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: Q975R

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: 2924A>G; Gln975Arg

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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Inference of transcription factor binding from cell-free DNA enables tumor subtype prediction and early detection.

Nature Communications

Ulz, Peter P; Perakis, Samantha S; Zhou, Qing Q; Moser, Tina T; Belic, Jelena J; Lazzeri, Isaac I; Wölfler, Albert A; Zebisch, Armin A; Gerger, Armin A; Pristauz, Gunda G; Petru, Edgar E; White, Brandon B; Roberts, Charles E S CES; John, John St JS; Schimek, Michael G MG; Geigl, Jochen B JB; Bauernhofer, Thomas T; Sill, Heinz H; Bock, Christoph C; Heitzer, Ellen E; Speicher, Michael R MR

Publication Date: 2019-10-11

Variant appearance in text: BRCA1: Q975R

PubMed Link: 31604930

Variant Present in the following documents:

• Main text
• 41467_2019_Article_12714.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: Q975R

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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