Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.K244R
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CHEK2

NM_007194.4:p.K244R

Associated Papers

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

Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Miyashita M et al.

Breast Cancer Research : Bcr, 2023

37231433 (PubMed )
Supplement: 13058_2023_1627_MOESM4_ESM.xlsx › All_Subtypes__mutations_

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

Stolarova L et al.

Cells, 2020

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

Kleiblova P et al.

International Journal of Cancer, 2019

CHEK2 contribution to hereditary breast cancer in non-BRCA families.

Desrichard A et al.

Breast Cancer Research : Bcr, 2011

Genetic screening for hereditary diffuse gastric cancer.

Oliveira C et al.

Expert Review of Molecular Diagnostics, 2003

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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."