Kromosomske mutacije in podobni pojavi so vzrok številnih genskih bolezni pri človeku in obstajajo tehtni dokazi, da so kromosomske mutacije in podobni pojavi, ki povzročajo spremembe v onkogenih in genih, zaviralcih rasti tumorjev, somatskih celic, povezani z nastankom raka pri človeku in poskusnih živalih.
Chromosome mutations and related events are the cause of many human genetic diseases and there is substantial evidence that chromosome mutations and related events causing alterations in oncogenes and tumour suppressor genes of somatic cells are involved in cancer induction in humans and experimental animals.