Varaico: Literature-Extracted Genetic Variants

Gene:RAD50
Variant:p.S229delFs
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RAD50

NM_005732.4:p.S229delFs

Associated Papers

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

Redeker H et al.

Febs Letters, 2025

Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.

Repo PE et al.

Pigment Cell & Melanoma Research, 2025

Population-based study of recurrent DNA damage response gene variants in breast cancer cases.

Tervasmäki A et al.

Breast Cancer Research and Treatment, 2025

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

Germline pathogenic variants in the MRE11, RAD50, and NBN (MRN) genes in cancer predisposition: A systematic review and meta-analysis.

Stastna B et al.

International Journal of Cancer, 2024

Multigenic panels in breast cancer: Clinical utility and management of patients with pathogenic variants other than BRCA1/2.

Fabi A et al.

Critical Reviews in Oncology/hematology, 2024

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

A rad50 germline mutation induces tumorigenesis and ataxia-telangiectasia phenotype in a transparent medaka model.

Chisada S et al.

Plos One, 2023

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_TableS1.xlsx › Sheet_1

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

MRN Complex and Cancer Risk: Old Bottles, New Wine.

Elkholi IE et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

RAD50 Loss of Function Variants in the Zinc Hook Domain Associated with Higher Risk of Familial Esophageal Squamous Cell Carcinoma.

Ko JMY et al.

Cancers, 2021

Homologous Recombination Deficiency: Cancer Predispositions and Treatment Implications.

Toh M et al.

The Oncologist, 2021

A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.

Rahman S et al.

Cells, 2020

Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population.

AlHarthi FS et al.

Npj Genomic Medicine, 2020

Delineation of the Germline and Somatic Mutation Interaction Landscape in Triple-Negative and Non-Triple-Negative Breast Cancer.

Wu J et al.

International Journal of Genomics, 2020

32724790 (PubMed )
Supplement: 2641370.f1.zip › mat.2641370.v2 › TABLES_S3A.xlsx › 07.TNBC.237.allinfo

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Deconvolution of the Genomic and Epigenomic Interaction Landscape of Triple-Negative Breast Cancer.

Wu J et al.

Cancers, 2019

31683572 (PubMed )
Supplement: cancers-11-01692-s001.zip › cancers-602527-supplementary_publish › Table_S1.xlsx › Sheet2

RAD50 germline mutations are associated with poor survival in BRCA1/2-negative breast cancer patients.

Fan C et al.

International Journal of Cancer, 2018

Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.

Mantere T et al.

Scientific Reports, 2017

28386063 (PubMed )
Supplement: 41598_2017_766_MOESM1_ESM.pdf

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Kobayashi Y et al.

Genome Medicine, 2017

28166811 (PubMed )
Supplement: 13073_2017_403_MOESM2_ESM.xlsx › Sheet1

Frequency of pathogenic germline mutation in CHEK2, PALB2, MRE11, and RAD50 in patients at high risk for hereditary breast cancer.

Kim H et al.

Breast Cancer Research and Treatment, 2017

Routine use of gene panel testing in hereditary breast cancer should be performed with caution.

van Marcke C et al.

Critical Reviews in Oncology/hematology, 2016

Estimating cumulative risks for breast cancer for carriers of variants in uncommon genes.

Lindor NM et al.

Familial Cancer, 2016

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

Couch FJ et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

Beyond BRCA: new hereditary breast cancer susceptibility genes.

Economopoulou P et al.

Cancer Treatment Reviews, 2015

Hereditary ovarian cancer: not only BRCA 1 and 2 genes.

Toss A et al.

Biomed Research International, 2015

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

Next-generation sequencing for inherited breast cancer risk: counseling through the complexity.

Rainville IR et al.

Current Oncology Reports, 2014

Germline variants in MRE11/RAD50/NBN complex genes in childhood leukemia.

Mosor M et al.

Bmc Cancer, 2013

The MRN protein complex genes: MRE11 and RAD50 and susceptibility to head and neck cancers.

Ziółkowska-Suchanek I et al.

Molecular Cancer, 2013

Hereditary breast cancer in the Han Chinese population.

Cao W et al.

Journal of Epidemiology, 2013

RAD50 and NBS1 are not likely to be susceptibility genes in Chinese non-BRCA1/2 hereditary breast cancer.

He M et al.

Breast Cancer Research and Treatment, 2012

Defective homologous recombination in human cancers.

Cerbinskaite A et al.

Cancer Treatment Reviews, 2012

Inherited mutations in breast cancer genes--risk and response.

Shuen AY et al.

Journal of Mammary Gland Biology and Neoplasia, 2011

RAD50 gene mutations are not likely a risk factor for breast cancer in Poland.

Mosor M et al.

Breast Cancer Research and Treatment, 2010

Some common mutations of RAD50 and NBS1 in western populations do not contribute significantly to Chinese non-BRCA1/2 hereditary breast cancer.

Cao AY et al.

Breast Cancer Research and Treatment, 2010

Breast cancer susceptibility: current knowledge and implications for genetic counselling.

Ripperger T et al.

European Journal of Human Genetics : Ejhg, 2009

Rad50 c.687delT does not contribute significantly to familial breast cancer in a French population.

Uhrhammer N et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2009

Hereditary breast cancer: new genetic developments, new therapeutic avenues.

Campeau PM et al.

Human Genetics, 2008

Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair.

Czornak K et al.

Journal of Applied Genetics, 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

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