Background: Malignant Melanoma (MM) is familial in 5-7% of cases. Germline mutations of the CDKN2 and CDK4 genes are involved in the pathogenesis of hereditary MM, but the high frequency of familial clustering suggests other genes involved. MM seems to cluster with hereditary syndrome such as Hereditary Breast/Ovarian Cancer (HBOC). In this respect, some authors reported that carriers of BRCA 2 germline mutations have a significantly increased risk for MM (RR: 2.58). Aims: We investigate family history of MM patients to define the familial clustering for MM and history for othe tumours. Methods: We retrospectively analysed family of 342 consecutive MM cases referred from 1994 to 2002 to the “Gruppo Melanoma”, Azienda Universitaria Policlinico, University “Federico II” of Naples. We divided the cases into four subsets: 1) multiple MM; 2) MM aggregated with other tumours in the proband; 3) MM with a family history of MM; and 4) MM with a family history of other tumours. We collected the pedigree, after informed consent, in all cases with a family history of MM or other tumours. Results: data analysis showed: multiple MM in 5/342 cases (1.46%); MM aggregated with other tumours in the proband in 10/342 cases (2.9%); MM with a family history of MM in 13/342 cases (3.8%) and MM with a family history of other tumours in 28/342 cases (8.2%). We propose pedigree construction to 41 subjects: we collected 23 pedigrees, 14 pedigree are ongoing, while 4 cases refused their consent. Conclusion: Patient affected by Malignant Melanoma seems to be at increased risk to develop other tumours and healthy individuals belonging to families with a high clustering for malignant melanoma and other tumours could be at risk for cancers.

Retrospective Analysis of Familial Clustering for Malignant Melanoma

CAPUANO, IDA;SPAGNOLETTI, ILARIA;PENSABENE, MATILDE;PEPE, STEFANO;FABBROCINI, GABRIELLA;SCALVENZI, MASSIMILIANO;DELFINO, MARIO;MOLEA, GUIDO;CONTEGIACOMO, ALMA
2003

Abstract

Background: Malignant Melanoma (MM) is familial in 5-7% of cases. Germline mutations of the CDKN2 and CDK4 genes are involved in the pathogenesis of hereditary MM, but the high frequency of familial clustering suggests other genes involved. MM seems to cluster with hereditary syndrome such as Hereditary Breast/Ovarian Cancer (HBOC). In this respect, some authors reported that carriers of BRCA 2 germline mutations have a significantly increased risk for MM (RR: 2.58). Aims: We investigate family history of MM patients to define the familial clustering for MM and history for othe tumours. Methods: We retrospectively analysed family of 342 consecutive MM cases referred from 1994 to 2002 to the “Gruppo Melanoma”, Azienda Universitaria Policlinico, University “Federico II” of Naples. We divided the cases into four subsets: 1) multiple MM; 2) MM aggregated with other tumours in the proband; 3) MM with a family history of MM; and 4) MM with a family history of other tumours. We collected the pedigree, after informed consent, in all cases with a family history of MM or other tumours. Results: data analysis showed: multiple MM in 5/342 cases (1.46%); MM aggregated with other tumours in the proband in 10/342 cases (2.9%); MM with a family history of MM in 13/342 cases (3.8%) and MM with a family history of other tumours in 28/342 cases (8.2%). We propose pedigree construction to 41 subjects: we collected 23 pedigrees, 14 pedigree are ongoing, while 4 cases refused their consent. Conclusion: Patient affected by Malignant Melanoma seems to be at increased risk to develop other tumours and healthy individuals belonging to families with a high clustering for malignant melanoma and other tumours could be at risk for cancers.
File in questo prodotto:
File Dimensione Formato  
Retrospective analysis of familial clustering for malignant melanoma.doc

non disponibili

Tipologia: Abstract
Licenza: Accesso privato/ristretto
Dimensione 41.5 kB
Formato Microsoft Word
41.5 kB Microsoft Word   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: https://hdl.handle.net/11588/493189
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact