Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.R731G
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BARD1

NM_000465.4:p.R731G

Associated Papers

Germline BARD1 variants predispose to mesothelioma by impairing DNA repair and calcium signaling.

Novelli F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38990952 (PubMed )
Supplement: pnas.2405231121.sapp.pdf

Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.

Manotas MC et al.

Molecular Genetics & Genomic Medicine, 2023

36905130 (PubMed )
Supplement: MGG3-11-e2141-s002.xlsx › VUS_Reclassified

Enrichment of "Cribriform" morphologies (intraductal and cribriform adenocarcinoma) and genomic alterations in radiorecurrent prostate cancer.

Shah RB et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

Hereditary variants of unknown significance in African American women with breast cancer.

McDonald JT et al.

Plos One, 2022

36315513 (PubMed )
Supplement: pone.0273835.s001.xlsx › ConsensusScores

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y et al.

Scientific Reports, 2019

31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1

Functional analysis of clinical BARD1 germline variants.

Toh MR et al.

Cold Spring Harbor Molecular Case Studies, 2019

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Harrison SM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28301460 (PubMed )
Supplement: NIHMS853375-supplement-Supplemental_Table_4__Consensus_classifications_for_all_211_resolved_variants.xlsx › Supplemental_Table_4

Multigene testing of moderate-risk genes: be mindful of the missense.

Young EL et al.

Journal of Medical Genetics, 2016

26787654 (PubMed )
Supplement: jmedgenet-2015-103398-s2.pdf

Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks.

Lee C et al.

Human Mutation, 2015

Identification of functional SNPs in BARD1 gene and in silico analysis of damaging SNPs: based on data procured from dbSNP database.

Alshatwi AA et al.

Plos One, 2012

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