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Pancreatic cancer in bloom syndrome.

Itai TzfoniJennifer ChayoMeital ShakedEzra BernsteinRoy DekelNadir ArberShiran Shapira
Published in: SAGE open medical case reports (2019)
Bloom syndrome is a rare autosomal recessive disorder characterized by distinct physical features, such as short stature, genomic instability, and predisposition to numerous cancers. The BLM gene encodes for the RecQ helicase that plays an important role in genome editing, maintenance, and stability. Mutations in the BLM gene cause genomic instability that exposes the carriers to a variety of cancers, and in particular hematological and gastrointestinal cancers. Herein, we report the first case of pancreatic cancer in a 32-year-old patient with bloom syndrome.
Keyphrases
  • genome editing
  • copy number
  • case report
  • crispr cas
  • physical activity
  • mental health
  • genome wide identification
  • intellectual disability
  • young adults
  • autism spectrum disorder