Familial Melanoma: Diagnostic and Management Implications

Background: An estimated 5%-10% of all cutaneous melanoma cases occur in families. This review describes susceptibility genes currently known to be involved in melanoma predisposition, genetic testing of familial melanoma patients, and management implications. Results: CDKN2A is the major high-pene...

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Autores principales:	Mariarita Rossi, Cristina Pellegrini, Ludovica Cardelli, Valeria Ciciarelli, Lucia Di Nardo, Maria Concetta Fargnoli
Formato:	article
Lenguaje:	EN
Publicado:	Mattioli1885 2019
Materias:	familial melanoma CDKN2A CDK4 genetic testing genetic counseling cancer screening Dermatology RL1-803
Acceso en línea:	https://doaj.org/article/7072bacbd15441c7ab8fa7220388396c
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spelling	oai:doaj.org-article:7072bacbd15441c7ab8fa7220388396c2021-11-17T08:29:44ZFamilial Melanoma: Diagnostic and Management Implications10.5826/dpc.0901a032160-9381https://doaj.org/article/7072bacbd15441c7ab8fa7220388396c2019-01-01T00:00:00Zhttp://dpcj.org/index.php/dpc/article/view/571https://doaj.org/toc/2160-9381 Background: An estimated 5%-10% of all cutaneous melanoma cases occur in families. This review describes susceptibility genes currently known to be involved in melanoma predisposition, genetic testing of familial melanoma patients, and management implications. Results: CDKN2A is the major high-penetrance susceptibility gene with germline mutations identified in 20%-40% of melanoma families. A positive CDKN2A mutation status has been associated with a high number of affected family members, multiple primary melanomas, pancreatic cancer, and early age at melanoma onset. Mutations in the other melanoma predisposition genes—CDK4, BAP1, TERT, POT1, ACD, TERF2IP, and MITF—are rare, overall contributing to explain a further 10% of familial clustering of melanoma. The underlying genetic susceptibility remains indeed unexplained for half of melanoma families. Genetic testing for melanoma is currently recommended only for CDKN2A and CDK4, and, at this time, the role of multigene panel testing remains under debate. Individuals from melanoma families must receive genetic counseling to be informed about the inclusion criteria for genetic testing, the probability of an inconclusive result, the genetic risk for melanoma and other cancers, and the debatable role of medical management. They should be counseled focusing primarily on recommendations on appropriate lifestyle, encouraging skin self-examination, and regular dermatological screening. Conclusions: Genetic testing for high-penetrance melanoma susceptibility genes is recommended in melanoma families after selection of the appropriate candidates and adequate counseling of the patient. All patients and relatives from melanoma kindreds, irrespective of their mutation status, should be encouraged to adhere to a correct ultraviolet exposure, skin self-examination, and surveillance by physicians. Mariarita RossiCristina PellegriniLudovica CardelliValeria CiciarelliLucia Di NardoMaria Concetta FargnoliMattioli1885articlefamilial melanomaCDKN2ACDK4genetic testinggenetic counselingcancer screeningDermatologyRL1-803ENDermatology Practical & Conceptual, Vol 9, Iss 1 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	familial melanoma CDKN2A CDK4 genetic testing genetic counseling cancer screening Dermatology RL1-803
spellingShingle	familial melanoma CDKN2A CDK4 genetic testing genetic counseling cancer screening Dermatology RL1-803 Mariarita Rossi Cristina Pellegrini Ludovica Cardelli Valeria Ciciarelli Lucia Di Nardo Maria Concetta Fargnoli Familial Melanoma: Diagnostic and Management Implications
description	Background: An estimated 5%-10% of all cutaneous melanoma cases occur in families. This review describes susceptibility genes currently known to be involved in melanoma predisposition, genetic testing of familial melanoma patients, and management implications. Results: CDKN2A is the major high-penetrance susceptibility gene with germline mutations identified in 20%-40% of melanoma families. A positive CDKN2A mutation status has been associated with a high number of affected family members, multiple primary melanomas, pancreatic cancer, and early age at melanoma onset. Mutations in the other melanoma predisposition genes—CDK4, BAP1, TERT, POT1, ACD, TERF2IP, and MITF—are rare, overall contributing to explain a further 10% of familial clustering of melanoma. The underlying genetic susceptibility remains indeed unexplained for half of melanoma families. Genetic testing for melanoma is currently recommended only for CDKN2A and CDK4, and, at this time, the role of multigene panel testing remains under debate. Individuals from melanoma families must receive genetic counseling to be informed about the inclusion criteria for genetic testing, the probability of an inconclusive result, the genetic risk for melanoma and other cancers, and the debatable role of medical management. They should be counseled focusing primarily on recommendations on appropriate lifestyle, encouraging skin self-examination, and regular dermatological screening. Conclusions: Genetic testing for high-penetrance melanoma susceptibility genes is recommended in melanoma families after selection of the appropriate candidates and adequate counseling of the patient. All patients and relatives from melanoma kindreds, irrespective of their mutation status, should be encouraged to adhere to a correct ultraviolet exposure, skin self-examination, and surveillance by physicians.
format	article
author	Mariarita Rossi Cristina Pellegrini Ludovica Cardelli Valeria Ciciarelli Lucia Di Nardo Maria Concetta Fargnoli
author_facet	Mariarita Rossi Cristina Pellegrini Ludovica Cardelli Valeria Ciciarelli Lucia Di Nardo Maria Concetta Fargnoli
author_sort	Mariarita Rossi
title	Familial Melanoma: Diagnostic and Management Implications
title_short	Familial Melanoma: Diagnostic and Management Implications
title_full	Familial Melanoma: Diagnostic and Management Implications
title_fullStr	Familial Melanoma: Diagnostic and Management Implications
title_full_unstemmed	Familial Melanoma: Diagnostic and Management Implications
title_sort	familial melanoma: diagnostic and management implications
publisher	Mattioli1885
publishDate	2019
url	https://doaj.org/article/7072bacbd15441c7ab8fa7220388396c
work_keys_str_mv	AT mariaritarossi familialmelanomadiagnosticandmanagementimplications AT cristinapellegrini familialmelanomadiagnosticandmanagementimplications AT ludovicacardelli familialmelanomadiagnosticandmanagementimplications AT valeriaciciarelli familialmelanomadiagnosticandmanagementimplications AT luciadinardo familialmelanomadiagnosticandmanagementimplications AT mariaconcettafargnoli familialmelanomadiagnosticandmanagementimplications
_version_	1718425742945026048

Familial Melanoma: Diagnostic and Management Implications

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