Publications:

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs876659434

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

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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: A262V

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: BRCA2: 785C>T; A262V

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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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: 785C>T; Ala262Val

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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Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC

Publication Date: 2020-05

Variant appearance in text: BRCA2: 785C>T; Ala262Val; rs876659434

PubMed Link: 31911673

Variant Present in the following documents:

• 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
• 41436_2019_740_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: A262V

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Genetic analysis of microglandular adenosis and acinic cell carcinomas of the breast provides evidence for the existence of a low-grade triple-negative breast neoplasia family.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Geyer, Felipe C FC; Berman, Samuel H SH; Marchiò, Caterina C; Burke, Kathleen A KA; Guerini-Rocco, Elena E; Piscuoglio, Salvatore S; Ng, Charlotte Ky CK; Pareja, Fresia F; Wen, Hannah Y HY; Hodi, Zoltan Z; Schnitt, Stuart J SJ; Rakha, Emad A EA; Ellis, Ian O IO; Norton, Larry L; Weigelt, Britta B; Reis-Filho, Jorge S JS

Publication Date: 2017-01

Variant appearance in text: BRCA2: Ala262Val

PubMed Link: 27713419

Variant Present in the following documents:

• NIHMS807185-supplement-8.pdf

View BVdb publication page

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Preserved genetic diversity in organoids cultured from biopsies of human colorectal cancer metastases.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Weeber, Fleur F; van de Wetering, Marc M; Hoogstraat, Marlous M; Dijkstra, Krijn K KK; Krijgsman, Oscar O; Kuilman, Thomas T; Gadellaa-van Hooijdonk, Christa G M CG; van der Velden, Daphne L DL; Peeper, Daniel S DS; Cuppen, Edwin P J G EP; Vries, Robert G RG; Clevers, Hans H; Voest, Emile E EE

Publication Date: 2015-10-27

Variant appearance in text: BRCA2: A262V

PubMed Link: 26460009

Variant Present in the following documents:

• Main text

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