Varaico: Literature-Extracted Genetic Variants

Gene:RAD51C
Variant:p.R249C
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RAD51C

NM_058216.3:p.R249C

Associated Papers

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › VUS

Integrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.

Arun AS et al.

The Pharmacogenomics Journal, 2025

40044654 (PubMed )
Supplement: 41397_2025_364_MOESM3_ESM.xlsx › Sheet1

Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.

Agaoglu NB et al.

Cancer Medicine, 2024

38308423 (PubMed )
Supplement: CAM4-13-e6852-s005.xlsx › Supp_Table_4

Niraparib for the treatment of metastatic ccRCC in a patient with CDK12 and RAD51C mutations: a case report.

Yue X et al.

Frontiers in Pharmacology, 2024

First-Line Genomic Profiling in Previously Untreated Advanced Solid Tumors for Identification of Targeted Therapy Opportunities.

Matsubara J et al.

Jama Network Open, 2023

37459099 (PubMed )
Supplement: jamanetwopen-e2323336-s002.xlsx › eTable_3

Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.

Prakash R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer.

Lim BWX et al.

Npj Breast Cancer, 2022

35039523 (PubMed )
Supplement: 41523_2021_373_MOESM1_ESM.pdf

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.

Chandrasekaran D et al.

Cancers, 2021

34503154 (PubMed )
Supplement: cancers-13-04344-s001.zip › cancers-1312764-supplementary.pdf

Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.

Gayarre J et al.

British Journal of Cancer, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.

Jønson L et al.

Breast Cancer Research and Treatment, 2016

Genetic testing for RAD51C mutations: in the clinic and community.

Sopik V et al.

Clinical Genetics, 2015

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.

Blanco A et al.

Breast Cancer Research and Treatment, 2014

Germline mutations in RAD51C in Jewish high cancer risk families.

Kushnir A et al.

Breast Cancer Research and Treatment, 2012

Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.

Thompson ER et al.

Human Mutation, 2012

A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families.

Romero A et al.

Breast Cancer Research and Treatment, 2011

Nonsynonymous single nucleotide polymorphisms in DNA damage repair pathways and lung cancer risk.

Tanaka Y et al.

Cancer, 2010

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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."