Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.L574M
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BRCA2

NM_000059.4:p.L574M

Associated Papers

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Iversen ES et al.

Npj Genomic Medicine, 2022

35665744 (PubMed )
Supplement: 41525_2022_302_MOESM3_ESM.xlsx › BRCA1_inSilico_PCs___AGVGD

Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.

Thouvenot P et al.

Plos Genetics, 2016

27272900 (PubMed )
Supplement: pgen.1006096.s001.pdf

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

Damiola F et al.

Breast Cancer Research : Bcr, 2014

24894818 (PubMed )
Supplement: bcr3669-S1.xlsx › MRN_Combi_Rare__0.1__

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

Iversen ES et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2011

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

Lee MS et al.

Cancer Research, 2010

Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

Lee E et al.

Breast Cancer Research : Bcr, 2008

18284688 (PubMed )
Supplement: bcr1865-S3.doc

BRCA1 variants in a family study of African-American and Latina women.

McKean-Cowdin R et al.

Human Genetics, 2005

Spanish family study on hereditary breast and/or ovarian cancer: analysis of the BRCA1 gene.

de la Hoya M et al.

International Journal of Cancer, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."