Lynch syndrome and polyposis

Lynch syndrome and polyposis

Thematic group 2

Lynch syndrome and polyposis syndromes are rare inherited conditions where a high lifetime risk to develop gastrointestinal tumours represents the main and dominating feature. The most common of these is bowel cancer (colorectal cancer, CRC). As other hereditary conditions, Lynch and polyposis syndromes follow a certain inheritance pattern and thus are accompanied by an increased recurrence risk in relatives. For most of these syndromes, efficient surveillance programmes are available for patients and healthy mutation carriers to reduce the cancer risk.

 

Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is a group of disorders including Lynch syndrome and familial colorectal cancer type X. Lynch syndrome is one of the most frequent hereditary conditions that increases the risk of developing bowel cancer and a spectrum of other extracolonic tumours, in particular endometrial cancer.

 

Polyposis syndromes are disorders where multiple polyps are present throughout the gastrointestinal tract, which, if not detected early and removed, might result in colorectal cancer. The occurrence of single colorectal polyps is a common and age-related phenomenon, however, if multiple polyps occur, in particular at young age, a genetic predisposition is likely. Depending on the type of polyps, several polyposis syndromes can be identified, which differ in terms of age at onset, polyp number and distribution, CRC risk and the likelihood to develop tumuors and other symptoms outside the gastrointestinal tract. The most relevant polyposis syndromes can be divided in two main groups: 

• Adenomatous polyposis syndromes (Familial adenomatous polyposis, Attenuated familial adenomatous polyposis including APC-related attenuated familial adenomatous polyposis, AXIN2-associated polyposis, MUTYH-associated polyposis, Polymerase proofreading associated polyposis, NTHL1-associated polyposis, MSH3-associated polyposis)
• Hamartomatous and other polyposis syndromes (Peutz-Jeghers syndrome, Juvenile polyposis syndrome, Serrated polyposis syndrome, Hereditary mixed polyposis syndrome)
• Gastric adenocarcinoma and proximal polyposis of the stomach

 

Thematic leads

The thematic leads for Lynch syndrome and polyposis are:

Verena Steinke-Lange, clinical geneticist at the Medical Genetics Center in Munich, Germany

 

Anja Wagner, oncogeneticist at the Erasmus MC in Rotterdam, the Netherlands.

 

Patient representatives

Nicola Reents (L), secretary of Familienhilfe Darmkrebs e.V. / Semi-Colon (German patient association for Lynch and Polyposis) and Georgina Hoffmann (R), member of Familienhilfe Darmkrebs e.V. / Semi-Colon

 

Jurgen Seppen, chairman of the Dutch Lynch and Polyposis Foundation.

 

A non-exhaustive list of patient associations for genetic tumour risk syndromes in EU member states can be found here.

 

Healthcare Providers with expertise in Thematic Group 2 Lynch syndrome and polyposis

Country	City	Name of Healthcare Provider
Austria	Innsbruck	Medical University of Innsbruck*
Belgium	Ghent	Ghent University Hospital
	Leuven	University Hospital Leuven
Czech Republic	Brno	Masaryk Memorial Cancer Institute
Finland	Helsinki	GENTURISFINSN consortium (HUS Helsinki University Hospital and OYS Oulu University Hospital)
France	Rouen	Rouen University Hospital
Germany	Bonn	Center for Hereditary Tumor Syndromes (CHT), University Hospital Bonn
	Dresden	Hereditary Cancer Syndrome Center Dresden
	Hamburg	Universitätsklinikum Hamburg-Eppendorf
	Munich	Medizinisch Genetisches Zentrum
Hungary	Pécs	University of Pécs
Italy	Bologna	Azienda Ospedaliero-Universitaria di Bologna
	Milan	Fondazione IRCCS Istituto Nazionale dei Tumori
	Rome	Fondazione Policlinico Universitario A. Gemelli
	Siena	Azienda Ospedaliero-Universitaria Senese
Lithuania	Vilnius	Vilniaus universiteto ligoninės Santaros klinikos
Netherlands	Amsterdam	Netherlands Cancer Institute - Antoni van Leeuwenhoek
	Groningen	University Medical Center Groningen
	Leiden	Leiden University Medical Center
	Nijmegen	Radboud university medical center
	Rotterdam	Erasmus Medical Center
Norway	Bergen	Haukeland University Hospital*
Poland	Szczecin	Pomeranian Medical University - University Clinical Hospital no 1
Portugal	Lisbon	Instituto Português de Oncologia de Lisboa Francisco Gentil, EPE
	Porto	Centro Hospitalar Universitário de São João - CHUSJ
Spain	Barcelona	Hospital Germans Trias I Pujol - lnstitut Catala d'Oncologia
Sweden	Stockholm	Karolinska University Hospital

 

*These HCPs are Affiliated Partners of ERN GENTURIS