Colorectal cancer can run in the family. Familial Adenomatous Polyposis and Lynch Syndrome are in fact diseases – rare and hereditary – which increase the risk of developing neoplasia, even at a young age. Precisely in these cases, screening and genetics make the difference: thanks to sophisticated blood tests, today it is possible to identify the specific mutations that cause the two conditions. These biomolecular tests, which are performed only in accredited reference centers, allow early diagnoses and the undertaking of a personalized care path.
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What is polyposis
Familial adenomatous polyposis is characterized by the presence of a “carpet” of benign polyps in the colorectum. They usually appear between the ages of 10 and 25, and can turn into cancer within 10 years. The disease is caused by a genetic mutation in the APC gene and, in even rarer forms, by a mutation in the MUTYH gene. Carriers of APC gene mutations have a 50% chance of transmitting the disease to each of their children; in the case of the MUTYH mutation, however, it is necessary for both parents to transmit the mutation for the child to develop the disease.
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Colonoscopy allows you to recognize the presence of polyps in the colon and rectum, but diagnostic confirmation is obtained after genetic testing. If the gene mutation is identified, as in the majority of cases, the medical team invites the test to be extended to all first-degree family members, to identify carriers of the disease and include them in screening and surveillance programs.
What is Lynch Syndrome
Lynch Syndrome is instead determined by a mutation in the Mismatch Repair genes, the DNA repairers, which predisposes to the development of tumors in various organs, in particular the colon, rectum and endometrium, but also (with lower frequency) in stomach, ovary, kidneys, small intestine, pancreas, biliary tract, breast and prostate. In this case, the warning signs are a positive family history of colorectal cancer, other tumors of the syndrome spectrum, colorectal or endometrial cancer under the age of 40, development of multiple primary tumors affecting the colon. The clinical criteria used to select subjects to be screened today allow us to identify approximately one third of patients affected by the syndrome.
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The route at the Ifo center in Rome
“The screening processes for these rare syndromes offer a prevention opportunity to be supported, expanded and disseminated in order to carry out early diagnostics and undertake a personalized care path”, underlines Vittoria Stigliano, Head of IRE Gastroenterology and Digestive Endoscopy and Rare Diseases Representative of the Regina Elena National Institute (IFO) in Rome, where a clinic dedicated to hereditary tumors of the digestive system has been active for over 40 years (which has also been a Reference Center since 2005 Regional within the National Network of Rare Diseases). All patients operated on for colorectal or endometrial cancer are subjected to a molecular test on the surgical specimen and, in case of a positive result, a genetic test is performed on blood. “In our clinic, 390 patients with Lynch Syndrome and 250 patients with Familial Adenomatous Polyposis have been treated – explains Stigliano – but we also follow all other forms of Polyposis such as Juvenile Polyposis, Multiple Polyposis, Serrated Polyposis, of Peutz Jeghers, familial tumors of the colon, familial or suspected hereditary tumors of the stomach and pancreas. At the moment, approximately 700 patients, both affected and carriers, are under follow-up”. Currently, concludes the expert, the Lazio Region, adapting to the National Oncology Plan, is evaluating the feasibility of a structured path in the context of screening on the general population.
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