Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E832K
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BRCA2

NM_000059.4:p.E832K

Associated Papers

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc5.xlsx › nSMs

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S11-final_16052022.xlsx › Table_S11B

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

Multigene Panel Testing for Hereditary Cancer and Genetic Counseling.

Lee ES et al.

Advances in Experimental Medicine and Biology, 2021

Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Sun P et al.

Bmc Cancer, 2020

Immunogenicity and Immune Silence in Human Cancer.

Yarmarkovich M et al.

Frontiers in Immunology, 2020

32256484 (PubMed )
Supplement: Table_4.XLSX › TCGA_HLAs_and_mutations

Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.

Wong K et al.

Nature Communications, 2019

30664638 (PubMed )
Supplement: 41467_2018_8081_MOESM5_ESM.xlsx › Equine-all_other

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect.

Corso G et al.

Journal of Medical Genetics, 2018

Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.

Shindo K et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2017

CDH1 germline mutations and hereditary lobular breast cancer.

Corso G et al.

Familial Cancer, 2016

Genetics, pathology, and clinics of familial gastric cancer.

Oliveira C et al.

International Journal of Surgical Pathology, 2006

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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."