3 documents found, page 1 of 1
Gastroenteropancreatic Neuroendocrine Neoplasia Characterization in Portugal: R...
Santos, A.; Vinagre, J.; Soares, P.; Claro, I.; Sanches, A.; Gomes, L.; Fernandes, I.; Catarino, A.; Preto, J.; Pereira, B.; Marques, A.; Rodrigues, F.Background: The incidence of gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs) has been increasing in the last five decades, but there is no large-scale data regarding these tumours in Portugal. We conducted a cross-sectional, multicentric study in main Portuguese centers to evaluate the clinical, pathological, and therapeutic profile of GEP-NENs. Methods: From November, 2012, to July, 2014, data from ...
Distinct spectrum of apc germline mutations in familial adenomatous polyposis a...
Filipe, B.; Claro, I.; Lage, P.; Ferreira, S.; Rosa, I.; Rodrigues, P.; Spier, I.; Theisen, Patrícia; Pereira-Caetano, Iris; Isidro, GlóriaIntroduction: Familial adenomatous polyposis (FAP) is caused by APC germline mutations. These have been reported in classic and attenuated FAP (AFAP) but only two hotspots were described (codons 1309 and 1061-range:0-15%). We aimed to characterize the APC mutation spectrum in a FAP/AFAP population from the familial polyposis registry of the Portuguese Oncology Institute in Lisbon. Methods: We performed mutation...
The MSH2 exon 5 deletion (c.792+8_943-450del) is a founder mutation in Portugue...
Francisco, Inês; Claro, I.; Lage, P.; Ferreira, S.; Rosa, I.; Rodrigues, P.; Theisen, Periera; Pereira-Caetano, Iris; van der Klift, H.; Tops, C.Introduction: Lynch syndrome (LS) is a hereditary colorectal cancer syndrome caused by germline mutations in the DNA mismatch repair (MMR) genes. Worldwide, large genomic deletions, particularly in MSH2 gene, account for ~20% of the mutational spectrum. The aim of this study was to evaluate a possible founder effect of a recurrent exon 5 deletion in MSH2 gene, detected in 10% of the families from the LS family ...