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: BRCA2: V2179A

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.

Therapeutic Advances In Medical Oncology

Scheipl, Susanne S; Brcic, Iva I; Moser, Tina T; Fischerauer, Stefan S; Riedl, Jakob J; Bergovec, Marko M; Smolle, Maria M; Posch, Florian F; Gerger, Armin A; Pichler, Martin M; Stoeger, Herbert H; Leithner, Andreas A; Heitzer, Ellen E; Liegl-Atzwanger, Bernadette B; Szkandera, Joanna J

Publication Date: 2021

Variant appearance in text: BRCA2: V2179A

PubMed Link: 34367342

Variant Present in the following documents:

• sj-xlsx-1-tam-10.1177_17588359211029125.xlsx, sheet 1

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: FANCD1: V2179A

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

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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: 6536T>C; Val2179Ala

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: V2179A

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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Identification of molecular pathway aberrations in uterine serous carcinoma by genome-wide analyses.

Journal Of The National Cancer Institute

Kuhn, Elisabetta E; Wu, Ren-Chin RC; Guan, Bin B; Wu, Gang G; Zhang, Jinghui J; Wang, Yue Y; Song, Lei L; Yuan, Xiguo X; Wei, Lei L; Roden, Richard B S RB; Kuo, Kuan-Tin KT; Nakayama, Kentaro K; Clarke, Blaise B; Shaw, Patricia P; Olvera, Narciso N; Kurman, Robert J RJ; Levine, Douglas A DA; Wang, Tian-Li TL; Shih, Ie-Ming IeM

Publication Date: 2012-10-03

Variant appearance in text: BRCA2: 6536T>C; V2179A

PubMed Link: 22923510

Variant Present in the following documents:

• Main text

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