An Ancestral Ashkenazi Haplotype at the HMPS/CRAC1 Locus on 15q13–q14 Is Associated with Hereditary Mixed Polyposis Syndrome
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چکیده
منابع مشابه
Hereditary mixed polyposis syndrome--own experience.
Hereditary mixed polyposis syndrome (HMPS) is a rare condition of unknown genetic origin. The paper presents 25-year clinical follow up in a female patient with multiple gastrointestinal tract polyps of varied histology. They most likely served as sites of multiple colorectal cancers development. The clinical course is interesting in terms of diagnostics and therapy. The patient required extend...
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Microsatellite instability implying multiple replication errors (RER+ phenotype) characterizes a proportion of colorectal carcinomas, particularly those from patients with the hereditary non-polyposis colorectal carcinoma syndrome. We studied the incidence of microsatellite instability in more than 500 sporadic tumors representing 6 different types of cancer. Apart from colorectal carcinoma [se...
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Adiponectin is a protein secreted by adipocytes that modulates insulin action. To assess whether variants of this gene contribute to the prevalence of insulin resistance in Caucasians, we genotyped 413 nondiabetic individuals for two single nucleotide polymorphisms (SNPs) at this locus. The two SNPs (45T-->G and 276G-->T) were chosen because of their association with type 2 diabetes in Japanese...
متن کاملHereditary Hamartomatous Gastrointestinal Polyposis Syndrome
Hamartomas represent localized overgrowth of cells in the parts which are normally associated with polyps, ie. mesenhimal, stromal, endodermal and ectodermal elements. Hamartomatous polyposis syndromes carry a significant risk of developing dysplasia, adenomas, gastrointestinal carcinomas, and pancreatic carcinomas. These syndromes may be classified on the basis of whether they represent heredi...
متن کاملClinical and pathological features of hereditary mixed polyposis syndrome: report on a South African family.
BACKGROUND Hereditary mixed polyposis syndrome is characterised by multiple large-bowel polyps of differing histological types including a mixture of atypical juvenile polyps, hyperplastic polyps and adenomas. Affected individuals are thought to have an increased risk of malignancy, possibly via the juvenile polyposis pathway. METHODS A 51-year-old woman (with a history of a colectomy for pol...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2003
ISSN: 0002-9297
DOI: 10.1086/375144