منابع مشابه
Genetic Testing for Lynch Syndrome and Inherited Intestinal Polyposis Syndromes
When Policy Topic is covered Genetic testing for APC gene mutations may be considered medically necessary in the following patients: At-risk relatives (see Considerations) of patients with FAP and/or a known APC mutation. Patients with a differential diagnosis of attenuated FAP vs. MYH-associated polyposis vs. Lynch syndrome. Whether testing begins with APC mutations or screening for MMR mu...
متن کاملHamartomatous Polyposis Syndromes: Management and Surveillance Strategies
Introduction: Hamartomatous Polyposis Syndromes (HPS) are a rare group of dominant autosomal inheritance, which is characterized by the development of hamartomatous polyps in the gastrointestinal tract. This syndrome included Juvenile Polyposis syndrome (JPS), Peutz-Jeghers syndrome (PJS), and PTEN Hamartoma Tumour Syndrome (PHTS). PTEN Hamartoma Tumour Syndrome (PHTS) itself includes Cowden ...
متن کاملThe genetic basis of colonic adenomatous polyposis syndromes
Colorectal cancer (CRC) is one of the most common forms of cancer worldwide and familial adenomatous polyposis (FAP) accounts for approximately 1% of all CRCs. Adenomatous polyposis syndromes can be divided into; familial adenomatous polyposis (FAP) - classic FAP and attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), NTHL1-associated polyposis (NAP) and polymera...
متن کاملHamartomatous polyposis syndromes
Hamartomas are tumour-like malformations, consisting of disorganized normal tissues, typical of the site of tumour manifestation. Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers' syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and PTEN hamartoma tumour syndrome (PHTS). All the aforementioned syndromes are inherited in an...
متن کاملGenetic testing for polyposis: practical and ethical aspects.
The three autosomal dominant inherited polyposis syndromes, familial adenomatous polyposis, juvenile polyposis, and Peutz-Jeghers polyposis predispose to colorectal cancer as does hereditary non-polyposis colorectal cancer syndrome. Uncovering the genetic background of these four cancer traits provides the possibility for genetic testing of the family members of an affected patient. Before test...
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ژورنال
عنوان ژورنال: Clinics in Colon and Rectal Surgery
سال: 2016
ISSN: 1531-0043,1530-9681
DOI: 10.1055/s-0036-1584087