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.


Lynch syndrome, also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), 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 (FAP, MAP, PPAP, NAP)
  • Hamartomatous and other polyposis syndromes (PJS, JPS, SPS)


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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