Varaico: Literature-Extracted Genetic Variants

Gene:RAD51C
Variant:p.A279_V280Splc
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RAD51C

NM_058216.3:p.A279_V280Splc

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Ngeow J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.

Nurmi AK et al.

Cancers, 2022

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3B

Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C.

Sanoguera-Miralles L et al.

Cancers, 2022

35740625 (PubMed )
Supplement: cancers-14-02960-s001.zip › Supplementary_Table_S1-Bioinformatics_analysis_ClinVar.pdf

A decade of RAD51C and RAD51D germline variants in cancer.

Boni J et al.

Human Mutation, 2022

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.

Sanoguera-Miralles L et al.

Cancers, 2020

Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.

Yang X et al.

Journal of the National Cancer Institute, 2020

32107557 (PubMed )
Supplement: djaa030_supplementary_data.pdf

BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.

Suszynska M et al.

Journal of Ovarian Research, 2020

A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.

Dawson LM et al.

Molecular Genetics & Genomic Medicine, 2020

Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.

Nurmi A et al.

International Journal of Cancer, 2019

Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.

Pelttari LM et al.

Clinical Genetics, 2018

CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.

Hallamies S et al.

Bmc Cancer, 2017

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

Sopik V et al.

Clinical Genetics, 2015

Gene analysis techniques and susceptibility gene discovery in non-BRCA1/BRCA2 familial breast cancer.

Aloraifi F et al.

Surgical Oncology, 2015

Screening of Finnish RAD51C founder mutations in prostate and colorectal cancer patients.

Pelttari LM et al.

Bmc Cancer, 2012

RAD51C is a susceptibility gene for ovarian cancer.

Pelttari LM et al.

Human Molecular Genetics, 2011

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