Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.K373E
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CHEK2

NM_007194.4:p.K373E

Associated Papers

Decoding the Mutational Hierarchy of Thyroid Cancer and Associated Signaling Pathways.

Nashier D et al.

Archives of Medical Research, 2026

A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.

Innamorato S et al.

Genes, 2025

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.xlsx › Sheet1

Distinct genomic profile of pediatric lung carcinoma: High frequency of ALK fusions and TP53 mutations compared to adults.

Abele M et al.

Lung Cancer (amsterdam, Netherlands), 2025

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

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

Multigene germline and somatic testing for epithelial ovarian cancer in China.

Li L et al.

Npj Precision Oncology, 2025

40804290 (PubMed )
Supplement: 41698_2025_1074_MOESM1_ESM.pdf

A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.

Das K et al.

Scientific Reports, 2025

40593313 (PubMed )
Supplement: 41598_2025_8039_MOESM1_ESM.xlsx › Supplementary_Table_S7

Focal High-Grade Areas with a Tumor-in-Tumor Pattern: Another Feature of Pediatric DICER1-Associated Thyroid Carcinoma?

Schiavo Lena M et al.

Endocrine Pathology, 2025

Genetic heterogeneity and key driver mutations in the preneoplastic and earliest stages of gastric cancer.

Marroquín-Estrada EA et al.

Gastroenterology Report, 2025

41079989 (PubMed )
Supplement: goaf089_supplementary_data.zip › Supplementary_Tables_.xlsx › Supp._Table_2

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_after_120d_TISF

Proteogenomic analysis of air-pollution-associated lung cancer reveals prevention and therapeutic opportunities.

Zhang H et al.

Elife, 2024

Molecular genetic analysis of colorectal carcinoma with an aggressive extraintestinal immunohistochemical phenotype.

Hrudka J et al.

Scientific Reports, 2024

39333321 (PubMed )
Supplement: 41598_2024_72687_MOESM2_ESM.xlsx › 1

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

Undifferentiated Carcinoma with Osteoclast-like Giant Cells of the Pancreas: Molecular Genetic Analysis of 13 Cases.

Hrudka J et al.

International Journal of Molecular Sciences, 2024

38542259 (PubMed )
Supplement: ijms-25-03285-s001.zip › ijms-2897629-supplementary.xlsx › ID10

Sequencing of cerebrospinal fluid cell-free DNA facilitated early differential diagnosis of intramedullary spinal cord tumors.

Chai R et al.

Npj Precision Oncology, 2024

38388726 (PubMed )
Supplement: 41698_2024_541_MOESM1_ESM.pdf

Clinicopathologic and genetic analysis of invasive breast carcinomas in women with germline CHEK2 variants.

Schwartz CJ et al.

Breast Cancer Research and Treatment, 2024

Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans.

Alonso-Luna O et al.

Molecular Genetics & Genomic Medicine, 2024

38093606 (PubMed )
Supplement: MGG3-12-e2332-s001.xlsx › Index_case_

Theranostic biomarkers and PARP-inhibitors effectiveness in patients with non-BRCA associated homologous recombination deficient tumors: Still looking through a dirty glass window?

Incorvaia L et al.

Cancer Treatment Reviews, 2023

Molecular and clonal evolution in vivo reveal a common pathway of distant relapse gliomas.

Liu G et al.

Iscience, 2023

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

Mutational landscape of cancer-driver genes across human cancers.

Sinkala M

Scientific Reports, 2023

37550388 (PubMed )
Supplement: 41598_2023_39608_MOESM6_ESM.xlsx › Sheet1

Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Gao F et al.

Cancer Medicine, 2023

36971051 (PubMed )
Supplement: CAM4-12-10267-s001.xlsx › Sheet1

Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.

Kim M et al.

Cancer Research and Treatment, 2023

Targeted deep sequencing reveals genomic alterations of actinic keratosis/cutaneous squamous cell carcinoma in situ and cutaneous squamous cell carcinoma.

Kim YS et al.

Experimental Dermatology, 2023

Plasma ctDNA increases tissue NGS-based detection of therapeutically targetable mutations in lung cancers.

Xie J et al.

Bmc Cancer, 2023

37004022 (PubMed )
Supplement: 12885_2023_10674_MOESM1_ESM.xlsx › data

Mutation profiles in circulating cell-free DNA predict acquired resistance to olaparib in high-grade serous ovarian carcinoma.

Hu D et al.

Cancer Science, 2022

Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.

Serio VB et al.

Journal of Clinical Medicine, 2022

OncoPan®: An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma.

Tibiletti MG et al.

Biomedicines, 2022

35625944 (PubMed )
Supplement: biomedicines-10-01208-s001.zip › biomedicines-1723870-supplementary.pdf

Outcomes of Patients with Metastatic Castration-Resistant Prostate Cancer According to Somatic Damage DNA Repair Gene Alterations.

Neviere Z et al.

Current Oncology (toronto, Ont.), 2022

Comparative Panel Sequencing of DNA Variants in cf-, ev- and tumorDNA for Pancreatic Ductal Adenocarcinoma Patients.

Waldenmaier M et al.

Cancers, 2022

Detection of Cancer Mutations by Urine Liquid Biopsy as a Potential Tool in the Clinical Management of Bladder Cancer Patients.

Ibrahim NK et al.

Cancers, 2022

35205727 (PubMed )
Supplement: cancers-14-00969-s001.zip › cancers-1533743-Supplementary_Tables.xlsx › Table_S6

Non-classical phenotypes of mismatch repair deficiency and microsatellite instability in primary and metastatic tumors at different sites in Lynch syndrome.

Li Z et al.

Frontiers in Oncology, 2022

A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric-cancer patients.

Zhang YJ et al.

Gastroenterology Report, 2021

34567566 (PubMed )
Supplement: goab020_supplementary_data.zip › 2020-457_Supplementary_Table_5.xlsx › Sheet1

KinaseMD: kinase mutations and drug response database.

Hu R et al.

Nucleic Acids Research, 2021

33137204 (PubMed )
Supplement: gkaa945_supplemental_files.zip › Supplementary_Table_S3.xlsx › Sheet1

EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Jin R et al.

Frontiers in Oncology, 2021

34195081 (PubMed )
Supplement: Table_2.xlsx › EGFR-Mutant_ADC

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Gao F et al.

Frontiers in Genetics, 2021

34925435 (PubMed )
Supplement: DataSheet2.xlsx › Sheet1
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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."