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

@inproceedings{Giannikou2016WholeES,
  title={Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development},
  author={Krinio Giannikou and Izabela Agata Malinowska and Trevor J. Pugh and Rachel Yan and Yuen-Yi Tseng and Coyin Oh and Jaegil Kim and Magdalena E. Tyburczy and Yvonne I Chekaluk and Yang Liu and Nicola Alesi and Geraldine A Finlay and Chin-lee Wu and Sabina Signoretti and Matthew L Meyerson and Gad Getz and Jesse S Boehm and Elizabeth P Henske and David J Kwiatkowski},
  booktitle={PLoS genetics},
  year={2016}
}
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 hemorrhage and kidney failure. Both angiomyolipoma and LAM have mutations in TSC2 or TSC1. However, the frequency and contribution of other somatic events in tumor development is unknown. We performed… CONTINUE READING
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