BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts
Joo-Yeon Lee, Jisun Kim, Sung-Won Kim, Sue K Park, Sei Hyun Ahn, Min Hyuk Lee, Young Jin Suh, Dong-Young Noh, Byung Ho Son, Young Up Cho, Sae Byul Lee, Jong Won Lee, John L Hopper, Joohon Sung
Scientific Reports | NATURE PUBLISHING GROUP | Published : 2018
"BRCAX" refers breast cancers occurring in women with a family history predictive of being a BRCA1/2 mutation carrier, but BRCA1/2 genetic screening has failed to find causal mutations. In this study, we report the findings of the genetic architecture of BRCAX with novel and redefined candidate loci and their potential impacts on preventive strategy. We performed a genome-wide association study involving 1,469 BRCAX cases from the Korean Hereditary Breast Cancer study, and high-risk breast cancer cases (1,482 Asians and 9,902 Europeans) from the Breast Cancer Association Consortium. We also evaluated the previously reported susceptibility loci for their roles in the high-risk breast cancers...View full abstract
Awarded by Post-Genome Technology Development Program - Ministry of Trade, Industry and Energy (MOTIE), Republic of Korea
Awarded by Asan Institute for Life Science, Asan Medical Center, Seoul, Republic of Korea
Awarded by National R&D Program for Cancer Control, Ministry for Health and Welfare, Republic of Korea
This work was supported by the Post-Genome Technology Development Program (10050164, Developing Korean Reference Genome) funded by the Ministry of Trade, Industry and Energy (MOTIE), Republic of Korea. This study was also funded by a grant (grant no. 2012-0510/2013-0510) from the Asan Institute for Life Science, Asan Medical Center, Seoul, Republic of Korea and supported by a grant from the National R&D Program for Cancer Control, Ministry for Health and Welfare, Republic of Korea (No. 1020350). We thank the BCAC and KoGES consortium for access to the data. Also, 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 Yo on, 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 Cho i, Young Bum Yoo, and Soo-Jung Lee.