A5022544849- Genetic factors in colorectal cancer
- Colorectal Cancer Screening and Detection
- Colorectal and Anal Carcinomas
- Gastric Cancer Management and Outcomes
- Colorectal Cancer Treatments and Studies
- Cancer Genomics and Diagnostics
- Gastrointestinal Tumor Research and Treatment
- Esophageal and GI Pathology
- Esophageal Cancer Research and Treatment
- Colorectal Cancer Surgical Treatments
- Digestive system and related health
- Helicobacter pylori-related gastroenterology studies
- Multiple and Secondary Primary Cancers
- Myasthenia Gravis and Thymoma
- Cancer-related gene regulation
- Lymphoma Diagnosis and Treatment
- Clinical Nutrition and Gastroenterology
- Soft tissue tumor case studies
- Metastasis and carcinoma case studies
- DNA Repair Mechanisms
- Legume Nitrogen Fixing Symbiosis
- Wnt/β-catenin signaling in development and cancer
- Dysphagia Assessment and Management
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Radiation Effects and Dosimetry
Instituto Português de Oncologia de Coimbra Francisco Gentil
2002-2024
Instituto Português de Oncologia Francisco Gentil
1998-2024
Cancer Clinic
2019
IPO Porto
1998-2015
Kyoto University
1998
Dokkyo University
1998
According to the classical interpretation of Knudson's 'two-hit' hypothesis for tumorigenesis, two 'hits' are independent mutation events, end result which is loss a tumor suppressing function. Recently, it has been shown that APC (adenomatous polyposis coli) gene does not entirely follow this model. Both position and type second hit in familial adenomatous (FAP) polyps depend on localization germline mutation. This non-random distribution somatic hits interpreted as selection more...
There are two well-defined pathways for colorectal carcinogenesis, the suppressor and mutator pathways. The latter is characteristic of hereditary non-polyposis cancer (HNPCC), but can also be found in a subset sporadic (SCC) possessing distinctive clinical pathological features, namely early age onset, location right colon, poor differentiation, predominant mucinous component. This pathway results from inactivation mismatch repair (MMR) genes, MSH2 MLH1. aim this study was to ascertain if...
BACKGROUND: Hyperplastic polyposis (HP) is a rare condition characterized by the presence of multiple hyperplastic polyps in colon, which has been associated to an increased risk colorectal cancer (CRC). Guidelines for management this disease remain, so far, undefined. AIMS: To evaluate, symptomatic patients with HP, phenotypic characteristics as well results screening program their at-risk first-degree relatives. PATIENTS Pedigree information and clinical endoscopic data 14 HP was studied....
Patients presenting familial adenomatous polyposis (FAP), attenuated (AFAP) or multiple colorectal adenomas (MCRAs) phenotype are clinically difficult to distinguish. We aimed genetically characterize 107 well‐characterized patients with FAP‐like phenotype, and stratified according the recent guidelines for clinical management of FAP: FAP, AFAP, MCRA (10–99 adenomas) without family history cancer few (FH), (10–99) FH, (3–9) FH. Overall, APC MUTYH mutations were detected in 42/48 (88%), 14/20...
Abstract It is unclear whether the mutation spectra in WNT genes vary among distinct types of colorectal tumors. We have analyzed mutations specific a cohort 52 tumors and performed meta‐analysis previous studies. Notably, significant differences were found spectra. previously shown that familial adenomatous polyposis, APC somatic are selected to provide “just‐right” level signaling for tumor formation. Here, we encompassing at least two β‐catenin down‐regulating motifs (20 a.a. repeats)...
Gastric mucosa-associated lymphoid tissue (MALT) lymphoma is closely associated with Helicobacter pylori (HP) infection. Our aim was to evaluate demographic, clinical and endoscopic characteristics of gastric MALT patients, as well analyse response treatment factors that affect complete remission (CR) relapse. We also assessed the long-term prognosis.The study involved a retrospective evaluation consecutive patients admitted (1993-2013).A total 144 (76 men; mean age 56) were included. At...
Objective: Previous studies have demonstrated a link betweenHelicobacter pyloriinfection and low grade B-cell gastric MALT lymphoma. The aim of this study was to evaluate the effect ofHelicobacter pylorieradication in 17 patients with lymphoma stage EI. Methods: For disease staging EUS CT scan were systematically performed. Eight excluded from present series because EII diagnosed. To demonstrate monoclonality, immunohistochemistry polymerase chain reaction used.H. performed triple therapy....
Microsatellite instability (MSI) is present in most colorectal cancers (CRC) associated with hereditary nonpolyposis cancer (HNPCC). MSI testing so-called sporadic forms of CRC may become a useful tool identifying new HNPCC kindred. The aim this study was to analyse the utility BAT-26 as marker identify CRCs and investigate whether have phenotypic expression similar cases. detected using two methods, an association 7 poly(CA) repeats poly(A) repeat alone, BAT-26, series 62 patients...
MYH-associated polyposis is an inherited autosomal recessive disease, linked to biallelic germline MYH mutations, which predisposes the development of multiple colorectal adenomas and cancer. The colonic extracolonic phenotype this syndrome very heterogeneous. We report case a young male patient with aggressive phenotype. He presented at aged 30 years more than 100 polyps 4 adenocarcinomas. At 35 years, Spigelman Stage IV duodenal adenomatosis was detected. When he 39 old, developed three...
Introduction: Colorectal cancer (CRC) is extremely rare in pediatric age. A poor outcome has been reported. Aims: We aimed to characterize a group of CRC patients. Materials and Methods: All patients with below 18 years old registered our Familial Cancer Risk Clinic (2002-2016) were included. Clinical histologic features evaluated. Germline mutations, microsatellite instability, DNA mismatch repair proteins expression analyzed. Results: Five included (3 males; mean age at diagnosis: 14.2...
Original Bethesda Guidelines proposed microsatellite instability analysis in colorectal adenomas from patients younger than aged 40 years to identify new cases of Lynch syndrome. We intended evaluate the characteristics determine their status and correlate it with germline mutations MLH1 MSH2 genes.Seventy-two 58 were analyzed. Family history cancer, location, histology evaluated. Microsatellite testing was performed BAT26 only or complete panel. Germline mutational genes.Thirty-five had a...
Colorectal tumors with microsatellite instability (MSI) that do not comply previously defined clinical criteria may be found in recently diagnosed hereditary nonpolyposis colorectal carcinoma families. Until recently, the indications for MSI testing were clearly established. The objective of current study was to validate published Bethesda guidelines a series patients apparently sporadic forms (CRC).Sixty-two so-called CRC included study. analyzed at seven poly(CA) repeat sequences and one...
Recognition of a hereditary colorectal cancer (CRC) syndrome is crucial and Lynch Syndrome (LS) the most frequent immunohistochemistry (IHC)-screening for mismatch repair proteins (MMR) deficiency in CRC therefore advocated. An unicentric cohort study was conducted central Oncological Hospital to assess its results. All patients under 70 years-old admitted between July 2017-June 2019 submitted surgery were included. Of 275 patients, 56.0% male, median age 61.0 (IQR:54.5-65.0), with...
SUMMARY Primary esophageal cancer (EC) frequently presents as a locally advanced disease with airway involvement. Placement of combined and stents has been reported in small series to be an effective palliation strategy. Our aims are present the largest cohort EC patients who underwent double stent evaluate safety efficacy this approach. Longitudinal study primary undergoing two-stage placement at oncology referral institute (January 2000–January 2019). Assessments: baseline demographics...
Narrow-band imaging (NBI) allows "in vivo" classification of colorectal polyps.We evaluated the optical diagnosis by nonexpert community-based endoscopists in routine clinical practice, impact training, and whether could achieve threshold for "do not resect" policy.This was an observational study performed two periods (P1 P2). Endoscopists had no prior experience NBI P1 applied technique on a daily basis 1 year before participation P2. Lesions were classified applying International...