Publications:

Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer

Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ

Publication Date: 2020

Variant appearance in text: BRCA2: 4171G>T; Glu1391X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene.

Plos Genetics

Wong, Cavin C; Chen, Fei F; Alirezaie, Najmeh N; Wang, Yifan Y; Cuggia, Adeline A; Borgida, Ayelet A; Holter, Spring S; Lenko, Tatiana T; Domecq, Celine C; , ; Petersen, Gloria M GM; Syngal, Sapna S; Brand, Randall R; Rustgi, Anil K AK; Cote, Michele L ML; Stoffel, Elena E; Olson, Sara H SH; Roberts, Nicholas J NJ; Akbari, Mohammad R MR; Majewski, Jacek J; Klein, Alison P AP; Greenwood, Celia M T CMT; Gallinger, Steven S; Zogopoulos, George G

Publication Date: 2019-08

Variant appearance in text: BRCA2: 4171G>T; E1391X

PubMed Link: 31469826

Variant Present in the following documents:

• Main text
• pgen.1008344.pdf

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