Recurrent germline mutation in MSH2 arises frequently de novo.

  title={Recurrent germline mutation in MSH2 arises frequently de novo.},
  author={Darius C. Desai and Janet C Lockman and Robert B. Chadwick and X Gao and Antonio Percesepe and D Gareth R Evans and Michiko Miyaki and Siu Tsan Yuen and Paolo Radice and Eamonn R Maher and Fred A. Wright and Albert de la Chapelle},
  journal={Journal of medical genetics},
  volume={37 9},
INTRODUCTION An intronic germline mutation in the MSH2 gene, A-->T at nt942+3, interferes with the exon 5 donor splicing mechanism leading to a mRNA lacking exon 5. This mutation causes typical hereditary non-polyposis colorectal cancer (HNPCC) and has been observed in numerous probands and families world wide. Recurrent mutations either arise repeatedly de novo or emanate from ancestral founding mutational events. The A-->T mutation had previously been shown to be enriched in the population of… CONTINUE READING


Publications citing this paper.
Showing 1-10 of 37 extracted citations


Publications referenced by this paper.
Showing 1-10 of 33 references

Nonparametric disequilibrium mapping when haplotypes are available

  • X Gao, FA Wright
  • Am J Hum Genet Suppl
  • 1999

Predominant germline mutation of the h MSH 2 gene in Japanese hereditary nonpolyposis colorectal cancer kindreds

  • YQ Bai, H AkiyamaYNagasaki, +11 authors Y Yuasa
  • Int J Cancer
  • 1999

Similar Papers

Loading similar papers…