STRAD in Peutz-Jeghers syndrome and sporadic cancers
نویسندگان
چکیده
منابع مشابه
STRAD in Peutz-Jeghers syndrome and sporadic cancers.
BACKGROUND/AIMS LKB1 is a tumour suppressor gene that is associated with Peutz-Jeghers syndrome (PJS), a rare autosomal dominant cancer predisposition syndrome. However, germline mutations in the LKB1 gene are found in only about 60% of patients with PJS, suggesting the existence of a second PJS gene. The STRAD gene, encoding an LKB1 interacting protein that activates LKB1, which subsequently l...
متن کاملSTK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer.
A potential tumor suppressor gene, STK11 , encoding a serine threonine kinase, has recently been identified on chromosome 19p13. Germ-line mutations of this gene have been found in patients with Peutz-Jeghers syndrome (PJS). To further investigate the relevance of STK11 mutations in PJS, we analyzed its coding sequence in nine patients and identified two deletions and three missense mutations. ...
متن کاملFrequency and spectrum of cancers in the Peutz-Jeghers syndrome.
BACKGROUND Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/LKB1 (serine/threonine kinase) mutation status are limited. EXPERIMENTAL DESIGN We analyzed the incidence of cancer in 419 individuals with Peutz-Jeghers syndrome, and 297 had documented STK11/LKB1 mutations. R...
متن کاملPeutz-Jeghers syndrome
Introduction Peutz-Jeghers syndrome (PJS) is characterized by: (i) autosomal dominant inheritance; (ii) cutaneous pigmentation; (iii) gastro-intestinal polyposis. In all, more than 300 cases have been described with a world-wide distribution and no racial predilection. In 1921 Peutz described 7 cases of multiple intestinal polyps associated with melanin spots on the lips, buccal mucosa and digi...
متن کامل[Peutz-Jeghers syndrome].
Peutz-Jeghers syndrome is an inherited disorder which usually debuts during childhood. It is characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract. Numerous reports indicate a high incidence of gastrointestinal and extraintestinal cancer in these patients, their appearance at a young age, as well as its association with ovarian and testicular tumors....
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ژورنال
عنوان ژورنال: Journal of Clinical Pathology
سال: 2005
ISSN: 0021-9746
DOI: 10.1136/jcp.2005.026013