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Updated: Jun 20, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

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在被诊断为儿科软组织肉瘤的患者中发生的生殖系变异

Synnøve Yndestad1, Hans Kristian Haugland2, Dorota Goplen3

  • 1K.G. Jebsen Center for Genome-Directed Cancer Therapy, Department of Clinical Science, University of Bergen, Norway; Department of Oncology, Haukeland University Hospital, Bergen, Norway.

Acta oncologica (Stockholm, Sweden)
|July 22, 2024
PubMed
概括

年轻软组织肉瘤患者中很大一部分携带病原性生殖系变体 (PVs). 这项研究在17%的病例中确定了PV,突出了MYO5B和MYO3A在肉瘤发展中的潜在作用.

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相关概念视频

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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