Point mutation in p14ARF-specific exon 1Beta of CDKN2A causing familial melanoma and astrocytoma (Research Letter)
McInerney-Leo, Aideen, Wheeler, Lawrie, Sturm, Richard, Tan, Jean-Marie, Harris, Jessica, Anderson, Lisa, Jagirdar, Kasturee, Brown, Matt, Leo, Paul, Soyer, H. Peter, & Duncan, Emma (2018) Point mutation in p14ARF-specific exon 1Beta of CDKN2A causing familial melanoma and astrocytoma (Research Letter). British Journal of Dermatology, 178(4), e263-e264.
Description
Research letter Dear Editor, Rarely, melanoma is dominantly inherited, with CDKN2A mutations accounting for > 85% of mutation‐positive families.1 CDKN2A encodes two, nonhomologous proteins, p16 and p14ARF, with individually unique first exons (1α and 1β, respectively) and alternative reading frames. Over 95% of the CDKN2A mutations in familial melanoma occur in the p16 transcript...
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| ID Code: | 117537 | ||||||||
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| Item Type: | Contribution to Journal (Letter) | ||||||||
| Refereed: | No | ||||||||
| ORCID iD: |
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| Additional Information: | Research letter - under 2 pages in length | ||||||||
| Measurements or Duration: | 2 pages | ||||||||
| DOI: | 10.1111/bjd.16275 | ||||||||
| ISSN: | 1365-2133 | ||||||||
| Pure ID: | 34531512 | ||||||||
| Divisions: | Past > QUT Faculties & Divisions > Faculty of Health Past > Institutes > Institute of Health and Biomedical Innovation |
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| Copyright Owner: | Consult author(s) regarding copyright matters | ||||||||
| Copyright Statement: | This work is covered by copyright. Unless the document is being made available under a Creative Commons Licence, you must assume that re-use is limited to personal use and that permission from the copyright owner must be obtained for all other uses. If the document is available under a Creative Commons License (or other specified license) then refer to the Licence for details of permitted re-use. It is a condition of access that users recognise and abide by the legal requirements associated with these rights. If you believe that this work infringes copyright please provide details by email to qut.copyright@qut.edu.au | ||||||||
| Deposited On: | 13 Apr 2018 13:58 | ||||||||
| Last Modified: | 25 Oct 2025 15:11 |
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