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

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 t...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7799847/
https://www.ncbi.nlm.nih.gov/pubmed/33428613
http://dx.doi.org/10.1371/journal.pone.0236907

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