Non-Coding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome

Non-Coding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome

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Intro

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Non-Coding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome

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  1. 1 Intro
  2. 2 Learning objectives
  3. 3 Outline
  4. 4 Hereditary colorectal cancer & polyposis syndromes
  5. 5 Mendelian colorectal cancer & polyposis syndromes
  6. 6 What is Lynch syndrome?
  7. 7 Mismatch repair machinery
  8. 8 Current diagnostic route for detection of Lynch syndrome
  9. 9 Analysis of germline and somatic coding aberrations in MMR genes
  10. 10 The majority of unexplained dMMR tumours have two somatic MMR mutations
  11. 11 Individuals with somatic dMMR have a higher age at diagnosis compared to LS patients
  12. 12 Some individuals with unexplained dMMR ("Lynch-like" syndrome) have clear family histories
  13. 13 Design of targeted long-read sequencing of MMR genes
  14. 14 Targeted long-read sequencing allows for the detection of SNV, small indels, exon deletions and Alu insertions
  15. 15 Targeted long-read MMR gene sequencing of individuals with Lynch-like syndrome
  16. 16 Non-coding aberrations in MMR genes functionally tested in mini- gene and promoter assays to validate pathogenicity
  17. 17 What can be the consequence of a deep intronic donor site introduction?
  18. 18 Functional analysis by use of a mini-gene splice assay
  19. 19 Noncoding aberrations in MMR genes functionally tested in mini- gene and promoter assays to validate pathogenicity
  20. 20 Noncoding aberrations in MMR genes functionally tested in mini-gene and promoter assays to validate pathogenicity
  21. 21 Summary & Future perspective

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