Varaico: Literature-Extracted Genetic Variants

Gene:RAD50
Variant:p.K722fs
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RAD50

NM_005732.4:p.K722fs

Associated Papers

Expanding the mutational spectrum of RAD50: a case report of Nijmegen breakage syndrome-like disorder in a Chinese child.

Sun H et al.

Gene, 2026

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

Grossi A et al.

International Journal of Molecular Sciences, 2025

40725177 (PubMed )
Supplement: ijms-26-06929-s001.zip › ijms-3724192-supplementary.xlsx › Supplementary_table1

Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.

Jiang Y et al.

Cell Communication and Signaling : Ccs, 2025

40544258 (PubMed )
Supplement: 12964_2025_2281_MOESM1_ESM.xlsx › RJ.P_LP.germline.final

Exploring the Genetic and Clinical Landscape of Dedifferentiated Endometrioid Carcinoma.

Haraga H et al.

International Journal of Molecular Sciences, 2025

40362376 (PubMed )
Supplement: ijms-26-04137-s001.zip › Supplementary_Table_S1.xlsx › Case2_undifferentiated

Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.

Cheo SW et al.

Esmo Open, 2025

40068381 (PubMed )
Supplement: mmc1.xlsx › All_positive

The First Case of Lynch Syndrome-Associated Penile Cancer Harboring a Heterozygous PMS2 Frameshift Variant.

Wu Z et al.

Urologia Internationalis, 2025

Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.

López Rivera JJ et al.

Journal of Personalized Medicine, 2024

39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2

Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.

Kansuttiviwat C et al.

Npj Genomic Medicine, 2024

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.

Yang X et al.

Bmc Medicine, 2024

38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4

Molecular characterization of the evolution of premalignant lesions in the upper aerodigestive tract.

Lechner A et al.

Frontiers in Oncology, 2024

38706595 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Quadruple primary tumors in a lynch syndrome patient surviving more than 26 years with genetic analysis: a case report and literature review.

Zhu B et al.

Frontiers in Oncology, 2024

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM11_ESM.xlsx › Sheet1

RET rearrangement-positive pancreatic cancer has remarkable response to pralsetinib: a case report.

Zhang T et al.

Frontiers in Oncology, 2023

Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population.

Panigoro SS et al.

Diagnostics (basel, Switzerland), 2022

Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients.

Liang Y et al.

Plos Genetics, 2022

36095024 (PubMed )
Supplement: pgen.1010373.s019.xlsx › S4_Table

Wnt/β-Catenin-Pathway Alterations and Homologous Recombination Deficiency in Cholangiocarcinoma Cell Lines and Clinical Samples: Towards Specific Vulnerabilities.

Scheiter A et al.

Journal of Personalized Medicine, 2022

A Case of Microsatellite Instability-High Colon Cancer in a Young Woman With Familial Adenomatous Polyposis.

Blum SM et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2021

A systematic genome-wide mapping of oncogenic mutation selection during CRISPR-Cas9 genome editing.

Sinha S et al.

Nature Communications, 2021

34764240 (PubMed )
Supplement: 41467_2021_26788_MOESM14_ESM.zip › Source_Data › Source_Data_Figure_1-6.xlsx › Figure_6F

Molecular profiling of basal cell carcinomas in young patients.

Abi Karam M et al.

Bmc Medical Genomics, 2021

34284772 (PubMed )
Supplement: 12920_2021_1030_MOESM2_ESM.xlsx › Annex_2

Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Zhang H et al.

Oncology Letters, 2021

33692861 (PubMed )
Supplement: Supplementary_Data.pdf

Mutation Spectra of the MRN (MRE11, RAD50, NBS1/NBN) Break Sensor in Cancer Cells.

McPherson MT et al.

Cancers, 2020

Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma.

Ji K et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2020

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s011.xlsx › Sheet1

Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.

Choi MC et al.

Cancer Research and Treatment, 2020

32019284 (PubMed )
Supplement: crt-2019-207-suppl1.pdf

Sphere-Forming Culture for Expanding Genetically Distinct Patient-Derived Glioma Stem Cells by Cellular Growth Rate Screening.

Shin K et al.

Cancers, 2020

32120790 (PubMed )
Supplement: cancers-12-00549-s001.zip › cancers-663915-Supplementary_Tables_.xlsx › Table_S3

Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.

Chan GHJ et al.

Oncotarget, 2018

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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."