Naslov
Molecular ecidence of chromosome 9q22.3 deletions in Gorlin syndrome region A two-hit mechanism for developmental defects

Autori
Levanat, Sonja ; Pavelić, Božidar ; Crnić, Ivana ; Manojlović, Spomenka

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
International Journal of Oncology / Spandidos, D.A. - Atena : The 2nd World Congress on Advances in Oncology, 1997, 888-888

Skup
2nd World Congress on Advances in Oncology

Mjesto i datum
Atena, Grčka, 16.10.1997. - 18.10.1997

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Nije recenziran

Ključne riječi
tumor suppressor; Gorlin syndrome; two-hit theory; PTCH gene

Sažetak
We investigated the molecular basis for developmental defects in Gorlin syndrome, an autosomal dominant disorder predisposing for neoplasia(basal cell carcinomas, medulloblastomas and ovarian fibromas) as well as wide variety of developmental defects including pits of palms and soles, bifid ribs, spina bifida occulta and keratocysts of the jaws.LOH at 9q22.3 in hereditary tumors as well in sporadic cases implies that the Gorlin syndrome gene is homozygously inactivated and normaly functions as a tumor suppressor.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA