Alleles of the APC gene: An attenuated form of familial polyposis

Lisa Spirio, Sylviane Olschwang, Joanna Groden, Margaret Robertson, Wade Samowitz, Geoff Joslyn, Lawrence Gelbert, Andrew Thliveris, Mary Carlson, Brith Otterud, Henry Lynch, Patrice Watson, Patrick Lynch, Pierre Laurent-Puig, Randall Burt, J. P. Hughes, Gilles Thomas, Mark Leppert, Ray White

Research output: Contribution to journalArticlepeer-review

534 Scopus citations


An attenuated form of familial adenomatous polyposis coli, AAPC, causes relatively few colonic polyps, but still carries a significant risk of colon cancer. The mutant alleles responsible for this attenuated phenotype have been mapped in several families to the adenomatous polyposis coli (APC) locus on human chromosome 5q. Four distinct mutations in the APC gene have now been identified in seven AAPC families. These mutations that predict truncation products, either by single base pair changes or frameshifts, are similar to mutations identified in families with classical APC. However, they differ in that the four mutated sites are located very close to one another and nearer the 5′ end of the APC gene than any base substitutions or small deletions yet discovered in patients with classical APC.

Original languageEnglish (US)
Pages (from-to)951-957
Number of pages7
Issue number5
StatePublished - Dec 3 1993

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)


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