Genetics

Folder Genetics

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video Usefulness of immunohistochemistry and microsatellite instability in families with suspected Lynch syndrome

Published on 18 October 2010 By ESCP Secretariat In Genetics

Free paper - Francisco Lopez-Kostner at ESCP Sorrento 2010

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

Published on 25 January 2022 By ESCP Secretariat In Genetics

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

video Update on Guidelines for FAP (Familial adenomatous polyposis)

Published on 25 January 2022 By ESCP Secretariat In Genetics

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

video Update of New Guidelines: FAP guideline

Published on 26 October 2022 By ESCP Secretariat In Genetics

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

video Treatment of familial adenomatous polyposis based on results of genetic studies

Published on 15 October 2012 By ESCP Secretariat In Genetics

Oral poster - Yuri Chubarov at ESCP Vienna 2012

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

Published on 24 November 2015 By ESCP Secretariat In Genetics

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

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

Published on 13 November 2017 By ESCP Secretariat In Genetics

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

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

Published on 13 November 2017 By ESCP Secretariat In Genetics

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

video Risk factors predicting intra-abdominal desmoid occurrence in familial adenomatous polyposis

Published on 18 October 2010 By ESCP Secretariat In Genetics

Oral poster - Ashish Sinha at ESCP Sorrento 2010

video Rationale for a required revised edition of the Spigelman criteria

Published on 23 November 2023 By ESCP Secretariat In Genetics

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

video Prognostic role of postoperative cell free DNA with colorectal cancer based on next-generation sequencing

Published on 02 November 2022 By ESCP Secretariat In Genetics

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

video PMS2 and Lynch syndrome and individual risks redefined

Published on 04 November 2019 By ESCP Secretariat In Genetics

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

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

Published on 12 December 2014 By ESCP Secretariat In Genetics

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

video Oligopolyposis, attenuated polyposis and new polyposis syndromes

Published on 04 November 2019 By ESCP Secretariat In Genetics

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

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

Published on 07 August 2014 By ESCP Secretariat In Genetics

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

video Mismatch repair deficiency screening via immunohistochemistry staining in young Asian colorectal cancers

Published on 15 October 2012 By ESCP Secretariat In Genetics

Oral poster - Min Hoe Chew at ESCP Vienna 2012

video Lynch syndrome

Published on 13 November 2017 By ESCP Secretariat In Genetics

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

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

Published on 12 December 2014 By ESCP Secretariat In Genetics

Symposium - Graham Williams at ESCP Barcelona 2014

video Intestinal polyposis: Familiar polyposis coli and related syndromes

Published on 12 December 2014 By ESCP Secretariat In Genetics

Symposium - Yann Parc at ESCP Barcelona 2014

video Immunotherapy for sporadic and hereditary colorectal cancer

Published on 04 November 2019 By ESCP Secretariat In Genetics

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

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

Published on 25 November 2015 By ESCP Secretariat In Genetics

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

video Hereditary colorectal cancer: the role of epigenetic factors

Published on 19 October 2018 By ESCP Secretariat In Genetics

Symposium - John Burn (UK) at ESCP Nice 2018

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

Published on 19 October 2018 By ESCP Secretariat In Genetics

Symposium - Matthias Kloor (Germany) at ESCP Nice 2018

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

Published on 19 October 2018 By ESCP Secretariat In Genetics

Symposium - Toni Seppälä (Finland) at ESCP Nice 2018

video Gut microbiota expression profiles correlate with differences in the immune response in colorectal cancer

Published on 02 November 2022 By ESCP Secretariat In Genetics

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

video Global management of Lynch syndrome

Published on 04 November 2019 By ESCP Secretariat In Genetics

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

video Genetics of IBD

Published on 04 November 2013 By ESCP Secretariat In Genetics

Keynote lecture - Jean-Pierre Hugot at ESCP Belgrade 2013

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

Published on 18 May 2017 By European Manual of Medicine: Coloproctology 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 Genetic testing and surgical recommendations: where is the problem?

Published on 30 November 2023 By ESCP Secretariat In Genetics

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

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

Published on 26 January 2022 By ESCP Secretariat In Genetics

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

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