Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

Journal Article · Mon Nov 01 04:00:00 EST 1993 · American Journal of Human Genetics; (United States)

OSTI ID:5440007

Stella, A; Resta, N; Susca, F; Guanti, G; Gentile, M ^[1]; Mareni, C; Montera, P ^[2]

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1. Universita di Bari (Italy)
2. Universita di Genova (Italy)

Familial adenomatous polyposis (FAP) is a premalignant disease inherited as an autosomal dominant trait, characterized by hundreds to thousands of polyps in the colorectal tract. Recently, the syndrome has been shown to be caused by mutations in the APC (adenomatous polyposis coli) gene located on chromosome 5q21. The authors studied two families that both presented a phenotype different from that of the classical form of FAP. The most important findings observed in these two kindreds are (a) low and variable number of colonic polyps (from 5 to 100) and (b) a slower evolution of the disease, with colon cancer occurring at a more advanced age than in FAP in spite of the early onset of intestinal manifestations. To determine whether mutations of the APC gene are also responsible for this variant syndrome, linkage studies were performed by using a series of markers both intragenic and tightly linked to the APC gene. The results provide evidence for exclusion of the APC gene as the cause of the variant form of polyposis present in the two families described. 30 refs., 1 fig., 1 tab.

• OSTI ID: 5440007
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 53:5; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
550900 -- Pathology
59 BASIC BIOLOGICAL SCIENCES
BIOLOGICAL MARKERS
BODY
CHROMOSOMES
DIGESTIVE SYSTEM
DISEASES
GASTROINTESTINAL TRACT
GENE MUTATIONS
HEREDITARY DISEASES
HUMAN CHROMOSOME 5
HUMAN CHROMOSOMES
INTESTINES
LARGE INTESTINE
MUTATIONS
ORGANS
PATHOGENESIS