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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Genetics of familial melanoma: 20 years after CDKN2A

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Conjunctival melanoma copy number alterations and correlation with mutation status, tumor features and clinical outcome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Increasing the complexity: new genes and new types of albinism

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

Twenty years ago, the first familial melanoma susceptibility gene, CDKN2A, was identified. Two years later, another high-penetrance gene, CDK4, was found to be responsible for melanoma development in some families. Progress in identifying new familial melanoma genes was subsequently slow; however, with the advent of next-generation sequencing, a small number of new high-penetrance genes have recently been uncovered. This approach has identified the lineage-specific oncogene MITF as a susceptibility gene both in melanoma families and in the general population, as well as the discovery of telomere maintenance as a key pathway underlying melanoma predisposition. Given these rapid recent advances, this approach seems likely to continue to pay dividends. Here, we review the currently known familial melanoma genes, providing evidence that most additionally confer risk to other cancers, indicating that they are likely general tumour suppressor genes or oncogenes, which has significant implications for surveillance and screening.

OriginalsprogEngelsk
TidsskriftPigment Cell & Melanoma Research
Vol/bind28
Udgave nummer2
Sider (fra-til)148-60
Antal sider13
ISSN1755-1471
DOI
StatusUdgivet - mar. 2015

ID: 45094725