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: K862E

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: K862E

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3

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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: 2584A>G; Lys862Glu

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Mucinous Histology, BRCA1/2 Mutations, and Elevated Tumor Mutational Burden in Colorectal Cancer.

Journal Of Oncology

Harpaz, Noa N; Gatt, Yair Eli YE; Granit, Roy Zvi RZ; Fruchtman, Hila H; Hubert, Ayala A; Grinshpun, Albert A

Publication Date: 2020

Variant appearance in text: BRCA2: 2584A>G

PubMed Link: 32377194

Variant Present in the following documents:

• 6421205.f1.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: K862E

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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Performance of BRCA1/2 mutation prediction models in Asian Americans.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Kurian, Allison W AW; Gong, Gail D GD; Chun, Nicolette M NM; Mills, Meredith A MA; Staton, Ashley D AD; Kingham, Kerry E KE; Crawford, Beth B BB; Lee, Robin R; Chan, Salina S; Donlon, Susan S SS; Ridge, Yolanda Y; Panabaker, Karen K; West, Dee W DW; Whittemore, Alice S AS; Ford, James M JM

Publication Date: 2008-10-10

Variant appearance in text: BRCA2: K862E

PubMed Link: 18779604

Variant Present in the following documents:

• Main text

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