- A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcriptsWenche Sjursen
Department of Pathology and Medical Genetics, St Olavs University Hospital, Erling Skjalgssons gt 1, 7006 Trondheim, Norway
Fam Cancer 8:179-86. 2009..cDNA analysis showed that the homozygous mutation led to two abnormal transcripts, of which one is perhaps less detrimental. Thus cDNA analysis is of prime importance for the full evaluation of the effect of putative splicing mutations...
- Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriersWenche Sjursen
Department of Pathology and Medical Genetics, St Olavs University Hospital, Trondheim, Norway
J Med Genet 47:579-85. 2010..The authors have previously reported that clinical criteria are not sensitive enough to identify MMR mutation carriers among incident colorectal cancer cases...