Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.Q20*
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CHEK2

NM_007194.4:p.Q20*

Associated Papers

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › PVs

Prevalence of germline CHEK2 variants in East Asians and Koreans based on population genomic databases.

Park JE et al.

Breast Cancer (tokyo, Japan), 2026

Genomic Ascertainment of CHEK2-Related Cancer Predisposition.

Kim SY et al.

Jama Network Open, 2025

41396600 (PubMed )
Supplement: jamanetwopen-e2549730-s002.xlsx › eTable1

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J et al.

Nature Genetics, 2025

40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6

Prostate-Related Germline Variant Frequencies Detected in a Cohort of Men With Metastatic Prostate Cancer in Northern India.

Batra A et al.

Jco Precision Oncology, 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

Short Report: The Variants in CHEK2 in Metastatic Uveal Melanoma.

Terai M et al.

Journal of Clinical Medicine, 2025

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

CHEK2 variants, breast cancer, and implications for management: a narrative review.

Conde DM

Translational Breast Cancer Research : a Journal Focusing on Translational Research in Breast Cancer, 2025

Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Türkiye.

Ozdemir O et al.

Cancers, 2024

Genomic ascertainment of CHEK2-related cancer predisposition.

Kim SY et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39371170 (PubMed )
Supplement: media-6.xlsx › Supp_Table1

Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.

McCarthy-Leo CE et al.

Plos Genetics, 2024

39146382 (PubMed )
Supplement: pgen.1011375.s008.xlsx › All_SNVs_Data

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM4_ESM.xlsx › ERCC4

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_10

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.

Subasri V et al.

Cancer Research Communications, 2023

37377903 (PubMed )
Supplement: crc-22-0402-s04.xlsx › A._Class3_SNVs_indels

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

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_TableS3.xlsx › S3A

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A

Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.

Akbar F et al.

Hereditary Cancer in Clinical Practice, 2022

Germline Mutation Analysis in Sporadic Breast Cancer Cases With Clinical Correlations.

Ajaz S et al.

Frontiers in Genetics, 2022

Genomic Landscape of Head and Neck Squamous Cell Carcinoma Across Different Anatomic Sites in Chinese Population.

Ju Y et al.

Frontiers in Genetics, 2021

34194478 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_S6

Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer.

Greville-Heygate SL et al.

Jco Precision Oncology, 2020

A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome.

Bhai P et al.

Cancer Genetics, 2019

Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact.

Badgujar NV et al.

Plos One, 2019

Identification and analysis of CHEK2 germline mutations in Chinese BRCA1/2-negative breast cancer patients.

Fan Z et al.

Breast Cancer Research and Treatment, 2018

Genetics of breast cancer in African populations: a literature review.

Abbad A et al.

Global Health, Epidemiology and Genomics, 2018

Whole-genome landscape of pancreatic neuroendocrine tumours.

Scarpa A et al.

Nature, 2017

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

Current perspectives on CHEK2 mutations in breast cancer.

Apostolou P et al.

Breast Cancer (dove Medical Press), 2017

Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified dentified in Breast Cancer Patients from Balochistan.

Baloch AH et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2016

Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan.

Baloch AH et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2016

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1

Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling.

Özdemir Z et al.

Mutation Research, 0

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