Varaico: Literature-Extracted Genetic Variants

Gene:RAD51D
Variant:p.R239W
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RAD51D

NM_002878.4:p.R239W

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

41542474 (PubMed )
Supplement: media-1.xlsx › Sup._Table_1_Missense_Variants

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

Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic.

Pramanik R et al.

Ecancermedicalscience, 2024

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

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

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

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

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

Loss of function germline mutations in RAD51D in women with ovarian carcinoma.

Wickramanayake A et al.

Gynecologic Oncology, 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."