Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.E149fs
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CHEK2

NM_007194.4:p.E149fs

Associated Papers

Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?

Bottillo I et al.

European Journal of Human Genetics : Ejhg, 2023

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

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

Constitutional mutations of the CHEK2 gene are a risk factor for MDS, but not for de novo AML.

Janiszewska H et al.

Leukemia Research, 2018

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

Kraus C et al.

International Journal of Cancer, 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."