Phenotypic characterization and familial risk in hyperplastic polyposis syndrome
نویسندگان
چکیده
منابع مشابه
Phenotypic characterization and familial risk in hyperplastic polyposis syndrome.
BACKGROUND. Hyperplastic polyposis syndrome (HPS) is a rare condition characterized by numerous hyperplastic polyps (HP) with a pancolonic distribution. Genetic and environmental factors, including smoking, may be responsible for phenotypic differences. OBJECTIVE. To characterize HPS patients' phenotype and to determine HPS risk and colorectal cancer (CRC) risk in the first-degree relatives (FD...
متن کاملHyperplastic polyposis syndrome: endoscopic imaging, phenotypic charcteristics and molecular pathways
Phenotypic characteristics Hyperplastic polyposis syndrome (HPS) is a heterogeneous condition involving colorectal serrated polyps and is associated with an increased colorectal cancer (CRC) risk. We evaluated the clinicopathological features of HPS patients and their first-degree relatives. Previously published case series report CRC at clinical presentation in up to 50% of HPS patients. We an...
متن کاملHyperplastic polyposis syndrome: a call for broader diagnostic criteria
Background Hyperplastic Polyposis Syndrome (HPS) is a rare disease characterized by multiple or large hyperplastic polyps and carries an approximately 40% lifetime colorectal cancer risk. Although a genetic basis has not been established, HPS is believed to be a heritable syndrome and is diagnosed by clinical criteria as set forth by the World Health Organization (WHO). Based on clinical experi...
متن کاملHyperplastic Polyposis Syndrome Identified with a BRAF Mutation
Hyperplastic polyposis syndrome (HPS) is a rare condition characterized by the presence of numerous hyperplastic polyps (HPs) in the colon and rectum. Patients with HPS have an increased risk of colorectal cancer. This link is associated with gene mutations, especially B type Raf kinase (BRAF). However, a case of HPS associated with gene mutations has seldom been reported in Korea. Here, we des...
متن کاملClassification and Risk Assessment of Individuals with Familial Polyposis, Gardner's Syndrome, and Familial Non-Polyposis Colon Cancer from [3H]Thymidine Labeling Patterns in Colonie Epithelial Cells1
A probabilistic analysis has been developed to assist the binary classification and risk assessment of members of familial colon cancer kindreds. The analysis is based on the microautoradiographic observation of [3H]thymidine-labeled epithelial cells in colonie mucosa of the kindred members. From biopsies of colonie mucosa which are labeled with [3H]thymidine in vitro, the degree of similarity ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Scandinavian Journal of Gastroenterology
سال: 2013
ISSN: 0036-5521,1502-7708
DOI: 10.3109/00365521.2013.830329