Genetic factors in colorectal cancer
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Abstract
Abstract
Aim: Microsatellite instability (MSI) is an important biomarker associated with mismatch repair (MMR) deficiency, hereditary cancer syndromes, and response to immunotherapy.This study aimed to evaluate the distribution of MSI status in a heterogeneous cancer cohort and to investigate the relationship between MSI findings and accompanying germline pathogenic or likely pathogenic variants.Methods: This retrospective, single-center cohort study included 240 cancer patients who simultaneously underwent MSI analysis (n=240) and germline genetic testing (n=101).Patients were classified as MSI-high (MSI-H), MSI-low (MSI-L), or microsatellite stable (MSS).Demographic features, tumor types, and germline variant profiles were evaluated.Pathogenic and likely pathogenic variants were classified according to American College of Medical Genetics and Genomics criteria.Statistical comparisons between MSI-H and MSS groups were performed where applicable.Results: The cohort consisted of 126 females (52.5%) and 114 males (47.5%), with a mean age of 55.8±13.5 years.The most common malignancies were colon cancer, pancreatic cancer, endometrial cancer, gastric cancer, and ovarian cancer.MSI-H status was detected in 34 patients (14.2%),MSI-L status in 3 patients (1.2%), and MSS status in 203 patients (84.6%).Pathogenic or likely pathogenic MMR-related germline variants were identified in 7 individuals (31.8% of those tested; n=22), predominantly involving MSH2, MSH3, and MSH6 genes.Most of these variants demonstrated clinical concordance with Lynch syndrome-associated tumor types.In contrast, MSS patients more frequently harbored pathogenic variants in non-MMR genes, including BRCA1, BRCA2, ATM, RAD51D, and MUTYH.Conclusion: MSI-H tumors appeared to have a higher frequency of MMR-associated germline variants, particularly in Lynch syndrome-related cancers.However, clinically actionable germline variants were also identified in MSS tumors, highlighting the importance of combined MSI and germline genetic evaluation in hereditary cancer assessment.
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@article{Kablan2026Retrospective,
title = {A Retrospective Investigation of Microsatellite Instability (MSI) Testing in a Tertiary Centre Genetic Laboratory},
author = {Ahmet Kablan and Ömür Berna Çakmak Öksüzoğlu},
journal = {Acta haematologica oncologica Turcica.},
year = {2026},
doi = {10.4274/ahot.galenos.2026.2026-6-3},
url = {https://doi.org/10.4274/ahot.galenos.2026.2026-6-3}
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