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

doi:10.1016/0092-8674(93)90538-2

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

Gastroenterology Hepatology & Nutrition

Research output: Contribution to journal › Article › peer-review

549 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	951-957
Number of pages	7
Journal	Cell
Volume	75
Issue number	5
DOIs	https://doi.org/10.1016/0092-8674(93)90538-2
State	Published - Dec 3 1993

ASJC Scopus subject areas

General Biochemistry, Genetics and Molecular Biology

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Spirio, L., Olschwang, S., Groden, J., Robertson, M., Samowitz, W., Joslyn, G., Gelbert, L., Thliveris, A., Carlson, M., Otterud, B., Lynch, H., Watson, P., Lynch, P., Laurent-Puig, P., Burt, R., Hughes, J. P., Thomas, G., Leppert, M., & White, R. (1993). Alleles of the APC gene: An attenuated form of familial polyposis. Cell, 75(5), 951-957. https://doi.org/10.1016/0092-8674(93)90538-2

Spirio, L, Olschwang, S, Groden, J, Robertson, M, Samowitz, W, Joslyn, G, Gelbert, L, Thliveris, A, Carlson, M, Otterud, B, Lynch, H, Watson, P, Lynch, P, Laurent-Puig, P, Burt, R, Hughes, JP, Thomas, G, Leppert, M & White, R 1993, 'Alleles of the APC gene: An attenuated form of familial polyposis', Cell, vol. 75, no. 5, pp. 951-957. https://doi.org/10.1016/0092-8674(93)90538-2

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abstract = "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.",

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

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AU - Samowitz, Wade

AU - Joslyn, Geoff

AU - Gelbert, Lawrence

AU - Thliveris, Andrew

AU - Carlson, Mary

AU - Otterud, Brith

AU - Lynch, Henry

AU - Watson, Patrice

AU - Lynch, Patrick

AU - Laurent-Puig, Pierre

AU - Burt, Randall

AU - Hughes, J. P.

AU - Thomas, Gilles

AU - Leppert, Mark

AU - White, Ray

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AB - 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.

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

Abstract

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