Naslov
Molecular diagnostics of rare cancers

Autori
Drmić Hofman, Irena

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

Skup
Genomics of Rare Diseases, Golden Helix Symposium

Mjesto i datum
Beograd, Srbija, 30.10.2014. - 01.11.2014

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Nije recenziran

Ključne riječi
rare cancers; molecular diagnostics; networking

Sažetak
Rare cancers are generally classified in the group of rare diseases which are defined in the European Union as diseases with a prevalence less than 5 cases out of a population of 10, 000. Since small populations are afflicted, funding to investigate causes and treatments tends to be limited, slowing the discovery of potential therapies. Although the pace of gene discovery for rare cancers has accelerated during the past decade, translation of these discoveries to clinical utility has lagged behind. The identification of the gene responsible for an genetic disorder immediately presents the opportunity for molecular genetics diagnostics to confirm clinical diagnoses, provide accurate genetic counseling information and recurrence risks, as well as carrier testing and diagnosis opportunities for families. It is very important to organize a regional network to collect and disseminate information on diagnosis and management of rare cancers, disseminate information for patients and patients’ associations dedicated to rare cancers. This presentation discusses our experience in molecular diagnostics of rare tumors, especialy certain hereditary cancers.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA