Br J Dermatol 2018 Apr 19;178(4):e263-e264. Epub 2018 Feb 19.
Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology (QUT) at Translational Research Institute, Woolloongabba, Queensland, Australia.
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Clin Genet 2010 Jun 4;77(6):581-6. Epub 2010 Feb 4.
Medical Genetics, Sapienza University, S. Camillo-Forlanini Hospital, Rome, Italy.
CDKN2A and CDK4 are the only known high-penetrant genes conferring proneness to cutaneous melanoma. The CDKN2A locus consists of four exons and encodes several alternate transcripts, two of which are p16(INK4a) and p14(ARF), and originate from different open reading frames. Exon 1alpha is specific for p16(INK4a), while exon 1beta characterizes p14(ARF). Read More
Hum Mol Genet 2001 Jan;10(1):55-62
ICRF Genetic Epidemiology Division, ICRF Clinical Centre in Leeds, Cancer Genetics Building, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.
The melanoma-astrocytoma syndrome is characterized by a dual predisposition to melanoma and neural system tumours, commonly astrocytoma. Germline deletions of the region on 9p21 containing the CDKN2A and CDKN2B genes and CDKN2A exon 1beta have been reported in kindreds, implicating contiguous tumour suppressor gene deletion as a cause of this syndrome. We describe a family characterized by multiple melanoma and neural cell tumours segregating with a germline deletion of the p14(ARF)-specific exon 1beta of the CDKN2A gene. Read More
Hum Mol Genet 2002 May;11(11):1273-9
University of Manchester Department of Medical Genetics and Regional Genetic Service, Central Manchester Healthcare Trust, St. Mary's Hospital, Manchester, M13 OJH, UK.
Familial melanoma predisposition is associated with germline mutations at the CDKN2A/ARF locus in up to 40% of families. The exact role of the two proteins encoded by this complex locus in this predisposition is unclear. Most mutations affect either CDKN2A only or products of both genes. Read More
Am J Pathol 2001 Aug;159(2):661-9
Departments of Neurosurgery and Neuropathology, University of Bonn Medical Center, Bonn, Germany.
We investigated 67 meningothelial tumors (20 benign meningiomas, 34 atypical meningiomas, and 13 anaplastic meningiomas) for losses of genetic information from chromosome arms 1p and 9p, as well as for deletion, mutation, and expression of the tumor suppressor genes CDKN2A (p16(INKa)/MTS1), p14(ARF), CDKN2B (p15(INK4b)/MTS2) (all located at 9p21) and CDKN2C (1p32). Comparative genomic hybridization and microsatellite analysis showed losses on 1p in 11 anaplastic meningiomas (85%), 23 atypical meningiomas (68%), and 5 benign meningiomas (25%). One atypical meningioma with loss of heterozygosity on 1p carried a somatic CDKN2C mutation (c. Read More