Varaico: Literature-Extracted Genetic Variants

Gene:RAD51D
Variant:p.E233G
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RAD51D

NM_002878.4:p.E233G

Associated Papers

High-throughput mapping of 6,888 RAD51D variants identifies distinct biochemical functions needed for homologous recombination and olaparib response.

Darrah KE et al.

Biorxiv : the Preprint Server for Biology, 2026

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

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

Rare Germline Variants in DNA Repair Genes Detected in BRCA-Negative Finnish Patients with Early-Onset Breast Cancer.

Kurkilahti V et al.

Cancers, 2024

Germline Mutational Landscape and Novel Targetable RAD51D Variant in Chinese Patients With Ovarian Cancer.

Feng Z et al.

Jco Global Oncology, 2024

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15

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_S1

In Silico-Based Structural Evaluation to Categorize the Pathogenicity of Mutations Identified in the RAD Class of Proteins.

Anwaar A et al.

Acs Omega, 2023

Cell-Free DNA Sequencing Reveals Gene Variants in DNA Damage Repair Genes Associated with Prognosis of Prostate Cancer Patients.

Lieb V et al.

Cells, 2022

36429046 (PubMed )
Supplement: cells-11-03618-s001.zip › Suppl._files › Suppl._Table_S2_.xlsx › variant_score

OncoPan®: An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma.

Tibiletti MG et al.

Biomedicines, 2022

35625944 (PubMed )
Supplement: biomedicines-10-01208-s001.zip › biomedicines-1723870-supplementary.pdf

The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.

Alenezi WM et al.

Cancers, 2022

35565380 (PubMed )
Supplement: cancers-14-02251-s001.zip › Suppl_Table_S5.xlsx › Table_S5

A decade of RAD51C and RAD51D germline variants in cancer.

Boni J et al.

Human Mutation, 2022

Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.

Lieb V et al.

Cells, 2021

34831445 (PubMed )
Supplement: cells-10-03223-s001.zip › Suppl._Table_S1.xlsx › variant_score

Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.

Velázquez C et al.

Cancers, 2020

32756499 (PubMed )
Supplement: cancers-12-02151-s001.pdf

Association between polymorphisms in MicroRNA target sites of RAD51D genes and risk of hepatocellular carcinoma.

Jiang YJ et al.

Cancer Medicine, 2019

Genetic Epidemiology of Breast Cancer in Latin America.

Zavala VA et al.

Genes, 2019

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

Identification of genetic variants for clinical management of familial colorectal tumors.

Dominguez-Valentin M et al.

Bmc Medical Genetics, 2018

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.

Rivera B et al.

Cancer Research, 2017

Germline mutations of the DNA repair pathways in uterine serous carcinoma.

Frimer M et al.

Gynecologic Oncology, 2016

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

Use of panel tests in place of single gene tests in the cancer genetics clinic.

Yorczyk A et al.

Clinical Genetics, 2015

A steroid metabolizing gene variant in a polyfactorial model improves risk prediction in a high incidence breast cancer population.

Jupe ER et al.

Bba Clinical, 2014

26673457 (PubMed )
Supplement: mmc1.pdf

A proteome-scale map of the human interactome network.

Rolland T et al.

Cell, 2014

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.

Gutiérrez-Enríquez S et al.

International Journal of Cancer, 2014

Determining effects of non-synonymous SNPs on protein-protein interactions using supervised and semi-supervised learning.

Zhao N et al.

Plos Computational Biology, 2014

Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.

Osher DJ et al.

British Journal of Cancer, 2012

Germline mutations in RAD51D confer susceptibility to ovarian cancer.

Loveday C et al.

Nature Genetics, 2011

Variants in DNA double-strand break repair genes and risk of familial breast cancer in a South American population.

Jara L et al.

Breast Cancer Research and Treatment, 2010

Cisplatin resistance conferred by the RAD51D (E233G) genetic variant is dependent upon p53 status in human breast carcinoma cell lines.

Nadkarni A et al.

Molecular Carcinogenesis, 2009

Loss of Rad51c leads to embryonic lethality and modulation of Trp53-dependent tumorigenesis in mice.

Kuznetsov SG et al.

Cancer Research, 2009

Functional characterization of the RAD51D E233G genetic variant.

Nadkarni A et al.

Pharmacogenetics and Genomics, 2009

The RAD51D E233G variant and breast cancer risk: population-based and clinic-based family studies of Australian women.

Dowty JG et al.

Breast Cancer Research and Treatment, 2008

Genotyping panel for assessing response to cancer chemotherapy.

Dai Z et al.

Bmc Medical Genomics, 2008

18547414 (PubMed )
Supplement: 1755-8794-1-24-S1.xls › SNPs_selected_for_SNPlex_design

Dinucleotide repeat polymorphisms of RAD51, BRCA1, BRCA2 gene regions in breast cancer.

Nowacka-Zawisza M et al.

Pathology International, 2008

Links between DNA double strand break repair and breast cancer: accumulating evidence from both familial and nonfamilial cases.

Ralhan R et al.

Cancer Letters, 2007

The Polycomb group protein EZH2 impairs DNA repair in breast epithelial cells.

Zeidler M et al.

Neoplasia (new York, N.y.), 2005

Increased rates of chromosome breakage in BRCA1 carriers are normalized by oral selenium supplementation.

Kowalska E et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

Extensive chromosomal instability in Rad51d-deficient mouse cells.

Smiraldo PG et al.

Cancer Research, 2005

The RAD51 gene family, genetic instability and cancer.

Thacker J

Cancer Letters, 2005

The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations.

Rodríguez-López R et al.

International Journal of Cancer, 2004

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