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: rs80357332

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 2

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: rs80357332

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Scientific Reports

Nepomuceno, Thales C TC; Dos Santos, Ana P P APP; Fernandes, Vanessa C VC; Elias, Anna B R ABR; Gomes, Thiago T TT; Suarez-Kurtz, Guilherme G; Iversen, Edwin S ES; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA; Carvalho, Marcelo A MA

Publication Date: 2022-09-28

Variant appearance in text: BRCA1: Q1826H

PubMed Link: 36171434

Variant Present in the following documents:

• Main text
• 41598_2022_Article_20500.pdf
• 41598_2022_20500_MOESM1_ESM.pdf

View BVdb publication page

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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: BRCA1: Q1826H

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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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

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

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: BRCA1: 5478G>T; Q1826H

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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: BRCA1: 5478G>T; Gln1826His; rs80357332

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: BRCA1: 5478G>T; Gln1826His

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: BRCA1: 5478G>T; Gln1826His; rs80357332

PubMed Link: 31911673

Variant Present in the following documents:

• 41436_2019_740_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Accurate classification of BRCA1 variants with saturation genome editing.

Nature

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J

Publication Date: 2018-10

Variant appearance in text: BRCA1: 5478G>T; Q1826H

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

View BVdb publication page

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A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Iversen, Edwin S ES; Couch, Fergus J FJ; Goldgar, David E DE; Tavtigian, Sean V SV; Monteiro, Alvaro N A AN

Publication Date: 2011-06

Variant appearance in text: BRCA1: Q1826H

PubMed Link: 21447777

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

Cancer Research

Lee, Megan S MS; Green, Ruth R; Marsillac, Sylvia M SM; Coquelle, Nicolas N; Williams, R Scott RS; Yeung, Telford T; Foo, Desmond D; Hau, D Duong DD; Hui, Ben B; Monteiro, Alvaro N A AN; Glover, J N Mark JN

Publication Date: 2010-06-15

Variant appearance in text: BRCA1: Q1826H

PubMed Link: 20516115

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.

Mutation Research

Carvalho, Marcelo M; Pino, Maria A MA; Karchin, Rachel R; Beddor, Jennifer J; Godinho-Netto, Martha M; Mesquita, Rafael D RD; Rodarte, Renato S RS; Vaz, Danielle C DC; Monteiro, Viviane A VA; Manoukian, Siranoush S; Colombo, Mara M; Ripamonti, Carla B CB; Rosenquist, Richard R; Suthers, Graeme G; Borg, Ake A; Radice, Paolo P; Grist, Scott A SA; Monteiro, Alvaro N A AN; Billack, Blase B

Publication Date: 2009-01-15

Variant appearance in text: BRCA1: Q1826H

PubMed Link: 18992264

Variant Present in the following documents:

• Main text

View BVdb publication page

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