Matches in SemOpenAlex for { <https://semopenalex.org/work/W2922502455> ?p ?o ?g. }
- W2922502455 endingPage "16" @default.
- W2922502455 startingPage "10" @default.
- W2922502455 abstract "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.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.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." @default.
- W2922502455 created "2019-03-22" @default.
- W2922502455 creator A5001849442 @default.
- W2922502455 creator A5008737246 @default.
- W2922502455 creator A5021496401 @default.
- W2922502455 creator A5021537126 @default.
- W2922502455 creator A5038153493 @default.
- W2922502455 creator A5055362200 @default.
- W2922502455 date "2019-01-31" @default.
- W2922502455 modified "2023-10-13" @default.
- W2922502455 title "Familial melanoma: diagnostic and management implications" @default.
- W2922502455 cites W1539433458 @default.
- W2922502455 cites W1551338341 @default.
- W2922502455 cites W1669915351 @default.
- W2922502455 cites W1881660869 @default.
- W2922502455 cites W1905929815 @default.
- W2922502455 cites W1967370147 @default.
- W2922502455 cites W1968003842 @default.
- W2922502455 cites W1971512164 @default.
- W2922502455 cites W1976552445 @default.
- W2922502455 cites W1985550131 @default.
- W2922502455 cites W1992258727 @default.
- W2922502455 cites W2004646359 @default.
- W2922502455 cites W2007265110 @default.
- W2922502455 cites W2014776263 @default.
- W2922502455 cites W2018641425 @default.
- W2922502455 cites W2021733492 @default.
- W2922502455 cites W2028621040 @default.
- W2922502455 cites W2030209169 @default.
- W2922502455 cites W2034183785 @default.
- W2922502455 cites W2051506850 @default.
- W2922502455 cites W2051555242 @default.
- W2922502455 cites W2051870471 @default.
- W2922502455 cites W2054905718 @default.
- W2922502455 cites W2066513458 @default.
- W2922502455 cites W2066518576 @default.
- W2922502455 cites W2070230289 @default.
- W2922502455 cites W2071818162 @default.
- W2922502455 cites W2082633012 @default.
- W2922502455 cites W2085610925 @default.
- W2922502455 cites W2086773265 @default.
- W2922502455 cites W2087791044 @default.
- W2922502455 cites W2091407294 @default.
- W2922502455 cites W2096469206 @default.
- W2922502455 cites W2097096041 @default.
- W2922502455 cites W2097900154 @default.
- W2922502455 cites W2098362338 @default.
- W2922502455 cites W2106093813 @default.
- W2922502455 cites W2106621675 @default.
- W2922502455 cites W2106854211 @default.
- W2922502455 cites W2108846242 @default.
- W2922502455 cites W2111705409 @default.
- W2922502455 cites W2115628422 @default.
- W2922502455 cites W2115693635 @default.
- W2922502455 cites W2122390969 @default.
- W2922502455 cites W2130634070 @default.
- W2922502455 cites W2131365547 @default.
- W2922502455 cites W2131467528 @default.
- W2922502455 cites W2131906164 @default.
- W2922502455 cites W2133282020 @default.
- W2922502455 cites W2145200245 @default.
- W2922502455 cites W2147450167 @default.
- W2922502455 cites W2153938645 @default.
- W2922502455 cites W2154683287 @default.
- W2922502455 cites W2158637523 @default.
- W2922502455 cites W2166030543 @default.
- W2922502455 cites W2167835377 @default.
- W2922502455 cites W2168219489 @default.
- W2922502455 cites W2170887950 @default.
- W2922502455 cites W2172049434 @default.
- W2922502455 cites W2189971331 @default.
- W2922502455 cites W2399939370 @default.
- W2922502455 cites W2403285751 @default.
- W2922502455 cites W2589017165 @default.
- W2922502455 cites W2789735901 @default.
- W2922502455 cites W2792293652 @default.
- W2922502455 cites W4293166735 @default.
- W2922502455 cites W2041253030 @default.
- W2922502455 doi "https://doi.org/10.5826/dpc.0901a03" @default.
- W2922502455 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6368081" @default.
- W2922502455 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30775140" @default.
- W2922502455 hasPublicationYear "2019" @default.
- W2922502455 type Work @default.
- W2922502455 sameAs 2922502455 @default.
- W2922502455 citedByCount "47" @default.
- W2922502455 countsByYear W29225024552019 @default.
- W2922502455 countsByYear W29225024552020 @default.
- W2922502455 countsByYear W29225024552021 @default.
- W2922502455 countsByYear W29225024552022 @default.
- W2922502455 countsByYear W29225024552023 @default.
- W2922502455 crossrefType "journal-article" @default.
- W2922502455 hasAuthorship W2922502455A5001849442 @default.
- W2922502455 hasAuthorship W2922502455A5008737246 @default.
- W2922502455 hasAuthorship W2922502455A5021496401 @default.
- W2922502455 hasAuthorship W2922502455A5021537126 @default.
- W2922502455 hasAuthorship W2922502455A5038153493 @default.
- W2922502455 hasAuthorship W2922502455A5055362200 @default.
- W2922502455 hasBestOaLocation W29225024551 @default.