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Melanoma

Color

Ο Γενετικός Έλεγχος Κληρονομούμενου Καρκίνου Color

Ανακαλύψτε εάν διαθέτετε γενετική προδιάθεση για εμφάνιση των συχνότερων μορφών κληρονομικού καρκίνου.

Το γενετικό τεστ Color αναλύει 30 γονίδια – συμπεριλαμβανομένων των BRCA1 και BRCA2 – και βοηθάει γυναίκες και άνδρες να ανακαλύψουν εάν διατρέχουν σημαντικό κίνδυνο εμφάνισης των συχνότερων μορφών κληρονομικού καρκίνου, όπως ο καρκίνος του μαστού, των ωοθηκών, του παχέος εντέρου, του παγκρέατος κ.α.

Επιλέγοντας το Color

BRAF mutation analysis

General:

BRAF belongs to a family of serine-threonine protein kinases that includes ARAF, BRAF, and CRAF (RAF1). RAF kinases are central mediators in the MAP kinase signaling cascade and exert their effect predominantly through phosphorylation and activation of MEK. This occurs following the dimerization (hetero- or homo-) of the RAF molecules. As part of the MAP kinase pathway, RAF is involved in many cellular processes, including cell proliferation, differentiation, and transcriptional regulation.

MELARIS - Myriad

MELARIS®: Hereditary Cancer Testing for Melanoma

MELARIS® testing assesses a person’s risk of developing hereditary melanoma. This test detects inherited mutations in the p16 gene (also called CDKN2A or INK4A), which are associated with hereditary melanoma and hereditary pancreatic cancer.

If your patient has a family history of cancer, the disease may come from an inherited genetic change. Changes in the p16 gene increase cancer risk, making a melanoma diagnosis up to 50 times more likely by age 50.

c-KIT mutation analysis

KIT is mutated in ~85% of GIST (Heinrich et al. 2003). The vast majority of KIT mutations are found in exon 11 (juxtamembrane domain; ~70%), exon 9 (extracellular dimerization motif; 10–15%), exon 13 (tyrosine kinase 1 (TK1) domain; 1–3%), and exon 17 (tyrosine kinase 2 [TK2] domain and activation loop; 1–3%) (Heinrich et al. 2003). Secondary KIT mutations in exons 13, 14, 17, and 18 are commonly identified in post-imatinib biopsy specimens, after patients have developed acquired resistance. ​

PDGFRα mutation analysis

Wild type GISTs have no detectable mutations in KIT, PDGFRα, or BRAF. Approximately half of patients with wild type GIST show stable disease for ≥ 6 months when treated with second line sunitinib (Heinrich et al. 2008).

In vitro studies of PDGFRα exon 12 mutations suggest sensitivity to imatinib and most reported patients have had responses (Heinrich et al. 2003). Too few patients have been included in clinical trials to have an accurate understanding of their response to treatment with either imatinib or sunitinib.