Peutz-Jeghers families unlinked toSTK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma
نویسندگان
چکیده
منابع مشابه
Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma.
INTRODUCTION Germline mutations of the STK11/LKB1 tumour suppressor gene (19p13.3) are responsible for Peutz-Jeghers syndrome (PJS), a rare genetic disorder, which is dominantly inherited. In addition to the typical hamartomatous gastrointestinal polyps and perioral pigmented lesions, PJS is also associated with the development of tumours in various sites. No specific follow up has yet been eva...
متن کاملMutations in the STK11 gene in Czech Peutz-Jeghers families
Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary disease characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis. The germline mutations in the serine/threonine kinase 11 (STK11) gene have been shown to be associated with the disease. Individuals with PJS are at increased risk for various neoplasms. Molecular analysis could be helpful...
متن کاملLarge deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families.
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by mucocutaneous melanocytic macules, gastrointestinal hamartomatous polyposis and an increased risk of various neoplasms. Germline mutations in the serine/threonine kinase 11 (STK11) gene have been identified as a cause for PJS. The aim of this study was to characterize the genotype of Chilean PJS patients. Mutation s...
متن کاملPeutz-Jeghers syndrome and metastasising colonic adenocarcinoma.
A case of metastasising colonic carcinoma associated with Peutz-Jeghers syndrome in a 39 year old man is described. The caecal adenocarcinoma had metastasised widely to regional lymph nodes and was associated with several other colonic Peutz-Jeghers polyps, showing no evidence of dysplasia or malignancy. It was not possible to determine whether the carcinoma had arisen from a Peutz-Jeghers poly...
متن کاملPeutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.
A locus for Peutz-Jeghers syndrome (PJS) was recently mapped to chromosome 19p13.3. Each of 12 families studied was compatible with linkage to the marker D19S886. We have analysed 20 further families and found that the majority of these are consistent with a PJS gene on 19p13.3. Three families were, however, unlinked to 19p13.3 and none of the available PJS polyps from these families showed all...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2001
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmg.38.6.356