Varaico: Literature-Extracted Genetic Variants

Gene:RAD50
Variant:p.R725W
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RAD50

NM_005732.4:p.R725W

Associated Papers

RAD50 missense variants differentially affect the DNA damage response and mitotic progression.

Redeker H et al.

Febs Letters, 2025

A Pilot Study: Contrasting Genomic Profiles of Lung Adenocarcinoma Between Patients of European and Latin American Ancestry.

Rueda-Zarazua B et al.

International Journal of Molecular Sciences, 2025

40430005 (PubMed )
Supplement: ijms-26-04865-s001.zip › ijms-3565226-supplementary › Table_S1.pdf

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

Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.

Rostami MR et al.

Molecular Therapy. Methods & Clinical Development, 2023

38089635 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_III

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_3.xlsx › somatic_alterations

CCNE1 amplification is associated with poor prognosis in patients with triple negative breast cancer.

Zhao ZM et al.

Bmc Cancer, 2019

30665374 (PubMed )
Supplement: 12885_2019_5290_MOESM1_ESM.xlsx › CCNE1ms_forSupplData_FMOne_Pilo

Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.

Quezada Urban R et al.

Cancers, 2018

30262796 (PubMed )
Supplement: cancers-10-00361-s001.pdf

Multigene testing of moderate-risk genes: be mindful of the missense.

Young EL et al.

Journal of Medical Genetics, 2016

26787654 (PubMed )
Supplement: jmedgenet-2015-103398-s2.pdf

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

Damiola F et al.

Breast Cancer Research : Bcr, 2014

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