Purpose: Germline variants of the CHEK2 gene have been shown to act as low-penetrance cancer susceptibility alleles for a wide range of human malignancies. CHEK2 I157T has particularly been linked to colorectal cancer (CRC) risk. We aimed at establishing the population frequency and contribution of this variant to colorectal carcinogenesis in Bulgaria.
Methods: We have genotyped 802 population controls and 343 CRC patients from Bulgaria for the CHEK2 I157T variant.
Results: Heterozygous were 9 of 343 patients (2.62%, odds ratio/OR=1.0, 95% confidence interval/CI = 0.42 - 2.33, p=0.99% and 21 of 802 controls (2.62%). Higher frequencies were found among patients with multiple polyposis (2/40, 5%, p=0.28) and the rarer mucinous histology (1/11, 9.09%, p= 0.26).
Conclusion: We conclude that CHEK2 I157T is not relevant for CRC risk in Bulgaria, but studies on a larger scale might help evaluate its possible significance in respect to disease characteristics.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Comparing Cancer Risk Management between Females with Truncating 1100delC versus Missense I157T Variants.
Genes (Basel)
July 2024
Vanderbilt University Medical Center, 1500 21st Ave. So., Suite 2810, Nashville, TN 37212, USA.
Breast cancer (BC) risks imparted by c.1100delC ("1100delC") germline pathogenic/likely pathogenic variant (GPV) are 20-30%, compared to c.470T>C ("I157T") GPV with <20%, leading to different breast screening recommendations through MRI.
View Article and Find Full Text PDFGI Polyps and Polyposis in Individuals Harboring Germline CHEK2 Mutations.
Dis Colon Rectum
October 2024
Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, California.
Background: Checkpoint kinase 2 is a tumor suppressor gene in the DNA damage checkpoint system that may be mutated in several cancers. Patients with germline checkpoint kinase 2 mutations and multiple colon polyps were noted during routine care, and genetic testing is recommended for patients with as few as 10 lifetime polyps.
Objective: This study assessed whether checkpoint kinase 2 is associated with attenuated or oligopolyposis and characterized the GI clinicopathologic profile.
Landscape of potential germline pathogenic variants in select cancer susceptibility genes in patients with adult-type ovarian granulosa cell tumors.
Cancer Med
June 2024
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Objective: The objective of this study was to assess the frequency of potential germline pathogenic variants that may contribute to risk of development of adult granulosa cell tumors (AGCT) given the paucity of germline testing guidelines for these patients.
Methods: This was a retrospective cross-sectional study analyzing comprehensive genomic profiling (CGP) results of AGCT with the FOXL2 p.C134W mutation submitted to Foundation Medicine between 2012 and 2022.
Relationship between the Expression of CHK2 and p53 in Tumor Tissue and the Course of Papillary Thyroid Cancer in Patients with Germline Mutations.
Cancers (Basel)
February 2024
Collegium Medicum, Jan Kochanowski University, 25-317 Kielce, Poland.
The aim of this study was to determine whether the expression of CHK2 and p53 in tumor tissue in carriers of germline mutations can serve as a prognostic marker for PTC, and whether and copy numbers correlates with the course of PTC disease. This study included 156 PTC patients previously tested for the presence of . Clinicopathological features, treatment response, disease outcome, and germline mutation status of the gene were assessed with respect to CHK2 and p53 expression, and and gene copy statuses.
View Article and Find Full Text PDFCHEK2 germline variants identified in familial nonmedullary thyroid cancer lead to impaired protein structure and function.
J Biol Chem
March 2024
Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal. Electronic address:
Approximately 5 to 15% of nonmedullary thyroid cancers (NMTC) present in a familial form (familial nonmedullary thyroid cancers [FNMTC]). The genetic basis of FNMTC remains largely unknown, representing a limitation for diagnostic and clinical management. Recently, germline mutations in DNA repair-related genes have been described in cases with thyroid cancer (TC), suggesting a role in FNMTC etiology.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!