Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.

Renal angiomyolipoma is a kidney tumor in the perivascular epithelioid (PEComa) family that is common in patients with Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) but occurs rarely sporadically. Though histologically benign, renal angiomyolipoma can cause life-threatening hem...

Full description

Bibliographic Details
Main Authors: Krinio Giannikou, Izabela A Malinowska, Trevor J Pugh, Rachel Yan, Yuen-Yi Tseng, Coyin Oh, Jaegil Kim, Magdalena E Tyburczy, Yvonne Chekaluk, Yang Liu, Nicola Alesi, Geraldine A Finlay, Chin-Lee Wu, Sabina Signoretti, Matthew Meyerson, Gad Getz, Jesse S Boehm, Elizabeth P Henske, David J Kwiatkowski
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-08-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC4975391?pdf=render