CDKN2A and MC1R analysis in amelanotic and pigmented melanoma (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• CDKN2A and MC1R analysis in amelanotic and pigmented melanoma (Articolo in rivista) (literal)

Anno

• 2009-01-01T00:00:00+01:00 (literal)

Alternative label

• Ghiorzo P, Pastorino L, Pizzichetta MA, Bono R, Queirolo P, Talamini R, Annessi G, Bruno W, Nasti S, Gargiulo S, Battistuzzi L, Sini MC, Palmieri G, Bianchi Scarrà G. (2009)
  CDKN2A and MC1R analysis in amelanotic and pigmented melanoma
  in Melanoma research
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Ghiorzo P, Pastorino L, Pizzichetta MA, Bono R, Queirolo P, Talamini R, Annessi G, Bruno W, Nasti S, Gargiulo S, Battistuzzi L, Sini MC, Palmieri G, Bianchi Scarrà G. (literal)

Pagina inizio

• 142 (literal)

Pagina fine

• 145 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 19 (literal)

Rivista

• Melanoma research (Rivista)

Note

• PubMed (literal)
• Scopus (literal)
• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• 1Dipartimento di Oncologia, Biologia e Genetica, Università di Genova; 2Centro di Riferimento Oncologico, Aviano; 3Istituto Dermopatico dell’Immacolata, Roma; 4Istituto Nazionale per la Ricerca sul Cancro, Genova; 5Istituto di Chimica Biomolecolare, CNR, Sassari (literal)

Titolo

• CDKN2A and MC1R analysis in amelanotic and pigmented melanoma (literal)

Abstract

• Amelanotic melanoma (AM) is a rare subtype of melanoma with little or no clinically visible pigment; it is 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. (literal)

Prodotto di

• Biomarcatori e bioterapie nei tumori umani (PM.P06.017.002) (Modulo)
• Istituto di chimica biomolecolare (ICB) (Istituto)
• Molecular Design (Dipartimento)

Autore CNR

• GIUSEPPE PALMIERI (Persona)
• MARIA CRISTINA SINI (Persona)

Incoming links:

Prodotto

• Molecular Design (Dipartimento)
• Istituto di chimica biomolecolare (ICB) (Istituto)
• Biomarcatori e bioterapie nei tumori umani (PM.P06.017.002) (Modulo)

Autore CNR di

• GIUSEPPE PALMIERI (Persona)
• MARIA CRISTINA SINI (Persona)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Melanoma research (Rivista)