Genetics

ESCP/EHTG joint symposium - Julio Mayol (Spain) at ESCP Vilnius 2023

ESCP/EHTG joint symposium - Alessandro Manucci (Italy) at ESCP Vilnius 2023

ESCP/EHTG joint symposium - Matthew Kalady (USA) at ESCP Vilnius 2023

Consultants corner - Rokas Stulpinas (Lithuania) at ESCP Vilnius 2023

Clara Téllez (Spain) at ESCP Vilnius 2023

John Conneely (Ireland) at ESCP Vilnius 2023

Tenna Vesterman Henriksen (Denmark) at ESCP Vilnius 2023

One of 12 best abstracts - Toritseju Sillo (UK) at ESCP Dublin 2022

International Fellow Free Papers - Chul Seung Lee (Korea) at ESCP Dublin 2022

Guideline session - Gloria Zaffaroni (Italy) at ESCP Dublin 2022

Scientific session - Miguel Pera (Spain) at ESCP Dublin 2022

Scientific session - Gabriela Möslein (Germany) at ESCP Dublin 2022

Scientific session - Gregor Norcic (Slovenia) at ESCP Dublin 2022

Guidelines updates - Toni Seppälä (Finland) at ESCP Barcelona 2021

ESCP/EHTG Symposium - Anna Lepistö (Finland) at ESCP Barcelona 2021

ESCP/EHTG Symposium - Gloria Zaffaroni (Italy) at ESCP Barcelona 2021

Symposium - Toni Seppälä (Finland) at ESCP Virtually Vilnius 2020

Symposium - Nick West (UK) at ESCP Virtually Vilnius 2020

ESCP/EHTG Symposium - Julian Sampson (UK) at ESCP Vienna 2019

ESCP/EHTG Symposium - Sanne ten Broeke (The Netherlands) at ESCP Vienna 2019

ESCP/EHTG Symposium - Julian Sampson (UK) at ESCP Vienna 2019

ESCP/EHTG Symposium - Magnus von Knebel Doeberitz (Germany) at ESCP Vienna 2019

Educational session - Gabriela Möslein (Germany) at ESCP Vienna 2019

Symposium - Toni Seppälä (Finland) at ESCP Nice 2018

Symposium - John Burn (UK) at ESCP Nice 2018

Symposium - Matthias Kloor (Germany) at ESCP Nice 2018

ESCP Guidelines Update - Gabriela Möslein (Germany) at ESCP Berlin 2017

ESCP/EAES Symposium - Gabriela Möslein (Germany) at ESCP Berlin 2017

ESCP/EAES Symposium - Francesco Bianco (Italy) at ESCP Berlin 2017

The two main inherited colorectal cancer syndromes are familial adenomatous polyposis (FAP) and Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]), which account for less than 1 % and 3 % of colorectal cancers, respectively. FAP is characterized by the occurrence of multiple colorectal adenomas that often start to develop during the teenage years. A germ-line mutation in the APC gene located on chromosome 5 is found in about 85 % of patients with this phenotype. Without prophylactic surgery, nearly all will develop colorectal cancer. Surgery, including restorative proctocolectomy or total colectomy with ileorectal anastomosis, has greatly reduced the death rate from colorectal cancer, and now prognosis is dependent on desmoid tumors and duodenal polyposis.

HNPCC syndrome is more complex than FAP because more genes are involved, penetrance is less complete, and expression varies more. The recommendation is to try to determine the microsatellite instability (MSI) phenotype to test patients showing an MSI. Screening guidelines are well defined. Surgical management of HNPCC using segmental versus total colectomy is still debated.

A third syndrome, the MYH-associated polyposis syndrome, related to germ-line biallelic mutation of the human MUTYH gene, is an autosomal-recessive colon cancer syndrome. Other syndromes such as Peutz Jeghers syndrome, juvenile polyposis, and hyperplastic polyposis are seen less frequently.