Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.M304fs
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CHEK2

NM_007194.4:p.M304fs

Associated Papers

Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review.

Pavlovica K et al.

European Journal of Medical 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

The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021.

Roht L et al.

Frontiers in Genetics, 2022

Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.

Wieme G et al.

Cancers, 2021

34503238 (PubMed )
Supplement: cancers-13-04430-s001.zip › Supl_tables_zip_cancers › Suppl_Table_S4.xlsx › Blad1

Novel LRRK2 mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors.

Cheung M et al.

Human Molecular Genetics, 2021

Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variant.

Bazinet A et al.

Cold Spring Harbor Molecular Case Studies, 2021

CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate.

Stolarova L et al.

Cells, 2020

Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Stolarova L et al.

Biomedicines, 2020

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

Kleiblova P et al.

International Journal of Cancer, 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

Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing.

Spurdle AB et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2017

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

Havranek O et al.

Plos One, 2015

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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."