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Impact of RB1 gene screening from blood collected on a single day from 411 family members of 113 Retinoblastoma survivors in India.

Ayyasamy VanniarajanPuja MaitraKaruvel Kannan SaraswathiParag K Shah
Published in: Eye (London, England) (2024)
The detection of a germline mutation impacts the proband and family members due to its implications on change in prognosis, frequency of subsequent evaluations, screening for ocular and non-ocular cancers, and surveillance of family and future progeny.
Keyphrases
  • public health
  • young adults
  • copy number
  • dna repair
  • current status
  • optic nerve
  • loop mediated isothermal amplification
  • dna methylation
  • label free
  • dna damage
  • real time pcr
  • optical coherence tomography