CDKN2A testing threshold in a high-risk Australian melanoma cohort: number of primaries, family history and young age of onset impact risk.

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY(2020)

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摘要
: 1-5% of individuals with melanoma have a strong family history1 with a causal gene identified in ~30% of those families, most commonly CDKN2A.2 Genetic testing and counselling for CDKN2A improves sun-protective and surveillance behaviour3 without negative psychological sequelae.4 Given these advantages, dermatologists need to recognise those with a sufficient a priori risk to warrant the offer of genetic testing.
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关键词
CDKN2A ,familial melanoma,genetic testing
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