Correlation between the risk of ovarian cancer and BRCA recurrent pathogenic variants in Japan

• Published in: Journal of human genetics Vol. 67; no. 5; pp. 267 - 272
• Main Authors: Sekine, Masayuki, Enomoto, Takayuki, Arai, Masami, Yokoyama, Shiro, Nomura, Hiroyuki, Nishino, Koji, Ikeuchi, Takeshi, Kuriyama, Yoko, Nakamura, Seigo
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.05.2022
• Subjects: BRCA1 protein; BRCA2 protein; Breast cancer; Genetic screening; Ovarian cancer; Japan

We previously reported that L63X and Q934X are BRCA1 common founder variants in Japan. So far, there have been no reports of a correlation between such BRCA common variants and the risk of BRCA-related cancers. In this analysis, we investigated the correlation between the risk of ovarian cancer (OC)...