Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.W93fs
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CHEK2

NM_007194.4:p.W93fs

Associated Papers

Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.

Nagy P et al.

International Journal of Molecular Sciences, 2024

Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.

Carvalho NA et al.

Journal of Medical Genetics, 2023

37536918 (PubMed )
Supplement: jmg-2023-109269supp001.xlsx › SuppTable_3

Checkpoint Kinase 2 (CHEK2) Gene Mutation in a Patient With Breast and Prostate Cancer: A Unique Presentation of a Rare Disease.

Ekram SN et al.

Cureus, 2023

Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.

Mitchell OD et al.

Jama Network Open, 2023

A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer.

Soleimani T et al.

Clinical Case Reports, 2023

Mutational profiling of Chinese patients with thyroid cancer.

Du Y et al.

Frontiers in Endocrinology, 2023

37465126 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_2

Role of Homologous Recombination Repair (HRR) Genes in Uterine Leiomyosarcomas: A Retrospective Analysis.

Ciccarone F et al.

Cancers, 2022

35454841 (PubMed )
Supplement: cancers-14-01934-s001.zip › cancers-1660929-supplementary.pdf

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

Boonen RACM et al.

Cancer Research, 2022

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

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

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

Kleiblova P et al.

International Journal of Cancer, 2019

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Lu HM et al.

Jama Oncology, 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

MSH2 Loss in Primary Prostate Cancer.

Guedes LB et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

Lhota F et al.

Clinical Genetics, 2016

RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.

Zemankova P et al.

Clinical Genetics, 2016

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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."