Genetics

Folder Genetics

Documents

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

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

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 Clinical importance of somatic mutations and subgroups in colorectal cancer

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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

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Educational session - Paul Goldberg at ESCP Milan 2016

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

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Symposium - Jérémie Lefevre at ESCP Dublin 2015

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

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Symposium - Gabriella Möslein at ESCP Dublin 2015

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

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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

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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?

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

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 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

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

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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

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

video Genetics of IBD

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Keynote lecture - Jean-Pierre Hugot at ESCP Belgrade 2013

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 Treatment of familial adenomatous polyposis based on results of genetic studies

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Oral poster - Yuri Chubarov at ESCP Vienna 2012

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

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Oral poster - Ashish Sinha at ESCP Sorrento 2010

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