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