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Double take! Mosaic Li Fraumeni syndrome in monozygotic twins

Date:
Thursday, Nov 15, 2018 6:00pm – 7:15pm
Conference:
NSGC 2018
Authors:
Carla Mason, Melissa Pronold, Stephany Connor, Victoria Costello
  • In this case report we describe we report on monozygotic (MZ) twins found to have the same mosaic TP53 mutation. To our knowledge, this is the first report of classic mosaicism associated with LFS in a MZ twin pair.
  • Despite the somatic origin for the majority of TP53 alterations with abnormal NGS metrics, this case highlights the importance of follow-up germline testing in MZ twins when mosaicism is found in a sibling.
Abstract