p53 Mutations and chromosome instability in basal cell carcinomas developed at an early or late age

Mariarosaria D'Errico, Angelo S. Calcagnile, Rosamaria Corona, Monica Fucci, Giorgio Annessi, Giannandrea Baliva, Maria Elena Tosti, Paolo Pasquini, Eugenia Dogliotti

Research output: Contribution to journalArticle

Abstract

Tumor DNA from 45 primary basal cell carcinoma (BCC) biopsies was screened for p53 gene mutations, chromosome 9 allele loss, and microsatellite instability. p53 mutation frequency increased significantly as a function of the age at BCC onset ranging from 6% (1/16) in early BCC (before age 40 years) to 35% (10/29) in late BCC. All p53 mutations found implicated sunlight as the mutagen. Chromosome 9 instability (allele loss or microsatellite instability) was detected at high frequency (38%) independently of age at tumor onset. Allelic loss was confined to chromosome 9q, whereas microsatellite instability was observed prevalently on chromosome 9p often in association with a replication error (RER+) phenotype. Most of our late BCC patients reported occupational sun exposure, while early BCC patients recalled childhood (0-20 years) recreational sun exposure. These data suggest that chronic exposure to sunlight is responsible for accumulation of p53 mutations and thus for late BCC appearance, whereas acute UV exposure in childhood and adolescence leads to early skin cancer development in genetically susceptible individuals via a p53-independent pathway.

Original languageEnglish
Pages (from-to)747-752
Number of pages6
JournalCancer Research
Volume57
Issue number4
Publication statusPublished - 1997

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Chromosomal Instability
Basal Cell Carcinoma
Microsatellite Instability
Mutation
Chromosomes, Human, Pair 9
Sunlight
Solar System
Chromosomes
Alleles
Loss of Heterozygosity
p53 Genes
Mutagens
Skin Neoplasms
Mutation Rate
Occupational Exposure
Age of Onset
Neoplasms
Biopsy
DNA

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

D'Errico, M., Calcagnile, A. S., Corona, R., Fucci, M., Annessi, G., Baliva, G., ... Dogliotti, E. (1997). p53 Mutations and chromosome instability in basal cell carcinomas developed at an early or late age. Cancer Research, 57(4), 747-752.

p53 Mutations and chromosome instability in basal cell carcinomas developed at an early or late age. / D'Errico, Mariarosaria; Calcagnile, Angelo S.; Corona, Rosamaria; Fucci, Monica; Annessi, Giorgio; Baliva, Giannandrea; Tosti, Maria Elena; Pasquini, Paolo; Dogliotti, Eugenia.

In: Cancer Research, Vol. 57, No. 4, 1997, p. 747-752.

Research output: Contribution to journalArticle

D'Errico, M, Calcagnile, AS, Corona, R, Fucci, M, Annessi, G, Baliva, G, Tosti, ME, Pasquini, P & Dogliotti, E 1997, 'p53 Mutations and chromosome instability in basal cell carcinomas developed at an early or late age', Cancer Research, vol. 57, no. 4, pp. 747-752.
D'Errico M, Calcagnile AS, Corona R, Fucci M, Annessi G, Baliva G et al. p53 Mutations and chromosome instability in basal cell carcinomas developed at an early or late age. Cancer Research. 1997;57(4):747-752.
D'Errico, Mariarosaria ; Calcagnile, Angelo S. ; Corona, Rosamaria ; Fucci, Monica ; Annessi, Giorgio ; Baliva, Giannandrea ; Tosti, Maria Elena ; Pasquini, Paolo ; Dogliotti, Eugenia. / p53 Mutations and chromosome instability in basal cell carcinomas developed at an early or late age. In: Cancer Research. 1997 ; Vol. 57, No. 4. pp. 747-752.
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AU - Annessi, Giorgio

AU - Baliva, Giannandrea

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