Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.A1797G
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BRCA2

NM_000059.4:p.A1797G

Associated Papers

Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.

Fortuno C et al.

European Journal of Human Genetics : Ejhg, 2024

39402389 (PubMed )
Supplement: 41431_2024_1705_MOESM2_ESM.xlsx › BRCA2

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S16

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.

Patruno M et al.

Cancers, 2021

34572941 (PubMed )
Supplement: cancers-13-04714-s001.zip › cancers-1331888-supplementary.pdf

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31853058 (PubMed )
Supplement: 41436_2019_729_MOESM3_ESM.xls › Sheet1

Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?

Zuntini R et al.

Frontiers in Genetics, 2018

Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

He KY et al.

Plos One, 2016

27930734 (PubMed )
Supplement: pone.0167847.s002.xls › S2
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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."