Journal of medical genetics, vol.57, pp.269-273, 2020 (SCI-Expanded)
Article / Article
Journal of medical genetics
Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE
lynch syndrome, constitutional mismatch repair deficiency, microsatellite instability, next generation sequencing, highly sensitive methodologies, EUROPEAN CONSORTIUM CARE, LYNCH SYNDROME, GUIDELINES, DIAGNOSIS, ONSET, MLH1
Kocaeli University Affiliated:
Introduction Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are hereditary cancer syndromes associated with mismatch repair (MMR) deficiency. Tumours show microsatellite instability (MSI), also reported at low levels in non-neoplastic tissues. Our aim was to evaluate the performance of high-sensitivity MSI (hs-MSI) assessment for the identification of LS and CMMRD in non-neoplastic tissues.