Publications:

Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports

Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB

Publication Date: 2022-06-21

Variant appearance in text: BRCA1: R691G

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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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: BRCA1: 2071A>G; Arg691Gly

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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Co-occurring Alterations in the RAS-MAPK Pathway Limit Response to MET Inhibitor Treatment in MET Exon 14 Skipping Mutation-Positive Lung Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Rotow, Julia K JK; Gui, Philippe P; Wu, Wei W; Raymond, Victoria M VM; Lanman, Richard B RB; Kaye, Frederic J FJ; Peled, Nir N; Fece de la Cruz, Ferran F; Nadres, Brandon B; Corcoran, Ryan B RB; Yeh, Iwei I; Bastian, Boris C BC; Starostik, Petr P; Newsom, Kimberly K; Olivas, Victor R VR; Wolff, Alexander M AM; Fraser, James S JS; Collisson, Eric A EA; McCoach, Caroline E CE; Camidge, D Ross DR; Pacheco, Jose J; Bazhenova, Lyudmila L; Li, Tianhong T; Bivona, Trever G TG; Blakely, Collin M CM

Publication Date: 2020-01-15

Variant appearance in text: BRCA1: R691G

PubMed Link: 31548343

Variant Present in the following documents:

• Main text

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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

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

Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ

Publication Date: 2019-01

Variant appearance in text: BRCA1: R691G

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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