High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

González-Acosta M., Marín F., Puliafito B., Bonifaci N., Fernández A., Navarro M., ...More

Journal of medical genetics, vol.57, pp.269-273, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 57
  • Publication Date: 2020
  • Doi Number: 10.1136/jmedgenet-2019-106272
  • Journal Name: Journal of medical genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE
  • Page Numbers: pp.269-273
  • Keywords: 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: Yes


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.