Coles et al. (1990) našli su je gubitak konstitutivne heterozigotnosti (LOH) na lokusu 17p13,3 u velikom dijelu slučajeva karcinoma dojke. LOH je bio rjeđi u pojasu 17p13.1, koji sadrži gen TP53 . Nije bilo korelacije između gubitka alela na dva mjesta na 17p. Ipak, gubitak heterozigotnosti na 17p13.3 bio je povezan sa prekomjernom ekspresijom p53 iRNK, a Coles et al. (1990) sugeriraju postojanje gena oko 20 megabaza telomernog TP53 koji regulira njegovu ekspresiju. Čini se da su lezije ovog regulatornog gena uključene u većinu karcinoma dojke.
Stack et al. (1995) komentirali su visoku učestalost LOH (50-75%) u regiji 17p13.3, distalno od TP53 kod sporadičnog raka dojke, kao i visoku učestalost kod niza drugih malignih bolesti, uključujući rak jajnika, astrocitome, rak mokraćne bešike, meduloblastom , neuroektodermalni karcinom i osteosarkom. Utvrđeno je da LOH ne ovisi o gubitku na lokusu gena TP53, koji se nalazi oko 20 Mb proksimalno. Stack et al. (1995) istraživali su gubitak heterozigotnosti na panelu od 40 sporadičnih pacijentica sa tumorom dojke koristeći osam polimorfnih markera koje su u regiji 17p13.3, putem fluorescentne hibridizacije in situ. Njihovi nalazi pokazali su regiju visokog gubitka (60%) unutar distalne sekvence 17p13.3, definirane obližnjim markerima D17S926, D17S695 i D17S849. Studija je predstavila dodatne dokaze o postojanju lokusa supresora raka dojke. distalno od poznatih gena unutar 17p13.3.[3][4]
Reference
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Coles, C., Thompson, A. M., Elder, P. A., Cohen, B. B., Mackenzie, I. M., Cranston, G., Chetty, U., Mackay, J., Macdonald, M., Nakamura, Y., Hoyheim, B., Steel, C. M. Evidence implicating at least two genes on chromosome 17p in breast carcinogenesis. Lancet 336: 761-763, 1990. PubMed: 1976143
^Stack, M., Jones, D., White, G., Liscia, D. S., Venesio, T., Casey, G., Crichton, D., Varley, J., Mitchell, E., Heighway, J., Santibanez-Koref, M. Detailed mapping and loss of heterozygosity analysis suggests a suppressor locus involved in sporadic breast cancer within a distal region of chromosome band 17p13.3. Hum. Molec. Genet. 4: 2047-2055, 1995. [PubMed]: 8589680
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