Organ site specificity for cancer in chromosomal instability disorders

Andrew P. Feinberg, Donald S. Coffey

Research output: Contribution to journalArticlepeer-review


DNA rearrangement rather than point mutation is an emerging hypothesis for human carcinogenesis. Although there is no direct evidence for this hypothesis, indirect evidence is provided by cancer cytogenetics and genetics. It has been suggested that patients with Bloom’s syndrome, a disorder of spontaneous chromosomal rearrangement, develop the common fatal internal cancers and thus that genetic rearrangements, rather than chemical mutagens, cause most internal human cancers. To test this observation, we have derived age and sex-adjusted cancer incidence rate ratios for specific organ sites in patients with three chromosomal instability disorders (Bloom’s syndrome, xeroderma pigmentosum, and dyskeratosis congenita) and have found that the increased incidence of cancer in all three disorders is limited to specific and often uncommon organ sites. We conclude that chromosomal instability disorders do not predispose patients to the common fatal internal cancers. Although DNA rearrangement remains a promising concept in human carcinogenesis, the organ site specificity of cancers associated with Bloom’s syndrome, xeroderma pigmentosum, and dyskeratosis congenita cannot be used as evidence to implicate this mechanism.

Original languageEnglish (US)
Pages (from-to)3252-3254
Number of pages3
JournalCancer Research
Issue number8
StatePublished - Aug 1 1982

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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