Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.R181H
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CHEK2

NM_007194.4:p.R181H

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

Molecular and histopathological insights into renal neuroendocrine tumors (RenNETs): A comprehensive study.

Zhang K et al.

Pathology, Research and Practice, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Mutational landscape of triple-negative breast cancer in African American women.

Yao S et al.

Nature Genetics, 2025

40858906 (PubMed )
Supplement: 41588_2025_2322_MOESM4_ESM.xlsx › Suppl.Table7

Variation at the R181 residue of p53 confers loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosis.

Moses R et al.

Biorxiv : the Preprint Server for Biology, 2025

40832306 (PubMed )
Supplement: media-2.xlsx › S1

Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.

Vietri MT et al.

International Journal of Molecular Sciences, 2025

40649708 (PubMed )
Supplement: ijms-26-05928-s001.zip › ijms-3676111-supplementary.pdf

Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.

Yeh CN et al.

Npj Precision Oncology, 2025

39809865 (PubMed )
Supplement: 41698_2025_802_MOESM1_ESM.pdf

A missense variant effect map for the human tumor-suppressor protein CHK2.

Gebbia M et al.

American Journal of Human Genetics, 2024

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Stolarova L et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients.

Jiang LX et al.

World Journal of Gastroenterology, 2023

CHEK2 Alterations in Pediatric Malignancy: A Single-Institution Experience.

Abdelghani E et al.

Cancers, 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

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST3_Known_Somatic_Variants

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

Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Kasugai Y et al.

Cancer Science, 2022

35218119 (PubMed )
Supplement: CAS-113-1451-s002.xlsx › Table_S1

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.

Boonen RACM et al.

Cancer Research, 2022

Incidental findings from cancer next generation sequencing panels.

Maani N et al.

Npj Genomic Medicine, 2021

Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.

Barakeh DH et al.

Oncotarget, 2021

33868589 (PubMed )
Supplement: oncotarget-12-686-s002.xlsx › Sheet1

Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Lee Y et al.

Cancer Research and Treatment, 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

Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Chen B et al.

Aging, 2020

32091409 (PubMed )
Supplement: aging-12-102783-s001..xlsx › Sheet1

Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.

Kleiblova P et al.

International Journal of Cancer, 2019

Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Dos Santos W et al.

Scientific Reports, 2019

31548566 (PubMed )
Supplement: 41598_2019_49611_MOESM1_ESM.pdf

Germline mutation and aberrant transcripts of WWOX in a syndrome with multiple primary tumors.

Xu A et al.

The Journal of Pathology, 2019

High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer.

Lee SE et al.

Scientific Reports, 2019

31358837 (PubMed )
Supplement: 41598_2019_47439_MOESM2_ESM.xlsx › Table_S5

Targeted next-generation sequencing in papillary thyroid carcinoma patients looking for germline variants predisposing to the disease.

Shen CT et al.

Endocrine, 2019

Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.

Delimitsou A et al.

Human Mutation, 2019

Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.

Thibodeau ML et al.

Cold Spring Harbor Molecular Case Studies, 2019

30833417 (PubMed )
Supplement: supp_mcs.a003681_Supplemental_Methods.docx

Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.

Gong R et al.

Cancer Management and Research, 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

Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance.

Kleiblová P et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer.

Wu Y et al.

The Prostate, 2018

Research progress of neuroblastoma related gene variations.

Cao Y et al.

Oncotarget, 2017

Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma.

Havranek O et al.

Plos One, 2015

The genetic landscape of high-risk neuroblastoma.

Pugh TJ et al.

Nature Genetics, 2013

Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome.

Heymann S et al.

Radiation Oncology (london, England), 2010

Limited relevance of the CHEK2 gene in hereditary breast cancer.

Dufault MR et al.

International Journal of Cancer, 2004

Mutations in CHEK2 associated with prostate cancer risk.

Dong X et al.

American Journal of Human Genetics, 2003

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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."