Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.

@article{Paul1993IdenticalAE,
  title={Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.},
  author={Philip Christopher Paul and Tom G. W. Letteboer and Lawrence Gelbert and Joanna Groden and Ray White and Max J. Coppes},
  journal={Human molecular genetics},
  year={1993},
  volume={2 7},
  pages={925-31}
}
Germ-line mutations in the adenomatous polyposis coli (APC) gene result in familial adenomatous polyposis coli (APC), an inherited syndrome that predisposes affected individuals to early onset of colorectal cancer. Somatic APC mutations also have been detected in sporadic colon tumors. We have used single strand conformational polymorphism (SSCP) analysis to scan a region of the APC gene that frequently is mutated in both APC and sporadic colorectal cancer. Four truncating mutations were found… CONTINUE READING

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