Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.E107Splc
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CHEK2

NM_007194.4:p.E107Splc

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

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Genomic Ascertainment of CHEK2-Related Cancer Predisposition.

Kim SY et al.

Jama Network Open, 2025

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

Moderate-Low Risk Breast Cancer Gene Expression in a Romanian Population.

Goidescu IG et al.

International Journal of Molecular Sciences, 2025

A microglia clonal inflammatory disorder in Alzheimer's disease.

Vicario R et al.

Elife, 2025

Clinical integration of germline findings from a tumor testing precision medicine program.

Sanabria-Salas MC et al.

Bmc Cancer, 2025

39885482 (PubMed )
Supplement: 12885_2025_13487_MOESM1_ESM.pdf

Guarding against digestive-system cancers: Unveiling the role of Chk2 as a potential therapeutic target.

An Y et al.

Genes & Diseases, 2025

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

Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.

Filetti M et al.

Cancers, 2024

39682144 (PubMed )
Supplement: cancers-16-03955-s001.zip › Table_S4.xlsx › Table_S4

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

39273284 (PubMed )
Supplement: ijms-25-09335-s001.zip › ijms-3137350-supplementary.pdf

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

A microglia clonal inflammatory disorder in Alzheimer's Disease.

Vicario R et al.

Biorxiv : the Preprint Server for Biology, 2024

Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.

Szuman M et al.

International Journal of Molecular Sciences, 2024

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

Zhao B et al.

Bmc Cancer, 2024

CHEK2 Founder Variants and Thyroid Cancer Risk.

Brock P et al.

Thyroid : Official Journal of the American Thyroid Association, 2024

Germline CHEK2 mutations in patients with myeloid neoplasms.

Freiman L et al.

Leukemia, 2024

Relationship between the Expression of CHK2 and p53 in Tumor Tissue and the Course of Papillary Thyroid Cancer in Patients with CHEK2 Germline Mutations.

Gąsior-Perczak D et al.

Cancers, 2024

Susceptibility Genes Associated with Multiple Primary Cancers.

Lu M et al.

Cancers, 2023

Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.

Marino F et al.

Prostate Cancer and Prostatic Diseases, 2023

Further Association of Germline CHEK2 Loss-of-Function Variants with Testicular Germ Cell Tumors.

Kirchner K et al.

Journal of Clinical Medicine, 2023

[BRCA2 Mutation Profile in a Proband with Hereditary Breast and Ovarian Cancer-Two Germline Pathogenic Variants Aligned in the Cis Position].

Yukisawa S et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2023

CHEK2 C1100del mutation associated with papillary renal cell carcinoma type II.

Lopez SJ et al.

Urology Case Reports, 2023

Panitumumab Plus Trifluridine-Tipiracil as Anti-Epidermal Growth Factor Receptor Rechallenge Therapy for Refractory RAS Wild-Type Metastatic Colorectal Cancer: A Phase 2 Randomized Clinical Trial.

Napolitano S et al.

Jama Oncology, 2023

37200022 (PubMed )
Supplement: jamaoncol-e230655-s003.xlsx › eTable4

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

The Prevalence of CHEK1 and CHEK2 Mutations in Prostate Cancer: a Retrospective Cohort Study.

Alorjani M et al.

Medical Archives (sarajevo, Bosnia and Herzegovina), 2023

Mutational spectrum of DNA damage and mismatch repair genes in prostate cancer.

Bugoye FC et al.

Frontiers in Genetics, 2023

Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D.

Graffeo R et al.

Breast (edinburgh, Scotland), 2022

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 › S3B

A High Percentage of NSCLC With Germline CHEK2 Mutation Harbors Actionable Driver Alterations: Survey of a Cancer Genomic Database and Review of Literature.

Zhang SS et al.

Jto Clinical and Research Reports, 2022

The impact of oophorectomy on survival from breast cancer in patients with CHEK2 mutations.

Tomiczek-Szwiec J et al.

British Journal of Cancer, 2022

An appraisal of genetic testing for prostate cancer susceptibility.

Finch A et al.

Npj Precision Oncology, 2022

Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.

Venkataramany AS et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2022

A founder CHEK2 pathogenic variant in association with kidney cancer.

Brooks K et al.

Cancer Genetics, 2022

Somatic loss of the remaining allele occurs approximately in half of CHEK2-driven breast cancers and is accompanied by a border-line increase of chromosomal instability.

Iyevleva AG et al.

Breast Cancer Research and Treatment, 2022

Risk of Second Primary Thyroid Cancer in Women with Breast Cancer.

Cieszyńska M et al.

Cancers, 2022

CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?

Koen K et al.

Hereditary Cancer in Clinical Practice, 2022

Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys.

Sánchez-Ares M et al.

Frontiers in Endocrinology, 2022

Papillary thyroid cancer in a patient with germline CHEK2 mutation: A case report.

da Silva Santos T et al.

Annales D'endocrinologie, 2021

Status of CHEK2 and p53 in patients with early-onset and conventional gastric cancer.

Machlowska J et al.

Oncology Letters, 2021

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Concurrent germline BRCA1, BRCA2, and CHEK2 pathogenic variants in hereditary breast cancer: a case series.

Sukumar J et al.

Breast Cancer Research and Treatment, 2021

Skin cancer risk in CHEK2 mutation carriers.

Bui AN et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021

Incidence of the CHEK2 Germline Mutation and Its Impact on Clinicopathological Features, Treatment Responses, and Disease Course in Patients with Papillary Thyroid Carcinoma.

Gąsior-Perczak D et al.

Cancers, 2021

Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue.

Ni VI et al.

Familial Cancer, 2021

Breast Cancer-Related Low Penetrance Genes.

Kang D et al.

Advances in Experimental Medicine and Biology, 2021

Survival of bladder or renal cancer in patients with CHEK2 mutations.

Złowocka-Perłowska E et al.

Plos One, 2021

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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."