Germline CDKN2A mutations have been described in 25% to 40% of melanoma families from several countries. Sicilian population is genetically different from the people of Europe and Northern Italy because of its historical background, therefore familial melanoma could be due to genes different from high-penetrance CDKN2A gene. Four hundred patients with cutaneous melanoma were observed in a 6-years period at the Plastic Surgery Unit of the University of Palermo. Forty-eight patients have met the criteria of the Italian Society of Human Genetics (SIGU) for the diagnosis of familial melanoma and were screened for CDKN2A and CDK4 mutations. Mutation testing revealed that none of the families carried mutations in CDK4 and only one patient harboured the rare CDKN2A p.R87W mutation. Unlike other studies, we have not found high mutation rate of CDKN2A in patients affected by familial melanoma or multiple melanoma. This difference could be attributed to different factors, including the genetic heterogeneity of the Sicilian population. It is likely that, as in the Australian people, the inheritance of familial melanoma in this island of the Mediterranean Sea is due to intermediate/low-penetrance susceptibility genes, which, together with environmental factors (as latitude and sun exposure), could determine the occurrence of melanoma.

Di Lorenzo, S., Fanale, D., Corradino, B., Calo, V., Rinaldi, G., Bazan, V., et al. (2016). Absence of germline CDKN2A mutation in Sicilian Patients with Familial Malignant Melanoma: could it be a population-specific genetic signature?. CANCER BIOLOGY & THERAPY, 17(1), 83-90 [10.1080/15384047.2015.1108494].

Absence of germline CDKN2A mutation in Sicilian Patients with Familial Malignant Melanoma: could it be a population-specific genetic signature?

DI LORENZO, Sara;FANALE, Daniele;CORRADINO, Bartolo;CALO', Valentina;RINALDI, Gaetana;BAZAN, Viviana;Giordano, Antonino;CORDOVA, Adriana;RUSSO, Antonio
2016

Abstract

Germline CDKN2A mutations have been described in 25% to 40% of melanoma families from several countries. Sicilian population is genetically different from the people of Europe and Northern Italy because of its historical background, therefore familial melanoma could be due to genes different from high-penetrance CDKN2A gene. Four hundred patients with cutaneous melanoma were observed in a 6-years period at the Plastic Surgery Unit of the University of Palermo. Forty-eight patients have met the criteria of the Italian Society of Human Genetics (SIGU) for the diagnosis of familial melanoma and were screened for CDKN2A and CDK4 mutations. Mutation testing revealed that none of the families carried mutations in CDK4 and only one patient harboured the rare CDKN2A p.R87W mutation. Unlike other studies, we have not found high mutation rate of CDKN2A in patients affected by familial melanoma or multiple melanoma. This difference could be attributed to different factors, including the genetic heterogeneity of the Sicilian population. It is likely that, as in the Australian people, the inheritance of familial melanoma in this island of the Mediterranean Sea is due to intermediate/low-penetrance susceptibility genes, which, together with environmental factors (as latitude and sun exposure), could determine the occurrence of melanoma.
Settore MED/19 - Chirurgia Plastica
Settore MED/06 - Oncologia Medica
https://www.tandfonline.com/doi/full/10.1080/15384047.2015.1108494
http://dx.doi.org/10.1080/15384047.2015.1108494
Di Lorenzo, S., Fanale, D., Corradino, B., Calo, V., Rinaldi, G., Bazan, V., et al. (2016). Absence of germline CDKN2A mutation in Sicilian Patients with Familial Malignant Melanoma: could it be a population-specific genetic signature?. CANCER BIOLOGY & THERAPY, 17(1), 83-90 [10.1080/15384047.2015.1108494].
File in questo prodotto:
File Dimensione Formato  
Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma Could it be a population specific genetic signature.pdf

non disponibili

Descrizione: Il pdf dell'articolo è liberamente consultabile e scaricabile ad accesso aperto sul sito dell'editore: https://www.tandfonline.com/doi/full/10.1080/15384047.2015.1108494
Tipologia: Versione Editoriale
Dimensione 1.16 MB
Formato Adobe PDF
1.16 MB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10447/159351
Citazioni
  • ???jsp.display-item.citation.pmc??? 7
  • Scopus 13
  • ???jsp.display-item.citation.isi??? 13
social impact