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Mutation analysis of the CDKN2A promoter in Australian melanoma families

✍ 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

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## Abstract Approximately 50% of all melanoma families worldwide show linkage to 9p21‐22, 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

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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

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## Abstract Germline mutations in the __CDKN2A__ tumor suppressor gene located on 9p21 have been linked to development of melanomas in some families. A germline 3‐bp insertion in exon 2 of __CDKN2A__, leading to an extra arginine at codon 113 (113insR), has been identified in 17 Swedish melanoma fa