Naslov
Nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome

Autori
Levanat, Sonja ; Šitum, Mirna ; Lipozenčić, Jasna

Izvornik
Acta dermatovenerologica Croatica (1330-027X) 7 (1999), 1; 11-17

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Gorlin syndrome; NBCCS; tumor supresors; malformations; tumors

Sažetak
Gorlin Syndrome or Nevoid Basal Cell Carcinoma Syndrome (NBCCS) or Gorlin-Goltz syndrome is a rare autosomal dominant disorder characterized by predisposition to wide variety of tumors ( basocellular carcinomas(BCCs) are with highest frequency, ovarian fibroma and medulloblastoma) and developmental defects (jaw keratocysts are most frequent, then bifid ribs, pits of palms and soles, ectopic calcifications etc). Recently Gorlin syndrome gene was identified as PTCH or patched. PTCH mutations were found in various tumors and keratocysts related to the syndrome. It is accepted that PTCH is a tumor suppressor for BCC and medulloblastoma. Its gene product is a membrane receptor, a part of new signalling pathway (hedgehog /patched pathway). PTCH is only one known tumor suppressor whose mutacions contribute to tumor development and to wide variety of malformations, and it is probabbly tumor suppressor which plays important role in during development.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA