Ετικέτες

Πέμπτη 6 Απριλίου 2017

Pheochromocytoma and Paraganglioma Susceptibility Genes Estimating the Associated Risk of Disease

Approximately 40% of the tumors of the autonomic nervous system, pheochromocytomas and paragangliomas (PCC/PGL), are associated with an underlying inherited mutation, more than any other tumor type. Thus, germline mutation testing is recommended for all patients with PCC/PGL. Strong evidence supports an association of susceptibility for PCC/PGL with germline mutations in 10 genes (FH, MAX, NF1, RET, SDHA, SDHB, SDHC, SDHD, TMEM127, and VHL); mutations in an additional 5 genes also have been associated with disease susceptibility but with lower levels of evidence (EGLN1 [PHD2], EPAS1 [HIF2A], KIF1B, MET, and SDHAF2). Even for genes in which an association between mutation and disease has been well established, the frequency of mutations is quite rare; thus, a paucity of data exist on which to base clinical recommendations for patients regarding the risk for developing the first PCC/PGL (eg, if they are identified though familial mutation testing), additional primary PCC/PGLs, metastatic disease, and other tumor types.

http://ift.tt/2nOZyFo

Δεν υπάρχουν σχόλια:

Δημοσίευση σχολίου

Αναζήτηση αυτού του ιστολογίου