Genetics

Folder Genetics

Documents

video Gene and gender guidelines for Lynch Syndrome (GGGLS) - Key Message and a case

By In Genetics

Toni Seppälä

video Update on Guidelines for PJS (Peutz-Jeghers-Syndrome)

By In Genetics

Anna Lepistö

video Update on Guidelines for FAP (Familial adenomatous polyposis)

By In Genetics

Gloria Zaffaroni

video Colorectal Cancer: Cancer risk and surgical considerations in Lynch Syndrome

By In Genetics

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

video Colorectal Cancer: Microsatellite instability for colorectal surgeons

By In Genetics

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

video Oligopolyposis, attenuated polyposis and new polyposis syndromes

By In Genetics

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

video PMS2 and Lynch syndrome and individual risks redefined

By In Genetics

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

video Global management of Lynch syndrome

By In Genetics

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

video Immunotherapy for sporadic and hereditary colorectal cancer

By In Genetics

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

video Core Subject Update: Genetics in colorectal cancer

By In Genetics

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

video Hereditary colorectal cancer: clinical aspects, from phenotype to genotype and back

By In Genetics

Symposium - Toni Seppälä (Finland) at ESCP Nice 2018

video Hereditary colorectal cancer: the role of epigenetic factors

By In Genetics

Symposium - John Burn (UK) at ESCP Nice 2018

video Hereditary colorectal cancer: MSI, HNPCC, Lynch syndrome and immunotherapy including vaccine: an update

By In Genetics

Symposium - Matthias Kloor (Germany) at ESCP Nice 2018

video Lynch syndrome

By In Genetics

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

video Screening and Surveillance: Gene and gender recommendations for Lynch syndrome (HNPCC)

By In Genetics

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

video Screening and Surveillance: Screening strategies of colorectal cancer - an update

By In Genetics

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

document Genetics (Chapter 24, European Manual of Medicine: Coloproctology Second Edition)

By In Genetics

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.

video Clinical importance of somatic mutations and subgroups in colorectal cancer

By In Genetics

Keynote Lecture - Jan Paul Medema at ESCP Milan 2016

video Activities in Coloproctology Around the Globe: Daisies in the desert: Lynch syndrome management in a resource constrained environment

By In Genetics

Educational session - Paul Goldberg at ESCP Milan 2016

video Cancer family syndromes: what the surgeon needs to know: Genes in surgical practice

By In Genetics

Symposium - Jérémie Lefevre at ESCP Dublin 2015

video Cancer family syndromes: what the surgeon needs to know: How to manage the family

By In Genetics

Symposium - Gabriella Möslein at ESCP Dublin 2015

video Cancer family syndromes: what the surgeon needs to know: Surgery - when and how?

By In Genetics

Symposium - Des Winter at ESCP Dublin 2015

video Hirschsprung disease: impact on quality of life and social condition at adult age - a comparison with anorectal malformation

By In Genetics

Oral Poster (Functional) - Farouk Drissi at ESCP Dublin 2015

video Should protective ileostomies be avoided at the time of proctocolectomy in FAP patients whenever reasonably safe?

By In Genetics

Oral Poster (Neoplasia) - Gabriela Möslein at ESCP Dublin 2015

video Intestinal polyposis: The maglignant rectal polyp: big operations, small operation or no operation?

By In Genetics

Symposium - Graham Williams at ESCP Barcelona 2014

video Intestinal polyposis: Familiar polyposis coli and related syndromes

By In Genetics

Symposium - Yann Parc at ESCP Barcelona 2014

video Oncological results of extralevator abdomnioperineal excision (ELAPE) in a Swedish, national cohort

By In Genetics

Oral Poster (Neoplasia) - Mattias Prytz at ESCP Barcelona 2014

pdf DESI-MSI profiling of the colorectal cancer microenvironment reveals subtle modifications in lipid metabolism that correlate with pathological phenotype

By In Genetics

Short Paper - Reza Mirnezami (UK) at Tripartite Colorectal Meeting 2014

pdf Mismatch repair status, host local and systemic inflammatory responses and survival in patients with primary operable colorectal cancer

By In Genetics

Short Paper - James Park (UK) at Tripartite Colorectal Meeting 2014

video Genetics of IBD

By In Genetics

Keynote lecture - Jean-Pierre Hugot at ESCP Belgrade 2013

ESCP Affiliates