetic counseling and BRCA genetic testing was performed after obtaining informed consent. The mean age of BC diagnosis was 43.6 years. The numbers of probands with family histories of BC only and OC only were 682 and 93, respectively. The overall prevalence of the BRCA mutation among familial BC patients was 21.7 % (BRCA1 9.3 % and BRCA2 12.4 %). Subgroup analyses observed prevalences of the BRCA mutation as follows: 19.6 % among patients with BC family history only (BRCA1 7.6 % and BRCA2 12.0 %) and 36.6 % among patients with OC family history only (BRCA1 21.5 % and BRCA2 15.1 %). Most of the subgroups satisfied the 10 % probability criteria to undergo BRCA testing. However, the prevalence of the BRCA mutations among subgroups that had 2 BC patients in a family with both age at diagnosis of more than 50 years old did not reach the 10 % criteria (4.1 %). Korean familial BC patients are good candidates for BRCA testing even when they have family histories of single breast cancers. However, proband age at diagnosis should be carefully considered when selecting patients for testing.
authors.affiliation: Department of Surgery, Kyung Hee University Hospital at Gangdong, Seoul, Korea.
authors.forename: Sang-Ah
authors.initials: SA
authors.lastname: Han
authors.forename: Sung-Won
authors.initials: SW
authors.lastname: Kim
authors.forename: Eunyoung
authors.initials: E
authors.lastname: Kang
authors.forename: Sue K
authors.initials: SK
authors.lastname: Park
authors.forename: Sei-Hyun
authors.initials: SH
authors.lastname: Ahn
authors.forename: Min Hyuk
authors.initials: MH
authors.lastname: Lee
authors.forename: Seok-Jin
authors.initials: SJ
authors.lastname: Nam
authors.forename: Wonshik
authors.initials: W
authors.lastname: Han
authors.forename: Young Tae
authors.initials: YT
authors.lastname: Bae
authors.forename: Hyun-Ah
authors.initials: HA
authors.lastname: Kim
authors.forename: Young Up
authors.initials: YU
authors.lastname: Cho
authors.forename: Myung Chul
authors.initials: MC
authors.lastname: Chang
authors.forename: Nam Sun
authors.initials: NS
authors.lastname: Paik
authors.forename: Ki-Tae
authors.initials: KT
authors.lastname: Hwang
authors.forename: Sei Joong
authors.initials: SJ
authors.lastname: Kim
authors.forename: Dong-Young
authors.initials: DY
authors.lastname: Noh
authors.forename: Doo Ho
authors.initials: DH
authors.lastname: Choi
authors.forename: Woo-Chul
authors.initials: WC
authors.lastname: Noh
authors.forename: Lee Su
authors.initials: LS
authors.lastname: Kim
authors.forename: Ku Sang
authors.initials: KS
authors.lastname: Kim
authors.forename: Young Jin
authors.initials: YJ
authors.lastname: Suh
authors.forename: Jeong Eon
authors.initials: JE
authors.lastname: Lee
authors.forename: Yongsik
authors.initials: Y
authors.lastname: Jung
authors.forename: Byung-In
authors.initials: BI
authors.lastname: Moon
authors.forename: Jung-Hyun
authors.initials: JH
authors.lastname: Yang
authors.forename: Byung Ho
authors.initials: BH
authors.lastname: Son
authors.forename: Cha Kyong
authors.initials: CK
authors.lastname: Yom
authors.forename: Sung Yong
authors.initials: SY
authors.lastname: Kim
authors.forename: Hyde
authors.initials: H
authors.lastname: Lee
authors.forename: Sung Hoo
authors.initials: SH
authors.lastname: Jung
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D056910:Republic of Korea / Q000453:epidemiology; D055815:Young Adult