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CDKN2A and MC1R analysis in amelanotic and pigmented melanoma.
Melanoma Res 2009; 19(3):142-5MR

Abstract

Amelanotic melanoma (AM) is a rare subtype of melanoma with little or no clinically visible pigment; it is more difficult to diagnose than pigmented melanoma (PM), and has a worse prognosis. In the attempt to find a genetic explanation for the distinction between AM and PM, we conducted a case-case study, matching AM and PM patients, and testing them for germline mutations in high- (p16INK4A, p14ARF, CDK4) and low-penetrance (MC1R) melanoma susceptibility genes. Similar CDKN2A mutations were found in both sets of melanomas. A p14ARF splice germline mutation was detected for the first time in an Italian family with AM. This rare mutation, which has been described only once previously, may be involved in predisposition to the amelanotic phenotype in combination with germline MC1R variants and coordinate somatic expression of pigmentation genes and their regulators.

Authors+Show Affiliations

Dipartimento di Oncologia, Biologia e Genetica, Università di Genova, Genova, Italy. paola.ghiorzo@unige.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19339902

Citation

Ghiorzo, Paola, et al. "CDKN2A and MC1R Analysis in Amelanotic and Pigmented Melanoma." Melanoma Research, vol. 19, no. 3, 2009, pp. 142-5.
Ghiorzo P, Pastorino L, Pizzichetta MA, et al. CDKN2A and MC1R analysis in amelanotic and pigmented melanoma. Melanoma Res. 2009;19(3):142-5.
Ghiorzo, P., Pastorino, L., Pizzichetta, M. A., Bono, R., Queirolo, P., Talamini, R., ... Scarrà, G. B. (2009). CDKN2A and MC1R analysis in amelanotic and pigmented melanoma. Melanoma Research, 19(3), pp. 142-5. doi:10.1097/CMR.0b013e32832a1e18.
Ghiorzo P, et al. CDKN2A and MC1R Analysis in Amelanotic and Pigmented Melanoma. Melanoma Res. 2009;19(3):142-5. PubMed PMID: 19339902.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - CDKN2A and MC1R analysis in amelanotic and pigmented melanoma. AU - Ghiorzo,Paola, AU - Pastorino,Lorenza, AU - Pizzichetta,Maria A, AU - Bono,Riccardo, AU - Queirolo,Paola, AU - Talamini,Renato, AU - Annessi,Giorgio, AU - Bruno,William, AU - Nasti,Sabina, AU - Gargiulo,Sara, AU - Battistuzzi,Linda, AU - Sini,Maria C, AU - Palmieri,Giuseppe, AU - Scarrà,Giovanna Bianchi, AU - ,, PY - 2009/4/3/entrez PY - 2009/4/3/pubmed PY - 2009/8/1/medline SP - 142 EP - 5 JF - Melanoma research JO - Melanoma Res. VL - 19 IS - 3 N2 - Amelanotic melanoma (AM) is a rare subtype of melanoma with little or no clinically visible pigment; it is more difficult to diagnose than pigmented melanoma (PM), and has a worse prognosis. In the attempt to find a genetic explanation for the distinction between AM and PM, we conducted a case-case study, matching AM and PM patients, and testing them for germline mutations in high- (p16INK4A, p14ARF, CDK4) and low-penetrance (MC1R) melanoma susceptibility genes. Similar CDKN2A mutations were found in both sets of melanomas. A p14ARF splice germline mutation was detected for the first time in an Italian family with AM. This rare mutation, which has been described only once previously, may be involved in predisposition to the amelanotic phenotype in combination with germline MC1R variants and coordinate somatic expression of pigmentation genes and their regulators. SN - 1473-5636 UR - https://www.unboundmedicine.com/medline/citation/19339902/CDKN2A_and_MC1R_analysis_in_amelanotic_and_pigmented_melanoma_ L2 - http://Insights.ovid.com/pubmed?pmid=19339902 DB - PRIME DP - Unbound Medicine ER -