Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.Y390C
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CHEK2

NM_007194.4:p.Y390C

Associated Papers

Genomic Ascertainment of CHEK2-Related Cancer Predisposition.

Kim SY et al.

Jama Network Open, 2025

41396600 (PubMed )
Supplement: jamanetwopen-e2549730-s002.xlsx › eTable1

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.

Stubbins RJ et al.

Leukemia, 2025

40335619 (PubMed )
Supplement: 41375_2025_2635_MOESM5_ESM.xls › CHEK2_Supplemental_Table_4_v25

Focal High-Grade Areas with a Tumor-in-Tumor Pattern: Another Feature of Pediatric DICER1-Associated Thyroid Carcinoma?

Schiavo Lena M et al.

Endocrine Pathology, 2025

A missense variant effect map for the human tumor-suppressor protein CHK2.

Gebbia M et al.

American Journal of Human Genetics, 2024

39642869 (PubMed )
Supplement: mmc4.pdf

Endometrioid ovarian carcinoma landscape: pathological and molecular characterization.

de Nonneville A et al.

Molecular Oncology, 2024

38923749 (PubMed )
Supplement: MOL2-18-2586-s001.zip › mol213679-sup-0010-TableS7.xlsx › SupTable7

Genomic ascertainment of CHEK2-related cancer predisposition.

Kim SY et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39371170 (PubMed )
Supplement: media-6.xlsx › Supp_Table1

Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.

McCarthy-Leo CE et al.

Plos Genetics, 2024

39146382 (PubMed )
Supplement: pgen.1011375.s010.xlsx › Legend

Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.

Wei Y et al.

Molecular Oncology, 2023

37584393 (PubMed )
Supplement: MOL2-17-2183-s002.xlsx › Table_S6

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

Targeted deep sequencing reveals genomic alterations of actinic keratosis/cutaneous squamous cell carcinoma in situ and cutaneous squamous cell carcinoma.

Kim YS et al.

Experimental Dermatology, 2023

Identification of potential driver mutations in glioblastoma using machine learning.

Pandey M et al.

Briefings in Bioinformatics, 2022

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

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

Boonen RACM et al.

Cancer Research, 2022

Identification of CHEK2 germline mutations in BRCA1/2 and PALB2 negative breast and ovarian cancer patients.

Aksoy F et al.

Human Heredity, 2022

Molecular-Genetic Portrait of Breast Cancer with Triple Negative Phenotype.

Ibragimova MK et al.

Cancers, 2021

Recurrent Germline Mutations of CHEK2 as a New Susceptibility Gene in Patients with Pheochromocytomas and Paragangliomas.

Gao Y et al.

International Journal of Endocrinology, 2021

Screening of germline mutations in young Rwandan patients with breast cancers.

Uyisenga JP et al.

Molecular Genetics & Genomic Medicine, 2020

Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Yadav S et al.

Oncogene, 2020

32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_

Prognostic Significance of CHEK2 Mutation in Progression of Breast Cancer.

Ansari N et al.

Laboratory Medicine, 2019

UCHL1 loss alters the cell-cycle in metastatic pancreatic neuroendocrine tumors.

Finnerty BM et al.

Endocrine-related Cancer, 2019

[Hereditary predisposition to breast cancer (1): genetics].

Cohen-Haguenauer O

Medecine Sciences : M/s, 2019

Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact.

Badgujar NV et al.

Plos One, 2019

Study on the Mechanism of Cell Cycle Checkpoint Kinase 2 (CHEK2) Gene Dysfunction in Chemotherapeutic Drug Resistance of Triple Negative Breast Cancer Cells.

Luo L et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2018

Identification and analysis of CHEK2 germline mutations in Chinese BRCA1/2-negative breast cancer patients.

Fan Z et al.

Breast Cancer Research and Treatment, 2018

Genomic analysis reveals frequent TRAF7 mutations in intraneural perineuriomas.

Klein CJ et al.

Annals of Neurology, 2017

KinView: a visual comparative sequence analysis tool for integrated kinome research.

McSkimming DI et al.

Molecular Biosystems, 2016

Prevalence of the CHEK2 R95* germline mutation.

Knappskog S et al.

Hereditary Cancer in Clinical Practice, 2016

A novel recurrent CHEK2 Y390C mutation identified in high-risk Chinese breast cancer patients impairs its activity and is associated with increased breast cancer risk.

Wang N et al.

Oncogene, 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."