CDKN2A testing threshold in a high‐risk Australian melanoma cohort: number of primaries, family history and young age of onset impact risk
| Autor: | Elizabeth Peach, Mitchell S. Stark, Tatiane Yanes, Katie J. Lee, Hans Peter Soyer, Aideen M. McInerney-Leo, K. Jagirdar, Richard A. Sturm, Erin McMeniman, David L. Duffy |
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| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty Skin Neoplasms Dermatology 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine CDKN2A medicine Humans Genetic Predisposition to Disease Age of Onset Family history Melanoma neoplasms Cyclin-Dependent Kinase Inhibitor p16 Germ-Line Mutation Genetic testing medicine.diagnostic_test business.industry Australia Familial Melanoma medicine.disease Causal gene Young age Infectious Diseases 030220 oncology & carcinogenesis Mutation Cohort business |
| Zdroj: | Journal of the European Academy of Dermatology and Venereology. 34 |
| ISSN: | 1468-3083 0926-9959 |
| DOI: | 10.1111/jdv.16627 |
| Popis: | 1-5% of individuals with melanoma have a strong family history with a causal gene identified in ~30% of those families, most commonly CDKN2A. Genetic testing and counselling for CDKN2A improves sun-protective and surveillance behaviour without negative psychological sequelae. Given these advantages, dermatologists need to recognise those with a sufficient a priori risk to warrant the offer of genetic testing. |
| Databáze: | OpenAIRE |
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