Source:http://linkedlifedata.com/resource/pubmed/id/20935450
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
9
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pubmed:dateCreated |
2010-11-24
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pubmed:abstractText |
Familial adenomatous polyposis (FAP) is an autosomal inherited syndrome characterized by hundreds to thousands colorectal adenomatous polyps with oncological transformation lifetime risk of 100%. FAP is mainly associated with mutations in APC (autosomal dominant inheritance) or MUTYH (autosomal recessive inheritance) genes. Affected individuals are at increased risk of developing extra-intestinal tumors. Lifetime risk of developing thyroid carcinoma has been described in previous reports of about 2-12%, mainly in females, and the mean age is below 30 yr. About 95% of cancers are papillary thyroid carcinomas (PTC), mostly multifocal. The aim of this study was to evaluate the frequency of PTC among our series of FAP patients and to assess the type of gene mutation associated with the disease.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1720-8386
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
33
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
603-6
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pubmed:meshHeading |
pubmed-meshheading:20935450-Adenomatous Polyposis Coli,
pubmed-meshheading:20935450-Adolescent,
pubmed-meshheading:20935450-Adult,
pubmed-meshheading:20935450-Carcinoma, Papillary,
pubmed-meshheading:20935450-Female,
pubmed-meshheading:20935450-Follow-Up Studies,
pubmed-meshheading:20935450-Genes, APC,
pubmed-meshheading:20935450-Genetic Association Studies,
pubmed-meshheading:20935450-Germ-Line Mutation,
pubmed-meshheading:20935450-Humans,
pubmed-meshheading:20935450-Male,
pubmed-meshheading:20935450-Middle Aged,
pubmed-meshheading:20935450-Mutation,
pubmed-meshheading:20935450-Polymorphism, Single Nucleotide,
pubmed-meshheading:20935450-Retrospective Studies,
pubmed-meshheading:20935450-Thyroid Neoplasms,
pubmed-meshheading:20935450-Young Adult
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pubmed:year |
2010
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pubmed:articleTitle |
Gene variants associated to malignant thyroid disease in familial adenomatous polyposis: a novel APC germline mutation.
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pubmed:affiliation |
Clinical Pathology Unit, Regina Elena National Cancer Institute-IRCCS, Rome, Italy.
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pubmed:publicationType |
Journal Article
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