Source:http://linkedlifedata.com/resource/pubmed/id/12089860
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
7
|
| pubmed:dateCreated |
2002-7-1
|
| pubmed:abstractText |
Multiple endocrine neoplasia type 1 (MEN1) is a rare cancer predisposition syndrome. It results from the autosomal dominant inheritance of inactivating germ-line mutations of the MEN1 tumor suppressor gene. Mutation carriers are prone to develop tumors, preferentially, of the parathyroid and anterior pituitary glands as well as the enteropancreatic endocrine tissues. Because such tumors also occur without the MEN1 context, we have set up a molecular genetic screening program in Austria to discriminate between heritable and non-heritable tumor forms. Following the recognition of a MEN1-specific germ-line mutation in a tumor patient, we extend the screening to all first-degree relatives. To date, we have studied 42 individuals by sequencing the coding exons 2 to 10 of the MEN1 gene. A germ-line mutation was discovered in four of seven families suspected, clinically, to have MEN1, and in 3 of 22 (13.6%) patients with a presumed sporadic endocrine tumor. The respective mutations were also detected in three first-degree relatives of whom only one 6-year-old boy was asymptomatic at the time of investigation. The possibility to clearly discriminate between genetically predisposed and non-predisposed individuals has a significant impact on the diagnosis and clinical management of both patients and their relatives. Both symptomatic and asymptomatic mutation carriers can be closely monitored, thereby allowing early recognition and treatment of developing tumors. Non-affected relatives, on the other hand, do not require further controls. Finally, this approach also provides the information necessary for reliable genetic counseling.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0043-5325
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
15
|
| pubmed:volume |
114
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
252-7
|
| pubmed:dateRevised |
2009-11-19
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| pubmed:meshHeading |
pubmed-meshheading:12089860-Adolescent,
pubmed-meshheading:12089860-Adult,
pubmed-meshheading:12089860-Aged,
pubmed-meshheading:12089860-Austria,
pubmed-meshheading:12089860-Child,
pubmed-meshheading:12089860-DNA Mutational Analysis,
pubmed-meshheading:12089860-Female,
pubmed-meshheading:12089860-Genetic Predisposition to Disease,
pubmed-meshheading:12089860-Genetic Testing,
pubmed-meshheading:12089860-Germ-Line Mutation,
pubmed-meshheading:12089860-Humans,
pubmed-meshheading:12089860-Male,
pubmed-meshheading:12089860-Middle Aged,
pubmed-meshheading:12089860-Multiple Endocrine Neoplasia Type 1,
pubmed-meshheading:12089860-Neoplasm Proteins,
pubmed-meshheading:12089860-Penetrance,
pubmed-meshheading:12089860-Polymerase Chain Reaction,
pubmed-meshheading:12089860-Proto-Oncogene Proteins,
pubmed-meshheading:12089860-Risk
|
| pubmed:year |
2002
|
| pubmed:articleTitle |
Multiple endocrine neoplasia type 1 (MEN1) in Austria.
|
| pubmed:affiliation |
Children's Cancer Research Institute, St Anna Children's Hospital, Vienna, Austria.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|