Hereditary Tumours of the Digestive System

Access procedure for patients with a suspected family history:
You must book an initial genetic counselling appointment by calling 02 2390 2540 on Mondays, Wednesdays, Thursdays and Fridays between 9.30 am and 12.30 pm and between 2.30 pm and 4.00 pm.

The clinical work of the “Hereditary Tumours of the Digestive System” Unit is carried out on a multidisciplinary basis, involving various departments in the diagnosis and treatment of hereditary syndromes associated with tumours of the digestive system.
In general, patients are offered genetic counselling and, where appropriate, predictive genetic testing for currently known genes (APC, MUTYH, STK11, CDH1, MLH1, MSH2, MSH6, PMS2, PTEN, SMAD4 and LKB1) depending on the clinical and family history, the formulation of a diagnosis, and the planning of follow-up programmes, as well as endoscopic and/or surgical treatment.
The unit provides comprehensive care for patients and at-risk family members throughout their clinical journey, from diagnosis and treatment through to post-operative follow-up and the management of any extracolonic manifestations, in collaboration with other institutional departments. It also offers administrative and organisational support for exemptions, booking tests, referrals, etc. Where necessary, socio-psychological and nutritional support is also provided for patients attending the facility.

The “Hereditary Cancers of the Digestive System” Simple Structure collects clinical and molecular data, as well as family trees (of affected patients and at-risk relatives), from families with a genetic predisposition to developing cancers of the digestive system.

For each proband (the first individual in the family referred to the unit), the family tree has been reconstructed (extending it to at least three generations); detailed clinical documentation was collected to define the disease, an appropriate clinical follow-up programme was initiated, and the biological material required for molecular analyses (search for germline mutations, immunohistochemical analyses, microsatellite instability and search for somatic mutations in paraffin-embedded tissue) was collected, stored and kept available. Finally, all data were entered into specific management databases.

The following details are provided for each condition (data updated to 2014).

• 940 FAP families, comprising a total of approximately 6,500 individuals, including probands and at-risk relatives. In approximately 500 families, a mutation in the APC or MUTYH gene has been identified;
• 1,360 families with Lynch syndrome or suspected Lynch syndrome (HNPCC/HNPCC-like), totalling approximately 7,000 individuals, including probands and at-risk relatives. A mutation in one of the MMR genes has been identified in 260 families;
• 1,000 families with individuals having a family history of non-HNPCC colorectal cancer;
• 29 families with Peutz-Jeghers syndrome, of which 11 families were found to carry a mutation in the STK11 gene;
• 113 families with gastric cancer.

The Hereditary Gastrointestinal Cancer Unit is currently involved in the following research projects and studies:

1. “Strategies for identifying individuals at risk of hereditary cancers” as part of the ROL project (Lombardy Oncology Network);
2. “Hereditary predisposition: estimating the risk of developing cancer” as part of the 5xmille funding scheme (2008) – Ministry of Health;
3. “CAPP3” international chemoprevention study.

The Hereditary Gastrointestinal Cancer Unit collaborates with the following external institutions:

• IFOM - FIRC Institute of Molecular Oncology;
• Experimental Oncology at the Aviano Oncology Reference Centre;
• Ospedale Circolo di Varese – University of Insubria;
• Laboratory of Human Genetics/Tumour Genetics – University of Pavia;
• University of Milan;
• IRCCS AOU San Martino - IST Genoa;
• G. D’Annunzio University of Chieti Pescara.

The head of the unit is the regional coordinator of the PDTA group – Diagnostic and Therapeutic Pathways for Familial Polyposis. He is also a member of the European Group (Mallorca) on hereditary colorectal diseases, responsible for drafting guidelines.

Hereditary disorders of the digestive system