Proficiency of DNA repair genes and microsatellite instability in operated colorectal cancer patients with clinical suspicion of lynch syndrome
dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | |
dc.contributor.author | FREITAS, Isabella Nicacio de | |
dc.contributor.author | CAMPOS, Fabio Guilherme Caserta Maryssael de | |
dc.contributor.author | ALVES, Venancio Avancini Ferreira | |
dc.contributor.author | CAVALCANTE, Juliana Magalhaes | |
dc.contributor.author | CARRARO, Dirce | |
dc.contributor.author | COUDRY, Renata de Almeida | |
dc.contributor.author | DINIZ, Marcio Augusto | |
dc.contributor.author | NAHAS, Sergio Carlos | |
dc.contributor.author | RIBEIRO JR., Ulysses | |
dc.date.accessioned | 2016-07-04T13:58:30Z | |
dc.date.available | 2016-07-04T13:58:30Z | |
dc.date.issued | 2015 | |
dc.description.abstract | Background: 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.index | PubMed | |
dc.identifier.citation | JOURNAL OF GASTROINTESTINAL ONCOLOGY, v.6, n.6, p.628-637, 2015 | |
dc.identifier.doi | 10.3978/j.issn.2078-6891.2015.089 | |
dc.identifier.eissn | 2219-679X | |
dc.identifier.issn | 2078-6891 | |
dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/13981 | |
dc.language.iso | eng | |
dc.publisher | PIONEER BIOSCIENCE PUBL CO | |
dc.relation.ispartof | Journal of Gastrointestinal Oncology | |
dc.rights | openAccess | |
dc.rights.holder | Copyright PIONEER BIOSCIENCE PUBL CO | |
dc.subject | Hereditary nonpolyposis colorectal cancer (HNPCC) | |
dc.subject | immunohistochemical (IHC) | |
dc.subject | lynch syndrome (LS) | |
dc.subject | microsatellite instability (MSI) | |
dc.subject | B-raf | |
dc.subject.other | revised bethesda guidelines | |
dc.subject.other | hnpcc | |
dc.subject.other | risk | |
dc.subject.other | identification | |
dc.subject.other | mutations | |
dc.subject.other | immunohistochemistry | |
dc.subject.other | carcinomas | |
dc.subject.other | management | |
dc.subject.other | pathology | |
dc.subject.other | features | |
dc.subject.wos | Oncology | |
dc.title | Proficiency of DNA repair genes and microsatellite instability in operated colorectal cancer patients with clinical suspicion of lynch syndrome | |
dc.type | article | |
dc.type.category | original article | |
dc.type.version | publishedVersion | |
dspace.entity.type | Publication | |
hcfmusp.author.external | CAVALCANTE, Juliana Magalhaes:Hosp AC Camargo Fund Antonio Prudente, Sao Paulo, SP, Brazil | |
hcfmusp.author.external | CARRARO, Dirce:Hosp AC Camargo Fund Antonio Prudente, Sao Paulo, SP, Brazil | |
hcfmusp.author.external | COUDRY, Renata de Almeida:Hosp AC Camargo Fund Antonio Prudente, Sao Paulo, SP, Brazil | |
hcfmusp.author.external | DINIZ, Marcio Augusto:Univ Sao Paulo, Sch Med, Dept Gastroenterol & Pathol, Sao Paulo, SP, Brazil | |
hcfmusp.citation.scopus | 8 | |
hcfmusp.contributor.author-fmusphc | ISABELLA NICACIO DE FREITAS | |
hcfmusp.contributor.author-fmusphc | FABIO GUILHERME CASERTA MARYSSAEL DE CAMPOS | |
hcfmusp.contributor.author-fmusphc | VENANCIO AVANCINI FERREIRA ALVES | |
hcfmusp.contributor.author-fmusphc | SERGIO CARLOS NAHAS | |
hcfmusp.contributor.author-fmusphc | ULYSSES RIBEIRO JUNIOR | |
hcfmusp.description.beginpage | 628 | |
hcfmusp.description.endpage | 637 | |
hcfmusp.description.issue | 6 | |
hcfmusp.description.volume | 6 | |
hcfmusp.origem | WOS | |
hcfmusp.origem.pubmed | 26697194 | |
hcfmusp.origem.scopus | 2-s2.0-84995768017 | |
hcfmusp.origem.wos | WOS:000366908400007 | |
hcfmusp.publisher.city | HONG KONG | |
hcfmusp.publisher.country | PEOPLES R CHINA | |
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hcfmusp.scopus.lastupdate | 2024-05-17 | |
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