Genetics

Folder Genetics

Documents

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

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Free paper - Francisco Lopez-Kostner at ESCP Sorrento 2010

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

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

video Update on Guidelines for FAP (Familial adenomatous polyposis)

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

video Update of New Guidelines: FAP guideline

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

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

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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?

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

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

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

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

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

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

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Oral poster - Ashish Sinha at ESCP Sorrento 2010

video Rationale for a required revised edition of the Spigelman criteria

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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

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

video PMS2 and Lynch syndrome and individual risks redefined

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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

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

video Oligopolyposis, attenuated polyposis and new polyposis syndromes

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

video My Most Challenging Case: Inherited polyposis New

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Education session - Ash Sinha (UK) & Kirsten De Burlet (UK) at ESCP Thessaloniki 2024

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

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

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

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Oral poster - Min Hoe Chew at ESCP Vienna 2012

video Lynch syndrome

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

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

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Symposium - Graham Williams at ESCP Barcelona 2014

video Intestinal polyposis: Familiar polyposis coli and related syndromes

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Symposium - Yann Parc at ESCP Barcelona 2014

video Immunotherapy for sporadic and hereditary colorectal cancer

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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

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

video Hereditary colorectal cancer: the role of epigenetic factors

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Symposium - John Burn (UK) at ESCP Nice 2018

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

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Symposium - Matthias Kloor (Germany) at ESCP Nice 2018

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

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Symposium - Toni Seppälä (Finland) at ESCP Nice 2018

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

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

video Global management of Lynch syndrome

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

video Genetics of IBD

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Keynote lecture - Jean-Pierre Hugot at ESCP Belgrade 2013

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

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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?

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

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