Varaico: Literature-Extracted Genetic Variants

Gene:RAD51C
Variant:p.L262V
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RAD51C

NM_058216.3:p.L262V

Associated Papers

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Drost M et al.

Hgg Advances, 2026

40988334 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Comprehensive RAD51C ovarian cancer variant analysis uncouples homologous recombination and replicative functions.

Rein HL et al.

Nature Communications, 2025

40670332 (PubMed )
Supplement: 41467_2025_61283_MOESM3_ESM.xlsx › Sheet1

High-resolution functional mapping of RAD51C by saturation genome editing.

Olvera-León R et al.

Cell, 2024

Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.

Han SH et al.

European Urology Open Science, 2024

38496821 (PubMed )
Supplement: mmc2.xlsx › Table_S13

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_5

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.

Hu C et al.

Cancer Research, 2023

Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.

Han S et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36712083 (PubMed )
Supplement: media-1.xlsx › eTable.12

Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.

Pereira JZ et al.

Molecular Biology Reports, 2022

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

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

TAPES: A tool for assessment and prioritisation in exome studies.

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel

CharGer: clinical Characterization of Germline variants.

Scott AD et al.

Bioinformatics (oxford, England), 2019

30102335 (PubMed )
Supplement: bioinformatics_35_5_865_s4.xlsx › SupplTable2

Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML.

Przychodzen B et al.

Oncotarget, 2018

29416752 (PubMed )
Supplement: oncotarget-09-2050-s003.xlsx › Sheet1

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

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

Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

Song H et al.

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

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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."