Article
Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas.
Nature communications - 21 Jan 2015
Fishbein Lauren, Khare Sanika, Wubbenhorst Bradley, DeSloover Daniel, D'Andrea Kurt, Merrill Shana, Cho Nam Woo, Greenberg Roger A, Else Tobias, Montone Kathleen, LiVolsi Virginia, Fraker Douglas, Daber Robert, Cohen Debbie L, Nathanson Katherine L
Abstract excerpt
Pheochromocytomas and paragangliomas (PCC/PGL) are the solid tumour type most commonly associated with an inherited susceptibility syndrome. However, very little is known about the somatic genetic changes leading to tumorigenesis or malignant transformation. Here we perform whole-exome sequencing on a discovery set of 21 PCC/PGL and identify somatic ATRX mutations in two SDHB-associated tumours. Targeted...
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