de Leon, M. Ponz; Benatti, P.; Pedroni, M.; Borghi, F.; Scarselli, A.; Di Gregorio, C.; Losi, L.; Rossi, G.; Roncucci, L.
April 2003
Gut;Apr2003 Supplement 1, Vol. 52, pA29
Academic Journal
Although many factors contribute to the development of colorectal tumours, the only clearly identified aetiological factors include inheritance (Lynch syndrome (HNPCC) and familial polyposis (FAP)), inflammatory bowel diseases (ulcerative colitis and Crohn's disease, IBD), papillomavirus and AIDS (HIV). Purpose: To find our what proportion of colorectal malignancies can be attributed to each of these specific factors. Patients and Methods: Data ora colorectal cancer registry have been analysed, over a period of 15 years, during which nearly 2500 cases were recorded. In patients with clinical suspicion of hereditary tumours, microsatellite instability was assessed, and in positive families constitutional mutations of the main mismatch repair genes (hMSH2, hMLH1, hMSH6) were evaluated by single strand conformation polymorphism and sequencing. Results: IBD, FAP, and AIDS were rare causes of colorectal cancer (3, 3 and 1 cases, respectively). Anal squamous carcinoma (attributed to papillomavirus infection) developed in 27 patients (1.0%). In 58 patients (from 34 families) a clinical diagnosis of HNPCC could be established (2.4% of the total). Altogether, cases with a know aetiology (N = 92) accounted for only 3.7% of all patients. Microsatellite instability was found in 15 HNPCC families, while germ line mutations in one of the mismatch repair genes were detected in 6 families (12 patients, 0.5% of the total). Microsatellite positive families, regardless the mutational status, were clinically similar, thus suggesting an involvement of the mismatch repair system even when mutations were not detected. Conclusion: The study suggests that the aetiology of colorectal neoplasms remains elusive in the large majority of cases. Among specific causes, HNPCC represents by far the most frequent. However, by using a population based approach, constitutional mutations of the main genes responsible for HNPCC can be detected in only 20% of the cases.


Related Articles

  • Fenotipo e historia natural de la enfermedad inflamatoria intestinal en un centro de referencia en Medell�n-Colombia. Ba�os, Fabi�n Juliao; V�lez, Mario Hern�n Ruiz; Arango, Jos� Fernando Fl�rez; G�mez, Jorge Hernando Donado; Zuluaga, Juan Ignacio Mar�n; Arango, Claudia Monsalve; G�mez, Carlos Andr�s Jim�nez; Zapata, Yineth Agudelo; Velayos, Fernando S. // Revista Colombiana de Gastroenterolog�a;Jul2012, Vol. 25 Issue 3, p240 

    Worldwide the frequencies of inflammatory bowel disease, ulcerative colitis and Crohn�s disease have all increased. In our own environment it has become necessary to establish the epidemiology of these entities and to determine their clinical and endoscopic behavior. Methodology: This is a...

  • In siblings with similar genetic susceptibility for inflammatory bowel disease, smokers tend to develop Crohn's disease and non-smokers develop ulcerative colitis. Bridger, S.; Lee, J.C.W.; Bjarnason, I.; Lennard Jones, J.E.; Macpherson, A.J. // Gut;Jul2002, Vol. 51 Issue 1, p21 

    Background and aims: Smoking tobacco has opposite effects on the different forms of inflammatory bowel disease (IBD). It predisposes to the development of Crohn's disease (CD) yet is associated with a reduced incidence of ulcerative colitis (UC). We have studied sib pairs discordant for both...

  • Inflammatory bowel disease. O'Malley, John; Spinks, Julian // Pulse;5/25/2011, Vol. 71 Issue 19, p16 

    The article presents questions and answers related to irritable bowel syndrome (IBS) and inflammatory bowel disease (IBD), including the diagnostic process of IBD, what drug therapy to treat Crohn's disease, and the risk of cancer with ulcerative colitis.

  • Inflammatory bowel diseases.  // Mayo Clinic Health Letter;Oct2001, Vol. 19 Issue 10, p1 

    Discusses inflammatory bowel diseases. Etiology; Difference between Crohn's disease and ulcerative colitis; Signs and symptoms; Diagnostic techniques; Cancer risks; Treatment strategies. INSET: Colon cancer risks..

  • Kallikrein-kinin system activation in Crohn’s disease: differences in intestinal and systemic markers Devani, Massimo; Cugno, Massimo; Vecchi, Maurizio; Ferrero, Stefano; Di Berardino, Federica; Avesani, Ettore Contessini; de Franchis, Roberto; Colman, Robert W. // American Journal of Gastroenterology;Aug2002, Vol. 97 Issue 8, p2026 

    OBJECTIVES:Observations in experimental models and in human ulcerative colitis suggest that activation of the kallikrein-kinin system plays a role in the pathogenesis of inflammatory bowel disease. The aim of this study was to assess activation of the plasma and tissue kallikrein-kinin system in...

  • Unlocking the secrets of IBD. SerVaas, Cory // Saturday Evening Post;Jan/Feb94, Vol. 266 Issue 1, p42 

    Presents interviews with seven inflammatory disease specialists. Case for cyclosporine; Tracing genetic links; Choosing the right treatment; Longevity, pregnancy and new drugs; Alternatives to lleostomy; Iron and IBD; What causes IBD? INSETS: Now in remission, by Patrick Perry.;A cse of the...

  • A population-based study of familial clustering of inflammatory bowel disease in Florence. Palli, Domenico; Saieva, Calogero; Trallori, Giacomo; Bardazzi, Gabrielle; D'albasio, Guiseppe; Milla, Monica; Galli, Monica; Tarantino, Ottaviano; Pacini, Franco // European Journal of Public Health;Mar1997, Vol. 7 Issue 1, p109 

    Presents a study that investigated familial clustering of inflammatory bowel disease (IBD) in Florence, Italy. Information on ulcerative colitis and Crohn's disease; IBD diagnosis; Methods used in the study; Results and discussion.

  • Inflammatory bowel disease. Veronesi, James // RN;May2003, Vol. 66 Issue 5, p38 

    Discusses two types of inflammatory bowel disease (IBD): Crohn's disease and ulcerative colitis. Common signs and symptoms; Theories on the role of the immune system in the development of IBD; Distinctions between Crohn's and ulcerative colitis; Medical management; Surgical intervention;...

  • Factors Affecting Surgical Risk in Elderly Patients With Inflammatory Bowel Disease Page, Michael J.; Poritz, Lisa S.; Kunselman, Susan J.; Koltun, Walter A. // Journal of Gastrointestinal Surgery;Jul2002, Vol. 6 Issue 4, p606 

    The operative treatment of elderly patients with inflammatory bowel disease (IBD) has often been avoided in favor of medical management because of a perceived increase in surgical risk. This study sought to define the following in the elderly IBD patient population: (1) the risk of surgical...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics