Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.R1160K
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BRCA2

NM_000059.4:p.R1160K

Associated Papers

Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans.

Alonso-Luna O et al.

Molecular Genetics & Genomic Medicine, 2024

38093606 (PubMed )
Supplement: MGG3-12-e2332-s001.xlsx › Index_case_

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Herzog JS et al.

Npj Breast Cancer, 2021

34413315 (PubMed )
Supplement: 41523_2021_317_MOESM1_ESM.xlsx › Table_S3_VUS__n_287_

Genomic characterization of co-existing neoplasia and carcinoma lesions reveals distinct evolutionary paths of gallbladder cancer.

Lin J et al.

Nature Communications, 2021

34362903 (PubMed )
Supplement: 41467_2021_25012_MOESM3_ESM.xlsx › TableS2.SomaticMutations

Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.

Chunn LM et al.

Frontiers in Genetics, 2020

Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Urbina-Jara LK et al.

Genes, 2019

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

Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Fernández-Lopez JC et al.

Human Genomics, 2019

30630528 (PubMed )
Supplement: 40246_2018_188_MOESM3_ESM.xlsx › Hoja1

A Bayesian framework for efficient and accurate variant prediction.

Qian D et al.

Plos One, 2018

30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants

Improved Efficiency and Reliability of NGS Amplicon Sequencing Data Analysis for Genetic Diagnostic Procedures Using AGSA Software.

Poulet A et al.

Biomed Research International, 0

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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."