Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.

@article{Kovacs2009DeletionsRT,
  title={Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.},
  author={Marietta Eva Kovacs and J{\'a}nos Papp and Zolt{\'a}n Szentirmay and Szabolcs Ott{\'o} and Edith Ol{\'a}h},
  journal={Human mutation},
  year={2009},
  volume={30 2},
  pages={197-203}
}
Several different genetic alterations in the etiology of Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]) are known, mostly point mutations and genomic rearrangements in 1 of at least 3 mismatch-repair (MMR) genes. However, no susceptibility factor has yet been identified in a significant part (30-50%) of clinicopathologically well-defined HNPCC families, suggesting the presence of other predisposing mechanisms. In a set of probands from 27 Lynch syndrome families who lacked… CONTINUE READING