Varaico: Literature-Extracted Genetic Variants

Gene:RAD51C
Variant:p.A126T
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RAD51C

NM_058216.3:p.A126T

Associated Papers

Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.

Ahmad RM et al.

Briefings in Bioinformatics, 2025

41263939 (PubMed )
Supplement: supplementary_materials_bbaf611_1_.zip › Supplementary_materials_bbaf611 › Supplementary_Table_S8.xlsx › Sheet1

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

Genetic Features of Tumours Arising in the Context of Suspected Hereditary Cancer Syndromes with RAD50, RAD51C/D, and BRIP1 Germline Mutations, Results of NGS-Reanalysis of BRCA/MMR-Negative Families.

Arranz-Ledo M et al.

Genes, 2025

40282418 (PubMed )
Supplement: genes-16-00458-s001.zip › genes-3555243-supplementary.xlsx › Hoja2

Alterations in DNA Damage Repair Genes Before and After Neoadjuvant Cisplatin-based Chemotherapy in Muscle-invasive Bladder Cancer.

Lemberger U et al.

European Urology Open Science, 2025

39717660 (PubMed )
Supplement: mmc4.xlsx › Raw_data

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants

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_15

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S2

Hot on RAD51C: structure and functions of RAD51C-XRCC3.

Szakal B et al.

Molecular Oncology, 2023

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

RAD51C-XRCC3 structure and cancer patient mutations define DNA replication roles.

Longo MA et al.

Nature Communications, 2023

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

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

A decade of RAD51C and RAD51D germline variants in cancer.

Boni J et al.

Human Mutation, 2022

Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation.

Çakır AY et al.

Turkish Journal of Medical Sciences, 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

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

Wagener R et al.

European Journal of Human Genetics : Ejhg, 2021

33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.

Guglielmi C et al.

International Journal of Molecular Sciences, 2021

34299313 (PubMed )
Supplement: ijms-22-07693-s001.zip › ijms-1277723-supplementary.pdf

Long-term survival of an ovarian cancer patient harboring a RAD51C missense mutation.

Sullivan MR et al.

Cold Spring Harbor Molecular Case Studies, 2021

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

Pearlman R et al.

Jco Precision Oncology, 2021

Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Bishop MR et al.

Plos One, 2020

32866190 (PubMed )
Supplement: pone.0238295.s002.xlsx › S2_Table

Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Jarhelle E et al.

Scientific Reports, 2019

31882575 (PubMed )
Supplement: 41598_2019_55515_MOESM1_ESM.pdf

Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.

Maung KZY et al.

Blood Cancer Journal, 2018

29891941 (PubMed )
Supplement: 41408_2018_90_MOESM1_ESM.docx

Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).

Sánchez-Bermúdez AI et al.

European Journal of Medical Genetics, 2018

Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.

Torrezan GT et al.

Frontiers in Genetics, 2018

29868112 (PubMed )
Supplement: Table_1.DOCX

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

Next-generation sequencing in familial breast cancer patients from Lebanon.

Jalkh N et al.

Bmc Medical Genomics, 2017

Multiple primary tumors in a family with Li-Fraumeni syndrome with a TP53 germline mutation identified by next-generation sequencing.

Zampiga V et al.

The International Journal of Biological Markers, 2016

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

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

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 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

Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan.

Rashid MU et al.

Breast Cancer Research and Treatment, 2014

RAD51C--a new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC).

Scheckenbach K et al.

Oral Oncology, 2014

Germline mutation in the RAD51B gene confers predisposition to breast cancer.

Golmard L et al.

Bmc Cancer, 2013

24139550 (PubMed )
Supplement: 1471-2407-13-484-S3.docx

Germline RAD51C mutations in ovarian cancer susceptibility.

Coulet F et al.

Clinical Genetics, 2013

Germline mutations in RAD51C in Jewish high cancer risk families.

Kushnir A et al.

Breast Cancer Research and Treatment, 2012

Mutation screening of RAD51C in high-risk breast and ovarian cancer families.

Lu W et al.

Familial Cancer, 2012

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.

Osorio A et al.

Human Molecular Genetics, 2012

Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.

De Leeneer K 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

Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility.

Vuorela M et al.

Breast Cancer Research and Treatment, 2011

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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."