TY - JOUR
T1 - Attenuated familial adenomatous polyposis
T2 - A case report with mixed features and review of genotype-phenotype correlation
AU - Ionescu, Diana N.
AU - Papachristou, Georgios
AU - Schoen, Robert E.
AU - Hedge, Madhuri
AU - Richards, C. Sue
AU - Monzon, Federico A.
PY - 2005/11
Y1 - 2005/11
N2 - Familial adenomatous polyposis represents approximately 1% of all colorectal cancers and is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Most mutations are located within the first 2000 codons, and several mutational hot spots have been identified. The relative location of the mutation may be associated with the number of polyps and partially predicts specific phenotypic expression. Mutations associated with the attenuated phenotype are found predominantly in the 5′ region of the gene or in the last third. We describe a patient with a mutation in codon 161 of the APC gene, which displays a phenotype most closely resembling the attenuated form of familial adenomatous polyposis, and review the literature, the implications of this mutation, and the importance of the molecular testing in the proper and more complete characterization of these patients. Differences in the APC mutation sites alone cannot completely account for intrafamilial and interfamilial variation in the polyposis phenotypes.
AB - Familial adenomatous polyposis represents approximately 1% of all colorectal cancers and is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Most mutations are located within the first 2000 codons, and several mutational hot spots have been identified. The relative location of the mutation may be associated with the number of polyps and partially predicts specific phenotypic expression. Mutations associated with the attenuated phenotype are found predominantly in the 5′ region of the gene or in the last third. We describe a patient with a mutation in codon 161 of the APC gene, which displays a phenotype most closely resembling the attenuated form of familial adenomatous polyposis, and review the literature, the implications of this mutation, and the importance of the molecular testing in the proper and more complete characterization of these patients. Differences in the APC mutation sites alone cannot completely account for intrafamilial and interfamilial variation in the polyposis phenotypes.
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M3 - Review article
C2 - 16253019
AN - SCOPUS:27744485650
SN - 0003-9985
VL - 129
SP - 1401
EP - 1404
JO - Archives of Pathology and Laboratory Medicine
JF - Archives of Pathology and Laboratory Medicine
IS - 11
ER -