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Article

Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).

PloS one - 1 Jan 2021

Tokunaga Hideki, Iida Keita, Hozawa Atsushi, Ogishima Soichi, Watanabe Yoh, Shigeta Shogo, Shimada Muneaki, Yamaguchi-Kabata Yumi, Tadaka Shu, Katsuoka Fumiki, Ito Shin, Kumada Kazuki, Hamanaka Yohei, Fuse Nobuo, Kinoshita Kengo, Yamamoto Masayuki, Yaegashi Nobuo, Yasuda Jun

Abstract excerpt

Identification of the population frequencies of definitely pathogenic germline variants in two major hereditary breast and ovarian cancer syndrome (HBOC) genes, BRCA1/2, is essential to estimate the number of HBOC patients. In addition, the identification of moderately penetrant HBOC gene variants that contribute to increasing the risk of breast and ovarian cancers in a population is critical to establish...

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Identifiers

PMID: 33428613
DOI: 10.1371/journal.pone.0236907
PMCID: PMC7799847

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