Publications:

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

Plos One

Tokunaga, Hideki H; Iida, Keita K; Hozawa, Atsushi A; Ogishima, Soichi S; Watanabe, Yoh Y; Shigeta, Shogo S; Shimada, Muneaki M; Yamaguchi-Kabata, Yumi Y; Tadaka, Shu S; Katsuoka, Fumiki F; Ito, Shin S; Kumada, Kazuki K; Hamanaka, Yohei Y; Fuse, Nobuo N; Kinoshita, Kengo K; Yamamoto, Masayuki M; Yaegashi, Nobuo N; Yasuda, Jun J

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 33428613

Variant Present in the following documents:

View BVdb publication page

Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: BRCA1: Q1779fs

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-15.xlsx, sheet 1
• NIHMS551112-supplement-6.xlsx, sheet 1
• NIHMS551112-supplement-13.xlsx, sheet 1

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Integrated genomic analyses of ovarian carcinoma.

Nature

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Publication Date: 2011-06-29

Variant appearance in text: N/A

PubMed Link: 21720365

Variant Present in the following documents:

View BVdb publication page