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Methylation patterns in dysplasia in inflammatory bowel disease patients
Rosa, Isadora; Silva, Patricia; da Mata, Sara; Magro, Fernando; Carneiro, Fatima; Peixoto, Armando; Silva, Marco; Sousa, Helena Tavares; Roseira, JoanaBackground and aims:Inflammatory Bowel Disease (IBD) with colonic involvement increases colorectal cancer risk. However, the distinction between IBD related and sporadic dysplasia in IBD patients is difficult. Some data favors the importance of abnormal DNA methylation in IBD-related carcinogenesis. We aimed to define methylation patterns in patients with colonic cancer or dysplasia diagnosis following an IBD d...
Endoscopic ultrasound with fine needle aspiration is useful in pancreatic cysts...
Faias, Sandra; Cravo, Marília; Pereira da Silva, João; Chaves, Paula; Dias Pereira, A.Background: In current guidelines, endoscopic ultrasound with fne-needle aspiration (EUS-FNA) is recommended in pancreatic cystic lesions (PCLs) with worrisome features (size≥3 cm, mural nodule, or Wirsung dilation). Objective: To evaluate the diagnostic ability and assess the accuracy of EUS-FNA in PCLs smaller than 3 cm. Methods: Retrospective study of PCLs<3 cm (2007–2016) undergoing EUS-FNA. Clinical, EUS a...
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 ...