Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.I160M
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CHEK2

NM_007194.4:p.I160M

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

CHEK2 Germline Variants and Their Clinical Implications: Experience from a Turkish Hereditary Cancer Cohort.

Manav Yigit Z et al.

Cancer Investigation, 2025

Germline mutational landscape in a large cohort of Indian breast cancer.

Peter J et al.

Bmc Cancer, 2025

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.

Stubbins RJ et al.

Leukemia, 2025

40335619 (PubMed )
Supplement: 41375_2025_2635_MOESM3_ESM.xls › CHEK2_Supplemental_Table_2_v25

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST22

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

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.s010.xlsx › All_Assays

Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.

Agaoglu NB et al.

Cancer Medicine, 2024

38308423 (PubMed )
Supplement: CAM4-13-e6852-s002.xlsx › Supp_Table_5

Performance of a RAD51-based functional HRD test on paraffin-embedded breast cancer tissue.

van Wijk LM et al.

Breast Cancer Research and Treatment, 2023

37725154 (PubMed )
Supplement: 10549_2023_7102_MOESM1_ESM.pdf

Comments on "The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients".

Kratz CP et al.

International Journal of Cancer, 2023

Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.

Nacer DF et al.

Genome Medicine, 2023

37060015 (PubMed )
Supplement: 13073_2023_1177_MOESM2_ESM.xlsx › Table_S7

The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.

Wagener R et al.

International Journal of Cancer, 2023

Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.

Lim BWX et al.

Journal of the National Cancer Institute, 2023

36315097 (PubMed )
Supplement: djac196_supplementary_data.zip › djac196_Supplementary_Data › JNCI-22-0201R4_Campbell_Supplementary_Tables_1-5_101822.xlsx › Supp_Table2_CHEK2_MS

Multi-Gene Mutation Profiling by Targeted Next-Generation Sequencing in Premenopausal Breast Cancer.

Zografos E et al.

Genes, 2022

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S17

Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Vela V et al.

Virchows Archiv : an International Journal of Pathology, 2022

34494161 (PubMed )
Supplement: 428_2021_3186_MOESM21_ESM.xlsx › Supplementary_Table_8

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Song H et al.

Journal of Medical Genetics, 2021

32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_6

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Moradian MM et al.

Human Genome Variation, 2021

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary

The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.

Andrikopoulou A et al.

Frontiers in Oncology, 2021

Is CHEK2 a moderate-risk breast cancer gene or the younger sister of Li-Fraumeni?

De Silva DL et al.

Bmj Case Reports, 2020

Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

da Costa E Silva Carvalho S et al.

Bmc Medical Genomics, 2020

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN et al.

Bmc Cancer, 2019

31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM6_ESM.xlsx › Supplementary_Table_S5

Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.

Delimitsou A et al.

Human Mutation, 2019

Current perspectives on CHEK2 mutations in breast cancer.

Apostolou P et al.

Breast Cancer (dove Medical Press), 2017

Low prevalence of CHEK2 gene mutations in multiethnic cohorts of breast cancer patients in Malaysia.

Mohamad S et al.

Plos One, 2015

Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

Roeb W et al.

Human Molecular Genetics, 2012

Limited relevance of the CHEK2 gene in hereditary breast cancer.

Dufault MR et al.

International Journal of Cancer, 2004

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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."