A 5′-truncated c-myc gene variant not associated with a risk of cancer

N. S. Pellegata, G. Bergamaschi, D. Amadori, A. Aloia, P. Ballarini, L. Del Senno, L. Amaducci, G. N. Ranzani

Research output: Contribution to journalArticlepeer-review


By analyzing c-myc specific fragments from white blood cell DNAs of 98 gastric cancer patients and 46 control subjects, we observed 6 unexpected patterns due to presence of a variant c-myc gene in addition to the normal gene. Restriction enzyme mapping indicated that the variant c-myc gene was the result of a 5′ deletion including the first exon and part of the first intron. The deleted region, non-coding for the functional c-myc protein, contains sequences involved in the regulation of transcription. We therefore analyzed the c-myc mRNAs from a subject carrying the truncated gene and from a subject homozygous for the normal gene in Northern blotting experiments: the mRNAs were indistinguishable, both qualitatively and quantitatively. Family analysis demonstrated that the truncated gene is inherited in a Mendelian fashion. Population studies showed that the allele, both in patients and in control subjects, reaches a polymorphic frequency (2.1% for the whole sample) and that it is not associated with a risk of cancer.

Original languageEnglish
Pages (from-to)579-582
Number of pages4
JournalHuman Genetics
Issue number5
Publication statusPublished - Sep 1991

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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