Can I read Mutation analysis of the CDKN2A promoter in Australian melanoma families on EtoBox?

Mutation analysis of the CDKN2A promoter in Australian melanoma families by Pamela M. Pollock; Mitchell S. Stark; Jane M. Palmer; Marilyn K. Walters; Joanne F. Aitken; Nicholas G. Martin; Nicholas K. Hayward is a Medicine article available to read on EtoBox.

What is Mutation analysis of the CDKN2A promoter in Australian melanoma families about?

## 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.__ Several Canadian families have been reported to carry a mutation in the 5′ UTR, at position −34 relative to the start site, which gives rise to a novel AUG translation initiation codon that markedly decreases translation from the wild‐type AUG (Liu et al., 1999). Haplotype sharing in these Canadian families suggested that this mutation is of British origin. We sequenced 1,327 base pairs (bp) of __CDKN2A,__ making up 1,116 bp of the 5′ UTR and promoter, all of exon 1, and 61 bp of intron 1, in at least one melanoma case from 110 Australian families with three or more affected members known not to carry mutations within the p16 coding region. In addition, 431 bp upstream of the start codon was sequenced in an additional 253 affected probands from two‐case melanoma families for which the __CDKN2A__ mutation status was unknown. Several known polymorphisms at positions −33, −191, −493, and −735 we

Who reads Mutation analysis of the CDKN2A promoter in Australian melanoma families?

Author

Pamela M. Pollock; Mitchell S. Stark; Jane M. Palmer; Marilyn K. Walters; Joanne F. Aitken; Nicholas G. Martin; Nicholas K. Hayward

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1045-2257)

Published

2001

Language

EN

Field

Medicine (Life Sciences)