Unknown

Dataset Information

0

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.

ABSTRACT: Hereditary polyposis syndromes are characterized by a large number and/or histopathologically specific polyps in the gastrointestinal tract and a high risk of both colorectal cancer and extracolonic cancer at an early age. While the genes responsible for some of the syndromes, eg, APC in familial adenomatous polyposis and STK11 in Peutz-Jeghers syndrome, have been known for decades, novel genetic causes have recently been detected that have shed light on the broader clinical spectrum of syndromes. Genetic diagnoses are important because they can facilitate a personalized surveillance program. Furthermore, at-risk members of the patient's family can be tested and enrolled in surveillance as needed. In some cases, prenatal diagnostics should be offered. In this paper, we describe the development in germline genetics of the hereditary polyposis syndromes over the last 10-12 years, their clinical characteristics, as well as how to implement genetic analyses in the diagnostic pipeline.

SUBMITTER: Jelsig AM 

PROVIDER: S-EPMC8637176 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.

Jelsig Anne Marie AM   Byrjalsen Anna A   Busk Madsen Majbritt M   Kuhlmann Tine Plato TP   van Overeem Hansen Thomas T   Wadt Karin A W KAW   Karstensen John Gásdal JG  

The application of clinical genetics 20211127

Hereditary polyposis syndromes are characterized by a large number and/or histopathologically specific polyps in the gastrointestinal tract and a high risk of both colorectal cancer and extracolonic cancer at an early age. While the genes responsible for some of the syndromes, eg, <i>APC</i> in familial adenomatous polyposis and <i>STK11</i> in Peutz-Jeghers syndrome, have been known for decades, novel genetic causes have recently been detected that have shed light on the broader clinical spectr  ...[more]

Similar Datasets

Unknown Current status of familial gastrointestinal polyposis syndromes.
| S-EPMC4644857 | biostudies-literature
Unknown Gastrointestinal polyposis syndromes for the general gastroenterologist.
| S-EPMC5369703 | biostudies-other
Unknown Updates in chemoprevention research for hereditary gastrointestinal and polyposis syndromes.
| S-EPMC8240460 | biostudies-literature
Unknown The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes.
| S-EPMC2847323 | biostudies-literature
Unknown The genetic basis of colonic adenomatous polyposis syndromes.
| S-EPMC5353802 | biostudies-literature
Unknown Hamartomatous polyposis syndromes.
| S-EPMC3680194 | biostudies-literature
Unknown Familial Adenomatous Polyposis (FAP) and Other Polyposis Syndromes.
| S-EPMC2840009 | biostudies-other
Unknown Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis.
| S-EPMC6382451 | biostudies-literature
Unknown Clinical Assessment and Genetic Testing for Hereditary Polyposis Syndromes in an Italian Cohort of Patients with Colorectal Polyps.
| S-EPMC11544946 | biostudies-literature
Unknown Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.
| S-EPMC4032094 | biostudies-literature