Publications:

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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: S267A

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: 799T>G; Ser267Ala

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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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: S267A

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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Synthetic viability genomic screening defines Sae2 function in DNA repair.

The Embo Journal

Puddu, Fabio F; Oelschlaegel, Tobias T; Guerini, Ilaria I; Geisler, Nicola J NJ; Niu, Hengyao H; Herzog, Mareike M; Salguero, Israel I; Ochoa-Montaño, Bernardo B; Viré, Emmanuelle E; Sung, Patrick P; Adams, David J DJ; Keane, Thomas M TM; Jackson, Stephen P SP

Publication Date: 2015-06-03

Variant appearance in text: BRCA1: S267A

PubMed Link: 25899817

Variant Present in the following documents:

• Main text
• embj0034-1509.pdf

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End resection at double-strand breaks: mechanism and regulation.

Cold Spring Harbor Perspectives In Biology

Symington, Lorraine S LS

Publication Date: 2014-08-01

Variant appearance in text: BRCA1: S267A

PubMed Link: 25085909

Variant Present in the following documents:

• Main text

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Collaboration and competition between DNA double-strand break repair pathways.

Febs Letters

Kass, Elizabeth M EM; Jasin, Maria M

Publication Date: 2010-09-10

Variant appearance in text: BRCA1: S267A

PubMed Link: 20691183

Variant Present in the following documents:

• Main text

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Human CtIP mediates cell cycle control of DNA end resection and double strand break repair.

The Journal Of Biological Chemistry

Huertas, Pablo P; Jackson, Stephen P SP

Publication Date: 2009-04-03

Variant appearance in text: BRCA1: S267A

PubMed Link: 19202191

Variant Present in the following documents:

• Main text
• 9558.pdf

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