Selection criteria for genetic assessment of patients with familial melanoma Journal Article
| Authors: | Leachman, S. A.; Carucci, J.; Kohlmann, W.; Banks, K. C.; Asgari, M. M.; Bergman, W.; Bianchi-Scarrà, G.; Brentnall, T.; Bressac-de Paillerets, B.; Bruno, W.; Curiel-Lewandrowski, C.; de Snoo, F. A.; Debniak, T.; Demierre, M. F.; Elder, D.; Goldstein, A. M.; Grant-Kels, J.; Halpern, A. C.; Ingvar, C.; Kefford, R. F.; Lang, J.; MacKie, R. M.; Mann, G. J.; Mueller, K.; Newton-Bishop, J.; Olsson, H.; Petersen, G. M.; Puig, S.; Rigel, D.; Swetter, S. M.; Tucker, M. A.; Yakobson, E.; Zitelli, J. A.; Tsao, H. |
| Article Title: | Selection criteria for genetic assessment of patients with familial melanoma |
| Abstract: | Approximately 5% to 10% of melanoma may be hereditary in nature, and about 2% of melanoma can be specifically attributed to pathogenic germline mutations in cyclin-dependent kinase inhibitor 2A (CDKN2A). To appropriately identify the small proportion of patients who benefit most from referral to a genetics specialist for consideration of genetic testing for CDKN2A, we have reviewed available published studies of CDKN2A mutation analysis in cohorts with invasive, cutaneous melanoma and found variability in the rate of CDKN2A mutations based on geography, ethnicity, and the type of study and eligibility criteria used. Except in regions of high melanoma incidence, such as Australia, we found higher rates of CDKN2A positivity in individuals with 3 or more primary invasive melanomas and/or families with at least one invasive melanoma and two or more other diagnoses of invasive melanoma and/or pancreatic cancer among first- or second-degree relatives on the same side of the family. The work summarized in this review should help identify individuals who are appropriate candidates for referral for genetic consultation and possible testing. © 2009 American Academy of Dermatology, Inc. |
| Keywords: | primary tumor; gene mutation; review; patient selection; cancer patient; pancreas cancer; cancer diagnosis; cancer incidence; phenotype; melanoma; skin neoplasms; prevalence; cohort analysis; genetic association; genetic variability; mutational analysis; risk assessment; cancer invasion; family history; consultation; australia; familial cancer; dysplastic nevus; cyclin dependent kinase inhibitor 2a; genetic risk; genetic predisposition; genetic screening; melanocortin 1 receptor; ethnicity; genetic testing; cdkn2a; familial; genetic counseling; hereditary; p16; cyclin dependent kinase 4; protein p14; geography |
| Journal Title: | Journal of the American Academy of Dermatology |
| Volume: | 61 |
| Issue: | 4 |
| ISSN: | 0190-9622 |
| Publisher: | Mosby Elsevier |
| Date Published: | 2009-10-01 |
| Start Page: | 677.e1 |
| End Page: | 677.e14 |
| Language: | English |
| DOI: | 10.1016/j.jaad.2009.03.016 |
| PUBMED: | 19751883 |
| PROVIDER: | scopus |
| PMCID: | PMC3307795 |
| DOI/URL: | |
| Notes: | --- - "Cited By (since 1996): 10" - "Export Date: 30 November 2010" - "CODEN: JAADD" - "Source: Scopus" |
