Ontology highlight
ABSTRACT:
SUBMITTER: Momozawa Y
PROVIDER: S-EPMC6172276 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Momozawa Yukihide Y Iwasaki Yusuke Y Parsons Michael T MT Kamatani Yoichiro Y Takahashi Atsushi A Tamura Chieko C Katagiri Toyomasa T Yoshida Teruhiko T Nakamura Seigo S Sugano Kokichi K Miki Yoshio Y Hirata Makoto M Matsuda Koichi K Spurdle Amanda B AB Kubo Michiaki M
Nature communications 20181004 1
Pathogenic variants in highly penetrant genes are useful for the diagnosis, therapy, and surveillance for hereditary breast cancer. Large-scale studies are needed to inform future testing and variant classification processes in Japanese. We performed a case-control association study for variants in coding regions of 11 hereditary breast cancer genes in 7051 unselected breast cancer patients and 11,241 female controls of Japanese ancestry. Here, we identify 244 germline pathogenic variants. Patho ...[more]