Allelotyping, Microsatellite Instability, and BRAF Mutation Analyses in Common and Atypical Melanocytic Nevi and Primary Cutaneous Melanomas

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dc.contributor.authorUribe, Pablo
dc.contributor.authorWistuba, Ignacio I.
dc.contributor.authorGonzalez, Sergio
dc.date.accessioned2024-01-10T12:04:09Z
dc.date.available2024-01-10T12:04:09Z
dc.date.issued2009
dc.description.abstractLoss of heterozygosity (LOH) in several chromosomal regions is found in melanoma, and it has been partially studied in nevi. BRAF mutations are found in melanoma and nevi and in colorectal cancer are linked to mismatch repair deficiency. We studied early genetic events involved in melanomagenesis through analysis of allelic loss, microsatellite instability (MSI), and BRAF mutations.
dc.description.abstractDNA extracted from microdissected cells of 22 common nevi, 23 atypical nevi, and 25 primary cutaneous melanomas were examined for LOH and MSI by polymerase chain reaction-based analysis of 24 microsatellite markers and BRAF mutation. Allelic loss index was higher in atypical nevi (0.20) and melanomas (0.27) than common nevi (0.07). LOFT was frequent at 9p21, 17q21, 6q231 and 5q35 in melanoma. LOH at any of this loci occurred in 27% of common nevi, 57% of atypical nevi, and 68% of melanomas. BRAF mutations were not related to MSI presence and MSI index was not related with BRAF mutational Status. Similar genetic alterations in atypical nevi and melanomas support the concept of atypical nevus as melanoma precursor. Novel deletion loci at 5q35 and 17q21 (BRCA1) in atypical nevi and melanomas were identified. Mismatch repair deficiency is not a crucial event for BRAF mutation in melanocytic tumors.
dc.description.funderFondo Nacional de Desarrollo Cientifico y Tecnologico, Chile
dc.description.funderFacultad de Medicina, Pontificia Universidad Catolica de Chile
dc.description.funderNATIONAL CANCER INSTITUTE
dc.fechaingreso.objetodigital2024-05-16
dc.format.extent10 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1097/DAD.0b013e318185d205
dc.identifier.eissn1533-0311
dc.identifier.issn0193-1091
dc.identifier.pubmedidMEDLINE:19461239
dc.identifier.urihttps://doi.org/10.1097/DAD.0b013e318185d205
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/75705
dc.identifier.wosidWOS:000266336400006
dc.information.autorucMedicina;González S;S/I;99856
dc.information.autorucMedicina;Uribe P;S/I;9032
dc.information.autorucMedicina;Wistuba II;S/I;100278
dc.issue.numero4
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final363
dc.pagina.inicio354
dc.publisherLIPPINCOTT WILLIAMS & WILKINS
dc.revistaAMERICAN JOURNAL OF DERMATOPATHOLOGY
dc.rightsacceso restringido
dc.subjectLOH
dc.subjectMSI
dc.subjectBRAF
dc.subjectmelanoma
dc.subjectnevi
dc.subjectEPITHELIAL OVARIAN-CANCER
dc.subjectSPORADIC DYSPLASTIC NEVUS
dc.subjectTUMOR-SUPPRESSOR GENES
dc.subjectHUMAN LUNG-CANCER
dc.subjectMISMATCH-REPAIR
dc.subjectALLELE LOSS
dc.subjectBRONCHIAL EPITHELIUM
dc.subjectMALIGNANT-MELANOMA
dc.subjectMOLECULAR-CHANGES
dc.subjectCHROMOSOME 3P
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleAllelotyping, Microsatellite Instability, and BRAF Mutation Analyses in Common and Atypical Melanocytic Nevi and Primary Cutaneous Melanomas
dc.typeartículo
dc.volumen31
sipa.codpersvinculados99856
sipa.codpersvinculados9032
sipa.codpersvinculados100278
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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