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: G200A

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: 599G>C; Gly200Ala

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: G200A

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.

Leukemia

Bouska, A A; Zhang, W W; Gong, Q Q; Iqbal, J J; Scuto, A A; Vose, J J; Ludvigsen, M M; Fu, K K; Weisenburger, D D DD; Greiner, T C TC; Gascoyne, R D RD; Rosenwald, A A; Ott, G G; Campo, E E; Rimsza, L M LM; Delabie, J J; Jaffe, E S ES; Braziel, R M RM; Connors, J M JM; Wu, C-I CI; Staudt, L M LM; D'Amore, F F; McKeithan, T W TW; Chan, W C WC

Publication Date: 2017-01

Variant appearance in text: BRCA1: G200A

PubMed Link: 27389057

Variant Present in the following documents:

• NIHMS790817-supplement-6.xlsx, sheet 1

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In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

Bmc Genomics

Lastella, Patrizia P; Surdo, Nicoletta Concetta NC; Resta, Nicoletta N; Guanti, Ginevra G; Stella, Alessandro A

Publication Date: 2006-09-22

Variant appearance in text: BRCA1: G200A

PubMed Link: 16995940

Variant Present in the following documents:

• Main text
• 1471-2164-7-243.pdf

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