Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.L236P
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CHEK2

NM_007194.4:p.L236P

Associated Papers

Prevalence of germline CHEK2 variants in East Asians and Koreans based on population genomic databases.

Park JE et al.

Breast Cancer (tokyo, Japan), 2026

Genomic Ascertainment of CHEK2-Related Cancer Predisposition.

Kim SY et al.

Jama Network Open, 2025

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

Cancer spectrum in Mexican patients with the CHEK2 p.(Leu236Pro) variant: a retrospective study.

Flores-Lagunes LL et al.

Familial Cancer, 2025

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J et al.

Nature Genetics, 2025

40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6

Germline Genetic Variants in Cancer Predisposition Genes in Patients From Latin America and the Caribbean.

Wegman-Ostrosky T et al.

Jco Global Oncology, 2025

Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population.

Aguilar D et al.

Breast Cancer Research : Bcr, 2025

Landscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population.

Aguilar D et al.

Jco Global Oncology, 2025

An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene.

Gu H et al.

Genetics in Medicine Open, 2025

41542347 (PubMed )
Supplement: mmc2.xlsx › P_Var_supplementary

Prevalence of DNA-Repair Gene mutations in Mexican men with prostate cancer.

Cruz Garcia Villa P et al.

Actas Urologicas Espanolas, 2024

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

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15

Prospective Study of Homologous Recombination Repair Gene Mutation Prevalence in Patients With Advanced Prostate Cancer From Latin America: Challenges and Future Approaches.

Manneh R et al.

Jco Precision Oncology, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_5

Clinicopathologic and genetic analysis of invasive breast carcinomas in women with germline CHEK2 variants.

Schwartz CJ et al.

Breast Cancer Research and Treatment, 2024

Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans.

Alonso-Luna O et al.

Molecular Genetics & Genomic Medicine, 2024

Breast and colorectal cancer risks among over 6,000 CHEK2 pathogenic variant carriers: A comparison of missense versus truncating variants.

Mundt E et al.

Cancer Genetics, 2023

Germline DNA Repair Genes Pathogenic Variants Among Mexican Patients With Prostate Cancer.

Chávarri-Guerra Y et al.

Clinical Genitourinary Cancer, 2023

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

Profiling the Somatic Mutational Landscape of Breast Tumors from Hispanic/Latina Women Reveals Conserved and Unique Characteristics.

Ding YC et al.

Cancer Research, 2023

Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.

Pérez-Ibave DC et al.

Genes, 2023

36833268 (PubMed )
Supplement: genes-14-00341-s001.zip › Table_S1.xlsx › Hoja1

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S17

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.

Weitzel JN et al.

Cancer, 2019

Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.

Delimitsou A et al.

Human Mutation, 2019

Use of panel tests in place of single gene tests in the cancer genetics clinic.

Yorczyk A et al.

Clinical Genetics, 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."