Source:http://linkedlifedata.com/resource/pubmed/id/15304099
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2004-8-12
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| pubmed:abstractText |
Phenotypic characteristics of members of a melanoma prone kindred with a V126D CDKN2A gene mutation were monitored over approximately 15 y. Thirty-eight previously studied subjects were recruited. Participants underwent a complete skin examination by the same dermatologist who examined them initially. The size and location of all nevi were recorded on a body map diagram. Total nevus number (TNN) and total nevus density (TND) were determined. CDKN2A sequencing verified 13 mutation carriers and 16 non-carriers. Nine participants were spouse controls without a history of melanoma and did not carry a CDKN2A mutation. Mutation carriers demonstrated a greater mean TNN and TND at initial and follow-up examinations compared with non-carriers and continued to develop nevi rather than show nevus regression seen in non-carriers and spouse controls. Non-carriers showed an intermediate nevus phenotype between mutation carriers and spouse controls. Four of the 13 mutation carriers and one non-carrier have developed invasive melanoma. Over a 15-y interval, TNN and TND were increased in mutation carriers compared with non-carriers and spouse controls. Continued accumulation of nevi in mutation carriers supports a nevogenic role for this CDKN2A mutation. An intermediate nevus phenotype in non-carrier family members suggests the presence of additional modifier genes.
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| pubmed:grant | |
| pubmed:commentsCorrections | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Sep
|
| pubmed:issn |
0022-202X
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| pubmed:author |
pubmed-author:BoucherKenneth MKM,
pubmed-author:Cannon-AlbrightLisa ALA,
pubmed-author:EricksonJennicaJ,
pubmed-author:FlorellScott RSR,
pubmed-author:HarrisRonald MRM,
pubmed-author:HartMarybethM,
pubmed-author:LeachmanSancy ASA,
pubmed-author:MeyerLaurence JLJ,
pubmed-author:PershingLynn KLK,
pubmed-author:Porter-GillPatricia APA,
pubmed-author:SamlowskiWolfram EWE,
pubmed-author:ZoneJohn JJJ
|
| pubmed:issnType |
Print
|
| pubmed:volume |
123
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
576-82
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| pubmed:dateRevised |
2007-11-14
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| pubmed:meshHeading |
pubmed-meshheading:15304099-Adolescent,
pubmed-meshheading:15304099-Adult,
pubmed-meshheading:15304099-Child,
pubmed-meshheading:15304099-Cyclin-Dependent Kinase Inhibitor p16,
pubmed-meshheading:15304099-Environment,
pubmed-meshheading:15304099-Family Health,
pubmed-meshheading:15304099-Female,
pubmed-meshheading:15304099-Follow-Up Studies,
pubmed-meshheading:15304099-Heterozygote,
pubmed-meshheading:15304099-Humans,
pubmed-meshheading:15304099-Longitudinal Studies,
pubmed-meshheading:15304099-Male,
pubmed-meshheading:15304099-Melanoma,
pubmed-meshheading:15304099-Middle Aged,
pubmed-meshheading:15304099-Nevus,
pubmed-meshheading:15304099-Phenotype,
pubmed-meshheading:15304099-Point Mutation,
pubmed-meshheading:15304099-Skin Neoplasms
|
| pubmed:year |
2004
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| pubmed:articleTitle |
Longitudinal assessment of the nevus phenotype in a melanoma kindred.
|
| pubmed:affiliation |
The Melanoma Program, Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Salt Lake City, UT 84112-5550, USA.
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| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|