## Abstract Approximately 50% of all melanoma families worldwide show linkage to 9p21β22, but only about half of these have been shown to contain germ line __CDKN2A__ mutations. It has been hypothesized that a proportion of these families carry mutations in the noncoding regions of __CDKN2A.__ Seve
Mutation analysis of the CDKN2A promoter in Australian melanoma families
β Scribed by Pollock, Pamela. M.; Stark, Mitchell; Palmer, Jane M.; Walters, Marilyn K.; Martin, Nick G.; Green, Adele C.; Hayward, Nicholas K.
- Book ID
- 109831469
- Publisher
- Nature Publishing Group
- Year
- 2001
- Tongue
- English
- Weight
- 32 KB
- Volume
- 27
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/87254
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π SIMILAR VOLUMES
Germline mutations of CDKN2A, at 9p21, are responsible for predisposition to melanoma in some families. However, evidence of linkage to 9p21 has been demonstrated in a significant proportion of kindreds with no detectable mutations in CDKN2A. It is possible that mutations in noncoding regions may be
## Abstract Germline mutations in the __CDKN2A__ tumor suppressor gene located on 9p21 have been linked to development of melanomas in some families. A germline 3βbp insertion in exon 2 of __CDKN2A__, leading to an extra arginine at codon 113 (113insR), has been identified in 17 Swedish melanoma fa