PMID- 15373782 OWN - NLM STAT- MEDLINE DCOM- 20041108 LR - 20071114 IS - 0022-202X (Print) IS - 0022-202X (Linking) VI - 123 IP - 4 DP - 2004 Oct TI - Epidermal growth factor gene (EGF) polymorphism and risk of melanocytic neoplasia. PG - 760-2 AB - 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. FAU - James, Michael R AU - James MR AD - Queensland Institute of Medical Research, Brisbane, Australia. FAU - Hayward, Nicholas K AU - Hayward NK FAU - Dumenil, Troy AU - Dumenil T FAU - Montgomery, Grant W AU - Montgomery GW FAU - Martin, Nicholas G AU - Martin NG FAU - Duffy, David L AU - Duffy DL LA - eng GR - CA88363/CA/NCI NIH HHS/United States PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, P.H.S. PL - United States TA - J Invest Dermatol JT - The Journal of investigative dermatology JID - 0426720 RN - 62229-50-9 (Epidermal Growth Factor) SB - IM CIN - J Invest Dermatol. 2004 Oct;123(4):xx-xxi. PMID: 15373802 MH - Case-Control Studies MH - Epidermal Growth Factor/*genetics MH - Gene Frequency MH - Genetic Predisposition to Disease/epidemiology MH - Genotype MH - Humans MH - Melanoma/epidemiology/*genetics/pathology MH - Melanosis/epidemiology/genetics MH - Nevus/epidemiology/genetics MH - *Polymorphism, Genetic MH - Prognosis MH - Risk Factors MH - Skin Neoplasms/epidemiology/*genetics/pathology EDAT- 2004/09/18 05:00 MHDA- 2004/11/09 09:00 CRDT- 2004/09/18 05:00 PHST- 2004/09/18 05:00 [pubmed] PHST- 2004/11/09 09:00 [medline] PHST- 2004/09/18 05:00 [entrez] AID - S0022-202X(15)30978-7 [pii] AID - 10.1111/j.0022-202X.2004.23305.x [doi] PST - ppublish SO - J Invest Dermatol. 2004 Oct;123(4):760-2. doi: 10.1111/j.0022-202X.2004.23305.x.