Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.Q10*
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CHEK2

NM_007194.4:p.Q10*

Associated Papers

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

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

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

Modeling Clinical Responses to Targeted Therapies by Patient-Derived Organoids of Advanced Lung Adenocarcinoma.

Kim SY et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

34083237 (PubMed )
Supplement: ccr-20-5026_supplementary_table_1_suppst1.xlsx › Sheet1

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_6.xlsx › Sheet1

Profiles of genomic alterations in primary esophageal follicular dendritic cell sarcoma: A case report.

Ren W et al.

Medicine, 2018

Validating Comprehensive Next-Generation Sequencing Results for Precision Oncology: The NCT/DKTK Molecularly Aided Stratification for Tumor Eradication Research Experience.

Lier A et al.

Jco Precision Oncology, 2018

35135162 (PubMed )
Supplement: ds_po.18.00171-2.pdf

Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer.

Fostira F et al.

Breast Cancer Research and Treatment, 2018

Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling.

Özdemir Z et al.

Mutation Research, 0

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