@article{0b68a73e435e49c3ad4a08a950dcd823,
title = "The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study",
abstract = "The Korean Hereditary Breast Cancer (KOHBRA) study was established to evaluate the prevalence and spectrum of BRCA1/2 mutations in Korean breast cancer patients at risk for hereditary breast and ovarian cancer. A total of 2953 subjects (2403 index patients and 550 family members of affected carriers) from 36 centers participated in this study between May 2007 and December 2013. All participants received genetic counseling and BRCA genetic testing. In total, 378 mutation carriers among 2403 index patients were identified. The prevalence of BRCA mutations in specific subgroups was as follows: 22.3 % (274/1228) for breast cancer patients with a family history of breast/ovarian cancers, 8.8 % (39/441) for patients with early-onset (<35 years) breast cancer without a family history, 16.3 % (34/209) for patients with bilateral breast cancer, 4.8 % (1/21) for male patients with breast cancer, and 37.5 % (3/8) for patients with both breast and ovarian cancer. From an analysis of the mutation spectrum, 63 BRCA1 and 90 BRCA2 different mutations, including 44 novel mutations, were identified. The c.7480 (p.Arg2494Ter) mutation in BRCA2 (10.1 %) was the most commonly identified in this cohort. The KOHBRA study is the largest cohort to identify BRCA mutation carriers in Asia. The results suggest that the prevalence of BRCA mutations in familial breast cancer patients is similar to that among Western cohorts. However, some single risk factors without family histories (early-onset breast cancer, male breast cancer, or multiple organ cancers) may limit the utility of BRCA gene testing in the Korean population.",
keywords = "BRCA1 genes, BRCA2 genes, Breast neoplasms, Genetic predisposition, Prevalence",
author = "Eunyoung Kang and Seong, {Moon Woo} and Park, {Sue K.} and Lee, {Jong Won} and Jihyoun Lee and Kim, {Lee Su} and Lee, {Jeong Eon} and Kim, {Sung Yong} and Joon Jeong and Han, {Sang Ah} and Kim, {Sung Won} and {Korean Hereditary Breast Cancer Study Group}, {Hereditary Breast Cancer Study Group} and Kwak, {Beom Seok} and Park, {Byeong Woo} and Son, {Byung Ho} and Moon, {Byung In} and Yom, {Cha Kyong} and Park, {Chan Heun} and Yoon, {Chan Seok} and Lee, {Chang Hyun} and Yoon, {Dae Sung} and Noh, {Dong Young} and Choi, {Doo Ho} and Eundeok Chang and Kim, {Eun Kyu} and Eunyoung Kang and Lee, {Hae Kyung} and Park, {Hai Lin} and Hyde Lee and Moon, {Hyeong Gon} and Kim, {Hyun Ah} and Lee, {Il Kyun} and Lee, {Jeong Eon} and Jihyoun Lee and Lee, {Jong Won} and Yu, {Jong Han} and Joon Jeong and Yoon, {Jung Han} and Yang, {Jung Hyun} and Keumhee Kwak and Hwang, {Ki Tae} and Kim, {Ku Sang} and Kim, {Lee Su} and Hur, {Min Hee} and Park, {Min Ho} and Lee, {Min Hyuk} and Chang, {Myung Chul} and Paik, {Nam Sun} and Han, {Sang Ah} and Jung, {Sang Seol} and Woo, {Sang Uk} and Oh, {Se Jeong} and Sehwan Han and Kim, {Sei Joong} and Ahn, {Sei Hyun} and Nam, {Seok Jin} and Ko, {Seung Sang} and Jung, {Sung Hoo} and Kang, {Sung Soo} and Kim, {Sung Yong} and Kim, {Sung Won} and Kim, {Tae Hyun} and Won, {Tae Wan} and Kang, {Tae Woo} and Wonshik Han and Noh, {Woo Chul} and Park, {Yong Lai} and Yongsik Jung and Suh, {Young Jin} and Bae, {Young Tae} and Cho, {Young Up} and Hong, {Young Ik} and Park, {Sue K.} and Jung, {Yoon Joo} and Choi, {Su Yun} and Yoo, {Young Bum} and Lee, {Soo Jung}",
note = "Funding Information: This study was supported by a grant from the National R&D Program for Cancer Control, Ministry for Health, Welfare, and Family Affairs, Republic of Korea (#1020350). We thank all investigators of the KOHBRA study: Beom Seok Kwak, Byeong-Woo Park, Byung Ho Son, Byung-In Moon, Cha Kyong Yom, Chan Heun Park, Chan Seok Yoon, Chang Hyun Lee, Dae Sung Yoon, Dong-Young Noh, Doo Ho Choi, Eundeok Chang, Eun-Kyu Kim, Eunyoung Kang, Hae Kyung Lee, Hai-Lin Park, Hyde Lee, Hyeong-Gon Moon, Hyun-Ah Kim, Il-Kyun Lee, Jeong Eon Lee, Jihyoun Lee, Jong Won Lee, Jong-Han Yu, Joon Jeong, Jung Han Yoon, Jung-Hyun Yang, Keumhee Kwak, Ki-Tae Hwang, Ku Sang Kim, Lee Su Kim, Min Hee Hur, Min Ho Park, Min Hyuk Lee, Myung Chul Chang, Nam Sun Paik, Sang Ah Han, Sang Seol Jung, Sang Uk Woo, Se Jeong Oh, Sehwan Han, Sei Joong Kim, Sei-Hyun Ahn, Seok-Jin Nam, Seung Sang Ko, Sung Hoo Jung, Sung Soo Kang, Sung Yong Kim, Sung-Won Kim, Tae Hyun Kim, Tae Wan Won, Tae Woo Kang, Wonshik Han, Woo-Chul Noh, Yong Lai Park, Yongsik Jung, Young Jin Suh, Young Tae Bae, Young Up Cho, Young-Ik Hong, Sue K. Park, Yoon Joo Jung, Su Yun Choi, Young Bum Yoo, Soo-Jung Lee. Publisher Copyright: {\textcopyright} 2015, Springer Science+Business Media New York.",
year = "2015",
month = may,
day = "1",
doi = "10.1007/s10549-015-3377-4",
language = "English",
volume = "151",
pages = "157--168",
journal = "Breast Cancer Research and Treatment",
issn = "0167-6806",
publisher = "Springer New York",
number = "1",
}