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: BRCA2: L1114V

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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Validation of an NGS Panel Designed for Detection of Actionable Mutations in Tumors Common in Latin America.

Journal Of Personalized Medicine

Salvo, Mauricio M; González-Feliú, Evelin E; Toro, Jessica J; Gallegos, Iván I; Maureira, Ignacio I; Miranda-González, Nicolás N; Barajas, Olga O; Bustamante, Eva E; Ahumada, Mónica M; Colombo, Alicia A; Armisén, Ricardo R; Villamán, Camilo C; Ibañez, Carolina C; Bravo, María Loreto ML; Sanhueza, Verónica V; Spencer, M Loreto ML; de Toro, Gonzalo G; Morales, Erik E; Bizama, Carolina C; García, Patricia P; Carrasco, Ana María AM; Gutiérrez, Lorena L; Bermejo, Justo Lorenzo JL; Verdugo, Ricardo A RA; Marcelain, Katherine K

Publication Date: 2021-09-08

Variant appearance in text: BRCA2: L1114V

PubMed Link: 34575676

Variant Present in the following documents:

• Main text
• jpm-11-00899.pdf

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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: BRCA2: 3340C>G; Leu1114Val

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: BRCA2: L1114V

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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