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: E255Q

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: 763G>C; Glu255Gln

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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A community-based lung cancer rapid tissue donation protocol provides high-quality drug-resistant specimens for proteogenomic analyses.

Cancer Medicine

Boyle, Theresa A TA; Quinn, Gwendolyn P GP; Schabath, Matthew B MB; Muñoz-Antonia, Teresita T; Saller, James J JJ; Duarte, Luisa F LF; Hair, Laura S LS; Teer, Jamie K JK; Chiang, Derek Y DY; Leary, Rebecca R; Wong, Connie C CC; Savchenko, Alexander A; Singh, Angad P AP; Charette, LaSalette L; Mendell, Kate K; Gorgun, Gullu G; Antonia, Scott J SJ; Chiappori, Alberto A AA; Creelan, Benjamin C BC; Gray, Jhanelle E JE; Haura, Eric B EB

Publication Date: 2020-01

Variant appearance in text: BRCA1: E255Q

PubMed Link: 31747139

Variant Present in the following documents:

• CAM4-9-225-s002.pdf

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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: E255Q

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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