Proficiency of DNA repair genes and microsatellite instability in operated colorectal cancer patients with clinical suspicion of lynch syndrome

dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorFREITAS, Isabella Nicacio de
dc.contributor.authorCAMPOS, Fabio Guilherme Caserta Maryssael de
dc.contributor.authorALVES, Venancio Avancini Ferreira
dc.contributor.authorCAVALCANTE, Juliana Magalhaes
dc.contributor.authorCARRARO, Dirce
dc.contributor.authorCOUDRY, Renata de Almeida
dc.contributor.authorDINIZ, Marcio Augusto
dc.contributor.authorNAHAS, Sergio Carlos
dc.contributor.authorRIBEIRO JR., Ulysses
dc.date.accessioned2016-07-04T13:58:30Z
dc.date.available2016-07-04T13:58:30Z
dc.date.issued2015
dc.description.abstractBackground: Lynch syndrome (LS) diagnosis is underestimated, and most of the patients remain undetected after colorectal resections. The study aims to assess the frequency of LS in patients undergoing surgical treatment for colorectal cancer (CRC). Methods: A total of 458 CRC patients were operated from January 2005 to December 2008. Positive CRC family history (FH) was present in 118 (25.8%) patients. Histologic sections were reviewed for microsatellite instability (MSI) criteria (Bethesda guidelines), immunohistochemical (IHC) analysis for MLH1, MSH2, MSH6, PMS2 proteins, through the avidin-biotin-peroxidase complex, MSI (BAT-25, BAT-26, NR-21, NR-24 and MONO-27) and BRAF somatic mutation. Results: Of the 118 patients with FH, 61 (51.69%) met at least one of the revised Bethesda criteria. IHC was abnormal in 8 (13.1%) and MSI in 12 patients (20%). BRAF was negative in all cases. MSI histopathological included: intratumoral lymphocytes (47.5%), expansive tumors (29.5%) mucinous component (27.8%) and Crohn's like reaction in (14.7%). There was an association between the revised Bethesda criteria with: sex, mucinous histology and Crohn's like reaction; MSI and IHC with PMS2 and MLH1. Revised Bethesda criteria 4 had 10.6 increased chances to display positive MSI. We have proposed a score to contribute as a practical tool in the diagnosis of LS. Conclusions: The frequence of LS in resected CRC patients was 2.6%. The criterion 4 Revised Bethesda was associated more strongly with the presence of MSI.
dc.description.indexPubMed
dc.identifier.citationJOURNAL OF GASTROINTESTINAL ONCOLOGY, v.6, n.6, p.628-637, 2015
dc.identifier.doi10.3978/j.issn.2078-6891.2015.089
dc.identifier.eissn2219-679X
dc.identifier.issn2078-6891
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/13981
dc.language.isoeng
dc.publisherPIONEER BIOSCIENCE PUBL CO
dc.relation.ispartofJournal of Gastrointestinal Oncology
dc.rightsopenAccess
dc.rights.holderCopyright PIONEER BIOSCIENCE PUBL CO
dc.subjectHereditary nonpolyposis colorectal cancer (HNPCC)
dc.subjectimmunohistochemical (IHC)
dc.subjectlynch syndrome (LS)
dc.subjectmicrosatellite instability (MSI)
dc.subjectB-raf
dc.subject.otherrevised bethesda guidelines
dc.subject.otherhnpcc
dc.subject.otherrisk
dc.subject.otheridentification
dc.subject.othermutations
dc.subject.otherimmunohistochemistry
dc.subject.othercarcinomas
dc.subject.othermanagement
dc.subject.otherpathology
dc.subject.otherfeatures
dc.subject.wosOncology
dc.titleProficiency of DNA repair genes and microsatellite instability in operated colorectal cancer patients with clinical suspicion of lynch syndrome
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.author.externalCAVALCANTE, Juliana Magalhaes:Hosp AC Camargo Fund Antonio Prudente, Sao Paulo, SP, Brazil
hcfmusp.author.externalCARRARO, Dirce:Hosp AC Camargo Fund Antonio Prudente, Sao Paulo, SP, Brazil
hcfmusp.author.externalCOUDRY, Renata de Almeida:Hosp AC Camargo Fund Antonio Prudente, Sao Paulo, SP, Brazil
hcfmusp.author.externalDINIZ, Marcio Augusto:Univ Sao Paulo, Sch Med, Dept Gastroenterol & Pathol, Sao Paulo, SP, Brazil
hcfmusp.citation.scopus8
hcfmusp.contributor.author-fmusphcISABELLA NICACIO DE FREITAS
hcfmusp.contributor.author-fmusphcFABIO GUILHERME CASERTA MARYSSAEL DE CAMPOS
hcfmusp.contributor.author-fmusphcVENANCIO AVANCINI FERREIRA ALVES
hcfmusp.contributor.author-fmusphcSERGIO CARLOS NAHAS
hcfmusp.contributor.author-fmusphcULYSSES RIBEIRO JUNIOR
hcfmusp.description.beginpage628
hcfmusp.description.endpage637
hcfmusp.description.issue6
hcfmusp.description.volume6
hcfmusp.origemWOS
hcfmusp.origem.pubmed26697194
hcfmusp.origem.scopus2-s2.0-84995768017
hcfmusp.origem.wosWOS:000366908400007
hcfmusp.publisher.cityHONG KONG
hcfmusp.publisher.countryPEOPLES R CHINA
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