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:

Stefan Aretzprofessor of genetics of familial tumour syndromes and deputy head at the Institute of Human Genetics, University Hospital of Bonn, Germany

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Chella van der Post, pathologist at the Radboud university medical centre in Nijmegen, the Netherlands.

 

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Patient representatives

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

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

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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