Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.E84E
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CHEK2

NM_007194.4:p.E84E

Associated Papers

Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.

Handoko et al.

Scientific Reports, 2025

40594369 (PubMed )
Supplement: 41598_2025_6096_MOESM8_ESM.zip › Supp_Data_6 › S2_SNV.xlsx › s3_CHEK2

Synonymous mutations promote tumorigenesis by disrupting m6A-dependent mRNA metabolism.

Lan Y et al.

Cell, 2025

Comparative Targeted Genome Profiling between Solid and Liquid Biopsies in Gastroenteropancreatic Neuroendocrine Neoplasms: A Proof-of-Concept Pilot Study.

Gagliardi I et al.

Neuroendocrinology, 2025

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.

Szuman M et al.

International Journal of Molecular Sciences, 2024

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › SNU620

Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Kasugai Y et al.

Cancer Science, 2022

35218119 (PubMed )
Supplement: CAS-113-1451-s002.xlsx › Table_S1

Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure.

Henarejos-Castillo I et al.

Journal of Personalized Medicine, 2021

34199109 (PubMed )
Supplement: jpm-11-00609-s001.zip › jpm-1233323-supplementary.pdf

Status of CHEK2 and p53 in patients with early-onset and conventional gastric cancer.

Machlowska J et al.

Oncology Letters, 2021

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

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_

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s100.xlsx › Sheet1

Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population.

AlHarthi FS et al.

Npj Genomic Medicine, 2020

A pan-cancer analysis of synonymous mutations.

Sharma Y et al.

Nature Communications, 2019

31189880 (PubMed )
Supplement: 41467_2019_10489_MOESM5_ESM.xlsx › Data_S3_ClinVar___Cancer

Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Kim YC et al.

Plos One, 2017

28076423 (PubMed )
Supplement: pone.0167581.s001.xlsx › Sheet1

Low prevalence of CHEK2 gene mutations in multiethnic cohorts of breast cancer patients in Malaysia.

Mohamad S et al.

Plos One, 2015

Hereditary ovarian cancer: not only BRCA 1 and 2 genes.

Toss A et al.

Biomed Research International, 2015

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

Havranek O et al.

Plos One, 2015

Identification of two poorly prognosed ovarian carcinoma subtypes associated with CHEK2 germ-line mutation and non-CHEK2 somatic mutation gene signatures.

Ow GS et al.

Cell Cycle (georgetown, Tex.), 2014

Constitutional CHEK2 mutations are infrequent in early-onset and familial breast/ovarian cancer patients from Pakistan.

Rashid MU et al.

Bmc Cancer, 2013

A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women.

Liu Y et al.

Human Mutation, 2011

Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2.

Nguyen-Dumont T et al.

Bmc Medical Genomics, 2011

21569354 (PubMed )
Supplement: 1755-8794-4-39-S1.PDF

Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer.

Guénard F et al.

Genetic Testing and Molecular Biomarkers, 2010

The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.

Ruijs MW et al.

Hereditary Cancer in Clinical Practice, 2009

Deleterious CHEK2 1100delC and L303X mutants identified among 38 human breast cancer cell lines.

Wasielewski M et al.

Breast Cancer Research and Treatment, 2009

CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

Chrisanthar R et al.

Plos One, 2008

Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women.

Novak DJ et al.

Bmc Cancer, 2008

Links between DNA double strand break repair and breast cancer: accumulating evidence from both familial and nonfamilial cases.

Ralhan R et al.

Cancer Letters, 2007

Genetic and epigenetic analysis of CHEK2 in sporadic breast, colon, and ovarian cancers.

Williams LH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2006

Alternative splicing and mutation status of CHEK2 in stage III breast cancer.

Staalesen V et al.

Oncogene, 2004

Analysis of CHEK2 gene for ovarian cancer susceptibility.

Baysal BE et al.

Gynecologic Oncology, 2004

CHEK2 variant I157T may be associated with increased breast cancer risk.

Kilpivaara O et al.

International Journal of Cancer, 2004

CHEK2 variants associate with hereditary prostate cancer.

Seppälä EH et al.

British Journal of Cancer, 2003

Mutation analysis of the CHK2 gene in breast carcinoma and other cancers.

Ingvarsson S et al.

Breast Cancer Research : Bcr, 2002

Polymorphic hCHK2/hCds1 codon 84 allele and risk of squamous cell carcinoma of the head and neck--a case-control analysis.

Zheng Y et al.

Carcinogenesis, 2001

An intronic poly (AT) polymorphism of the DNA repair gene XPC and risk of squamous cell carcinoma of the head and neck: a case-control study.

Shen H et al.

Cancer Research, 2001

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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."