Molecular diagnostics of rare cancers (CROSBI ID 620416)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa
Podaci o odgovornosti
Drmić Hofman, Irena
engleski
Molecular diagnostics of rare cancers
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.
rare cancers; molecular diagnostics; networking
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Podaci o prilogu
2014.
objavljeno
Podaci o matičnoj publikaciji
Podaci o skupu
Genomics of Rare Diseases, Golden Helix Symposium
predavanje
30.10.2014-01.11.2014
Beograd, Srbija