Anne Goriely - Illumina

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Proposed mechanism FGFR2 Ser252Trp Apert mutation 15-20% of endometrial cancers carry FGFR2 mutations (half have the Apert Ser252Trp mutation) (Pollock et al., Oncogene 2007) Proliferation Differentiation Spermatogonial stem cell/progenitor Clonal expansion of FGFR2 mutant spermatogonial cells Spermatozoa Testicular tumours?
FGFR3 mutation in testicular tumours 1948A>G (K650E) mutation in FGFR3 Dighe et al Radiographics, 2008 <strong>Goriely</strong> et al, Nat Genet, 2009 n = 30 spermatocytic seminoma Thanatophoric Dysplasia (TD II)
Page 1 and 2: Ageing men, selfish testes and pate
Page 3 and 4: “Paternal age-effect” mutations
Page 5 and 6: Human spermatogenesis and copy-erro
Page 7 and 8: Selection of mutant sequences at FG
Page 9 and 10: Estimated level (per million) Recon
Page 11 and 12: Copy-error hypothesis vs. selection
Page 13: Proportion on -112G Unequal distrib
Page 17 and 18: Clinical genetics of FGFR3 K650 cod
Page 19 and 20: Construction of the GAII libraries
Page 21 and 22: 3 lanes of 36-bp unidirectional GAI
Page 23 and 24: TD mutations in benign skin tumours
Page 25 and 26: HRAS mutations in cancer and Costel
Page 27 and 28: Goriely et al., Nat Genet, 2009 Str
Page 29 and 30: Are PAE mutations the tip of the ic
Page 31: Thanks to… WIMM (Oxford) Ruth Han

Anne Goriely - Illumina

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