Varaico: Literature-Extracted Genetic Variants

Gene:RAD50
Variant:p.K722delFs
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RAD50

NM_005732.4:p.K722delFs

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 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

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal

Germline and somatic mutational variants of Tunisian high grade serous ovarian cancer identified by next-generation sequencing.

Ammous-Boukhris N et al.

Bmc Cancer, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

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

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax.

Lee NY et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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

Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors.

Olkinuora A et al.

Frontiers in Oncology, 2024

38725616 (PubMed )
Supplement: Table_2.xlsx › Table_S2

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

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

Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.

Lee K et al.

Scientific Reports, 2023

37336919 (PubMed )
Supplement: 41598_2023_35925_MOESM1_ESM.xlsx › Table_S4__patho_variants_

Genomic profiles of renal cell carcinoma in a small Chinese cohort.

Tai S et al.

Frontiers in Oncology, 2023

37427096 (PubMed )
Supplement: Table_1.xls › Sheet1

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 › All

TP53 variants in p53 signatures and the clonality of STICs in RRSO samples.

Akahane T et al.

Journal of Gynecologic Oncology, 2022

35557033 (PubMed )
Supplement: jgo-33-e50-s006.xls › jgo-33-e50-s006

Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.

Yao J et al.

Cancer Biology & 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

Exonic sequencing and MLH3 gene expression analysis of breast cancer patients.

Khailany RA et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2021

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 › All

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

A DNA Damage Response Gene Panel for Different Histologic Types of Epithelial Ovarian Carcinomas and Their Outcomes.

Chiang YC et al.

Biomedicines, 2021

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

Family history assessment significantly enhances delivery of precision medicine in the genomics era.

Bylstra Y et al.

Genome Medicine, 2021

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

McPherson MT et al.

Cancers, 2020

Heritable Susceptibility to Breast Cancer among African-American Women in the Detroit Research on Cancer Survivors Study.

Purrington KS et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020

Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing.

Nanki Y et al.

Scientific Reports, 2020

32724113 (PubMed )
Supplement: 41598_2020_69488_MOESM2_ESM.xlsx › Sheet1

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

Using next-generation sequencing to redefine BRCAness in triple-negative breast cancer.

Lin PH et al.

Cancer Science, 2020

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

Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

Winn JS et al.

International Journal of Molecular Sciences, 2020

32075053 (PubMed )
Supplement: ijms-21-01290-s001.zip › ijms-703397_SI › Supplementary_Table_3.xlsx › Supplementary_Table_2_final

Application of cell-free DNA for genomic tumor profiling: a feasibility study.

Ahlborn LB et al.

Oncotarget, 2019

30858924 (PubMed )
Supplement: oncotarget-10-1388-s002.xls › Supplemental_Table_3

Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing.

Zhao Q et al.

Journal of Gynecologic Oncology, 2017

Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.

Jean S et al.

Oncotarget, 2016

27191893 (PubMed )
Supplement: oncotarget-07-48577-s002.xlsx › Sheet1

Longitudinal copy number, whole exome and targeted deep sequencing of 'good risk' IGHV-mutated CLL patients with progressive disease.

Rose-Zerilli MJ et al.

Leukemia, 2016

26847028 (PubMed )
Supplement: leu201610x6.xls › 2015_RoseZerilli_WES_in_IGHVmut
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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."