| PMID |
|
|
| TITLE |
|
| Epidermal growth factor gene (EGF) polymorphism and risk of melanocytic neoplasia. |
|
| ABSTRACT |
|
|
|
| A common single nucleotide polymorphism (SNP) in the 5' untranslated region (5'UTR) of the epidermal growth factor (EGF) gene modulates the level of transcription of this gene and hence is associated with serum levels of EGF. This variant may be associated with melanoma risk, but conflicting findings have been reported. An Australian melanoma case-control sample was typed for the EGF+61A>G transversion (rs4444903). The sample comprised 753 melanoma cases from 738 families stratified by family history of melanoma and 2387 controls from 645 unselected twin families. Ancestry of the cases and controls was recorded, and the twins had undergone skin examination to assess total body nevus count, degree of freckling and pigmentation phenotype. SNP genotyping was carried out via primer extension followed by matrix-assisted laser desorption time of flight (MALDI-TOF) mass spectroscopy. The EGF+61 SNP was not found to be significantly associated with melanoma status or with development of nevi or freckles. Among melanoma cases, however, G homozygotes had thicker tumors (p=0.05), in keeping with two previous studies. The EGF polymorphism does not appear to predispose to melanoma or nevus development, but its significant association with tumor thickness implies that it may be a useful marker of prognosis. |
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| DATE PUBLISHED |
|
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| HISTORY |
|
| PUBSTATUS |
PUBSTATUSDATE |
| pubmed |
2004/09/18 05:00 |
| medline |
2004/11/09 09:00 |
| entrez |
2004/09/18 05:00 |
|
| AUTHORS |
|
| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| James MR |
|
James |
Michael R |
MR |
|
Queensland Institute of Medical Research, Brisbane, Australia. |
| Hayward NK |
|
Hayward |
Nicholas K |
NK |
|
|
| Dumenil T |
|
Dumenil |
Troy |
T |
|
|
| Montgomery GW |
|
Montgomery |
Grant W |
GW |
|
|
| Martin NG |
|
Martin |
Nicholas G |
NG |
|
|
| Duffy DL |
|
Duffy |
David L |
DL |
|
|
|
| INVESTIGATORS |
|
|
| JOURNAL |
|
| VOLUME: 123 |
| ISSUE: 4 |
| TITLE: The Journal of investigative dermatology |
| ISOABBREVIATION: J. Invest. Dermatol. |
| YEAR: 2004 |
| MONTH: Oct |
| DAY: |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Print |
| ISSN: 0022-202X |
| ISSNTYPE: Print |
|
| MEDLINE JOURNAL |
|
| MEDLINETA: J Invest Dermatol |
| COUNTRY: United States |
| ISSNLINKING: 0022-202X |
| NLMUNIQUEID: 0426720 |
|
| PUBLICATION TYPE |
|
| PUBLICATIONTYPE TEXT |
| Journal Article |
| Research Support, Non-U.S. Gov't |
| Research Support, U.S. Gov't, P.H.S. |
|
| COMMENTS AND CORRECTIONS |
|
| REFTYPE |
REFSOURCE |
REFPMID |
NOTE |
| CommentIn |
J Invest Dermatol. 2004 Oct;123(4):xx-xxi |
15373802 |
|
|
| GRANTS |
|
| GRANTID |
AGENCY |
COUNTRY |
| CA88363 |
NCI NIH HHS |
United States |
|
| GENERAL NOTE |
|
|
| KEYWORDS |
|
|
| MESH HEADINGS |
|
| DESCRIPTORNAME |
QUALIFIERNAME |
| Case-Control Studies |
|
| Epidermal Growth Factor |
genetics |
| Gene Frequency |
genetics |
| Genetic Predisposition to Disease |
epidemiology |
| Genotype |
epidemiology |
| Humans |
epidemiology |
| Melanoma |
pathology |
| Melanosis |
genetics |
| Nevus |
genetics |
| Polymorphism, Genetic |
genetics |
| Prognosis |
genetics |
| Risk Factors |
genetics |
| Skin Neoplasms |
pathology |
|
| SUPPLEMENTARY MESH |
|
|
| GENE SYMBOLS |
|
|
| CHEMICALS |
|
| REGISTRYNUMBER |
NAMEOFSUBSTANCE |
| 62229-50-9 |
Epidermal Growth Factor |
|
| OTHER ID's |
|
|
