Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.Y220C
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CHEK2

NM_007194.4:p.Y220C

Associated Papers

Genetic landscape of Pakistani familial breast cancer patients using multigene panel testing.

Rashid MU et al.

International Journal of Cancer, 2025

Comparison of Somatic Mutations in Primary Squamous Cell Carcinomas of the Hypopharynx and the Esophagus Developed in Individual Patients.

Matsui H et al.

Head & Neck, 2025

The novel curcumin analogue AKT-100 targets mutant p53 in gynecologic cancer cells.

Williams GL et al.

Biorxiv : the Preprint Server for Biology, 2025

From regulation to deregulation of p53 in hematologic malignancies: implications for diagnosis, prognosis and therapy.

Ahmadi SE et al.

Biomarker Research, 2024

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.

Unknown Author

Genome Biology, 2024

38389099 (PubMed )
Supplement: 13059_2023_3113_MOESM1_ESM.docx

Small-scale mutations are infrequent as mechanisms of resistance in post-PARP inhibitor tumour samples in high grade serous ovarian cancer.

Burdett NL et al.

Scientific Reports, 2023

38072854 (PubMed )
Supplement: 41598_2023_48153_MOESM1_ESM.xlsx › Supplementary_table_3

Next-Generation Sequencing Analysis of Mutations in Circulating Tumor DNA from the Plasma of Patients with Head-Neck Cancer Undergoing Chemo-Radiotherapy Using a Pan-Cancer Cell-Free Assay.

Koukourakis MI et al.

Current Oncology (toronto, Ont.), 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

p53 Dysregulation in Breast Cancer: Insights on Mutations in the TP53 Network and p53 Isoform Expression.

Steffens Reinhardt L et al.

International Journal of Molecular Sciences, 2023

Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility.

Kawamura M et al.

Journal of Human Genetics, 2023

Targeting the p53 signaling pathway in cancers: Molecular mechanisms and clinical studies.

Shen J et al.

Medcomm, 2023

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

35661486 (PubMed )
Supplement: CAS-113-2849-s005.xlsx › Sheet1

Incidental findings from cancer next generation sequencing panels.

Maani N et al.

Npj Genomic Medicine, 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 › Every_test

Paired tumor sequencing and germline testing in breast cancer management: An experience of a single academic center.

Elliott E et al.

Cancer Reports (hoboken, N.j.), 2020

Identification of novel mutations of ovarian cancer-related genes from RNA-sequencing data for Japanese epithelial ovarian cancer patients.

Nagasawa S et al.

Endocrine Journal, 2020

Clinical implications of genomic profiles in metastatic breast cancer with a focus on TP53 and PIK3CA, the most frequently mutated genes.

Kim JY et al.

Oncotarget, 2017

28427202 (PubMed )
Supplement: oncotarget-08-27997-s001.pdf

Structural and sequential context of p53: A review of experimental and theoretical evidence.

Saha T et al.

Progress in Biophysics and Molecular Biology, 2015

Genome and transcriptome sequencing in prospective metastatic triple-negative breast cancer uncovers therapeutic vulnerabilities.

Craig DW et al.

Molecular Cancer Therapeutics, 2013

Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

Lee SB et al.

Cancer Research, 2001

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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."