Publications:

Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: BRCA2: 2412A>G

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

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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: 2412A>G; Glu804=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Novel insulin receptor substrate 1 and 2 variants in breast and colorectal cancer.

Oncology Reports

Esposito, Diana Liberata DL; Verginelli, Fabio F; Toracchio, Sonia S; Mammarella, Sandra S; De Lellis, Laura L; Vanni, Cinzia C; Russo, Antonio A; Mariani-Costantini, Renato R; Cama, Alessandro A

Publication Date: 2013-10

Variant appearance in text: BRCA2: 2412A>G

PubMed Link: 23877285

Variant Present in the following documents:

• Main text
• or-30-04-1553.pdf

View BVdb publication page