Publications:

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

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

Publication Date: 2018-10-04

Variant appearance in text: BRCA2: Thr1154Thr; rs4986856

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA2: 3462C>T; Thr1154=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Occupational solvent exposure, genetic variation of DNA repair genes, and the risk of non-Hodgkin's lymphoma.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)

Jiao, Jie J; Zheng, Tongzhang T; Lan, Qing Q; Chen, Yingtai Y; Deng, Qian Q; Bi, Xiaofeng X; Kim, Christopher C; Holford, Theodore T; Leaderer, Brian B; Boyle, Peter P; Ba, Yue Y; Xia, Zhaolin Z; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y

Publication Date: 2012-11

Variant appearance in text: rs4986856

PubMed Link: 22430443

Variant Present in the following documents:

• Main text

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Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.

European Journal Of Human Genetics : Ejhg

Caux-Moncoutier, Virginie V; Pagès-Berhouet, Sabine S; Michaux, Dorothée D; Asselain, Bernard B; Castéra, Laurent L; De Pauw, Antoine A; Buecher, Bruno B; Gauthier-Villars, Marion M; Stoppa-Lyonnet, Dominique D; Houdayer, Claude C

Publication Date: 2009-11

Variant appearance in text: BRCA2: 3462C>T; Thr1154Thr

PubMed Link: 19471317

Variant Present in the following documents:

• Main text

View BVdb publication page