Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus

Lisa Spirio, Brith Otterud, Dora Stauffer, Henry Lynch, Patrick Lynch, Patrice Watson, Steven Lanspa, Thomas Smyrk, Jennifer Cavalieri, Linda Howard, Randall Burt, Ray White, Mark Leppert

Research output: Contribution to journalArticlepeer-review

119 Scopus citations


Adenomatous polyps are an intermediate in the pathway to colon carcinoma. An inherited disorder, familial adenomatous polyposis coli (APC), is characterized by hundreds to thousands of adenomatous polyps. A previously reported family had colon cancer associated with a low average but highly heterogenous number of colonic polyps, this phenotype mapped to the APC locus on 5q. Four new families have been ascertained in which the phenotypic pattern was different from classical polyposis but similar to that of the "prototype" kindred reported earlier. By multilocus linkage analysis, the gene responsible for the disease phenotype was mapped, with a high level of confidence, to the APC locus in two of the four families with the attenuated or variant form of polyposis (AAPC); the results for the two remaining kindreds were inconclusive. A combined maximum LOD score of approximately 7.6 at a recombination fraction of O was obtained when the results were summed over the four pedigrees with markers closest to the APC locus. The establishment of genetic linkage in such families may point to the APC locus as having a more significant role in inherited predispositions to colorectal cancer than was previously thought.

Original languageEnglish (US)
Pages (from-to)92-100
Number of pages9
JournalAmerican journal of human genetics
Issue number1
StatePublished - Jul 1992

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus'. Together they form a unique fingerprint.

Cite this