Nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome (CROSBI ID 85977)
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Podaci o odgovornosti
Levanat, Sonja ; Šitum, Mirna ; Lipozenčić, Jasna
engleski
Nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome
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.
Gorlin syndrome; NBCCS; tumor supresors; malformations; tumors
nije evidentirano
nije evidentirano
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nije evidentirano
nije evidentirano
nije evidentirano