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Human Molecular Genetics, 2001, Vol. 10, No. 1 55-62
© 2001 Oxford University Press

A germline deletion of p14ARF but not CDKN2A in a melanoma–neural system tumour syndrome family

Juliette A. Randerson-Moor1, Mark Harland1, Sarah Williams2, Darren Cuthbert-Heavens3, Eamonn Sheridan4, Joanne Aveyard2, Kathryn Sibley2, Linda Whitaker1, Margaret Knowles2, Julia Newton Bishop1,5 and D. Timothy Bishop1,+

1ICRF Genetic Epidemiology Division, ICRF Clinical Centre in Leeds, Cancer Genetics Building, 2Molecular Genetics Laboratory, ICRF Clinical Centre in Leeds, 3ICRF Mutation Detection Facility, Ashley Wing, 4Clinical Genetics, Ashley Wing and 5ICRF Cancer Medicine Unit, ICRF Clinical Centre in Leeds, 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 1ß 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 p14ARF-specific exon 1ß of the CDKN2A gene. This deletion does not affect the coding or minimal promoter sequences of either the CDKN2A or CDKN2B genes. Our results are consistent with either: (i) loss of p14ARF function being the critical abnormality associated with this syndrome, rather than contiguous loss of both the CDKN2A and CDKN2B genes as suggested previously; or (ii) disruption of expression of p16 by mechanisms as yet unknown.

+ To whom correspondence should be addressed. Tel: +44 113 206 4573; Fax: +44 113 234 0183; Email: t.bishop@icrf.icnet.uk


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