Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.Y72*
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CHEK2

NM_007194.4:p.Y72*

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

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.

Stubbins RJ et al.

Leukemia, 2025

40335619 (PubMed )
Supplement: 41375_2025_2635_MOESM3_ESM.xls › CHEK2_Supplemental_Table_2_v25

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.s008.xlsx › All_SNVs_Data

Dynamics of clonal hematopoiesis under DNA-damaging treatment in patients with ovarian cancer.

Arends CM et al.

Leukemia, 2024

38637689 (PubMed )
Supplement: 41375_2024_2253_MOESM2_ESM.xlsx › SomaticMutations_d1

Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.

Singhal D et al.

Leukemia, 2021

DNA damage repair pathway alterations in metastatic clear cell renal cell carcinoma and implications on systemic therapy.

Ged Y et al.

Journal for Immunotherapy of Cancer, 2020

32571992 (PubMed )
Supplement: jitc-2019-000230supp001.pdf

Toward automation of germline variant curation in clinical cancer genetics.

Ravichandran V et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30787465 (PubMed )
Supplement: NIHMS1525468-supplement-Large_Excel_File.xlsx › Table_S7

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

Lu HM et al.

Jama Oncology, 2019

Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma.

Carlo MI et al.

Jama Oncology, 2018

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
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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."