Whole exome sequencing identified a novel pot1 variant as a candidate pathogenic allele underlying a li–fraumeni-like family

HIGHLIGHTS

  • who: Yuping Li from the Institute of Experimental Medicine University of Otago, New Zealand Denmark have published the research: Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Liu2013Fraumeni-like family, in the Journal: (JOURNAL)
  • what: The authors report a LFL family with early-onset sarcoma and lung cancers. The study was approved by the Ethics Committee of the First Affiliated Hospital of WenZhou Medical University and was conducted in accordance with the Declaration of Helsinki.
  • future: While further validation studies might be necessary to firmly establish . . .

     

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