Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the protein truncation test.

@article{Necker2011DetectionOA,
  title={Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the protein truncation test.},
  author={Judith Necker and Michal B. Kovac and Mich{\`e}le Attenhofer and Bruno Reichlin and Karl Heinimann},
  journal={Journal of medical genetics},
  year={2011},
  volume={48 8},
  pages={526-9}
}
BACKGROUND Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited colorectal cancer predisposition caused by germ line mutations in the APC (adenomatous polyposis coli) gene. Current recommendations for APC mutation analysis advise full gene sequencing to identify point mutations and small insertions/deletions as well as the multiplex ligation dependent probe amplification (MLPA) technique to detect gene dosage alterations. Use of the protein truncation test (PTT) as a pre… CONTINUE READING