Lynch syndrome: selection of families by microsatellite instability and immunohistochemistry

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dc.contributor.authorMaria Wielandt, Ana
dc.contributor.authorZarate, Alejandro J.
dc.contributor.authorHurtado, Claudia
dc.contributor.authorOrellana, Paulina
dc.contributor.authorAlvarez, Karin
dc.contributor.authorPinto, Eliana
dc.contributor.authorContreras, Luis
dc.contributor.authorCorvalan, Alejandro
dc.contributor.authorKronberg, Udo
dc.contributor.authorLopez Koestner, Francisco
dc.date.accessioned2024-01-10T12:06:25Z
dc.date.available2024-01-10T12:06:25Z
dc.date.issued2012
dc.description.abstractBackground: Selection of patients with Lynch Syndrome (LS) for a genetic study involves the application of clinical criteria. To increase the rate of identification of mutations, the use of molecular studies as Microsatellite Instability (MSI) and Immunohistochemistry (IHC) in the tumor has been proposed. Aim: To demonstrate the usefulness of MSI and IHC in the detection of mutations in patients with LS. Material and Methods: From our Familial Colorectal Cancer Registry, families suspected of LS were selected according to Amsterdam or Bethesda clinical criteria. Screening of germline mutations of MLH1, MSH2 and MSH6 genes was performed. In addition, analysis of MS I and IHC were performed in colorectal tumors. Results: A total of 35 families were studied (19 met Amsterdam and 16 met Bethesda criteria). Twenty one families harbored a germline alteration in MLH1, MSH2 or MSH6 (18 Amsterdam and 3 Bethesda). In these families, eighteen different alterations were found, 15 of which were mutations and 3 corresponded to variants of uncertain pathogenicity. On the other hand, 80% of the tumors showed positive microsatellite instability (27 MSI-high and 1 MSI-low), and immunohistochemical testing showed that 77% of tumors had the loss of a protein. Correlation between results of tumor molecular studies and the finding of germline nucleotide change showed that IHC and MSI predicted mutations in 81 and 100% of patients, respectively. Conclusions: MSI and IHC can efficiently select patients with a high probability of carrying a mutation in DNA repair genes. (Rev Med Chile 2012; 140: 1132-1139).
dc.fechaingreso.objetodigital2024-05-29
dc.format.extent8 páginas
dc.fuente.origenWOS
dc.identifier.doi10.4067/S0034-98872012000900005
dc.identifier.eissn0717-6163
dc.identifier.issn0034-9887
dc.identifier.pubmedidMEDLINE:23354634
dc.identifier.urihttps://doi.org/10.4067/S0034-98872012000900005
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/76159
dc.identifier.wosidWOS:000310561200005
dc.information.autorucMedicina;Corvalan A;S/I;63885
dc.issue.numero9
dc.language.isoes
dc.nota.accesoContenido completo
dc.pagina.final1139
dc.pagina.inicio1132
dc.publisherSOC MEDICA SANTIAGO
dc.revistaREVISTA MEDICA DE CHILE
dc.rightsacceso abierto
dc.subjectColorectal neoplasms, hereditary non polyposis
dc.subjectLynch syndrome
dc.subjectMicrosatellite instability
dc.subjectNONPOLYPOSIS COLORECTAL-CANCER
dc.subjectINSTITUTE WORKSHOP
dc.subjectRISK
dc.subjectMUTATIONS
dc.subjectCRITERIA
dc.subjectDNA
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleLynch syndrome: selection of families by microsatellite instability and immunohistochemistry
dc.typeartículo
dc.volumen140
sipa.codpersvinculados63885
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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