|
Adenomatous Polyposis Coli
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Linkage analysis in familial adenomatous polyposis: order of C11P11 (D5S71) and pi 227 (D5S37) loci at the apc gene.
|
2571580 |
1989 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results suggest the following mechanisms for the development of colon tumors in patients with familial adenomatous polyposis: (a) the heterozygous mutant/wild-type condition at the APC gene causes formation of mild or moderate adenoma; (b) the loss of the normal allele in the APC gene leads to a change from moderate to severe adenoma; (c) LOH on chromosome 17p contributes to the conversion of adenoma to intramucosal carcinoma; (d) LOH on other chromosomes, such as 18 and 22q, are involved in the progression of intramucosal carcinoma to invasive carcinoma; and (e) K-ras mutation may also affect the development of moderate to severe adenoma.
|
1977514 |
1990 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Combined tumor and pedigree analysis in a GS family revealed loss of normal 5q alleles in three tumors, including a desmoid tumor, which suggests the involvement of hemizygosity or homozygosity of the defective APC gene in colon carcinogenesis and, possibly, in extracolonic neoplasms associated with FAP.
|
2172153 |
1990 |
|
Adenomatous Polyposis Coli
|
1.000 |
Biomarker
|
disease |
BEFREE |
These data not only allow use of flanking markers for presymptomatic diagnosis of FAP but also provide a high-density map of the region for isolation of the APC gene itself and for further assessment of the role of chromosome 5 deletions in the biology of sporadic colorectal cancer.
|
1978564 |
1990 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that more than one gene on chromosome 5q21 may contribute to colorectal neoplasia, and that mutations of the APC gene can cause both FAP and GS.
|
1651563 |
1991 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The refined map of the APC locus and the new markers described here improve the informativeness and accuracy of the presymptomatic diagnosis of familial adenomatous polyposis.
|
1646139 |
1991 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
These data suggest that more than one gene on chromosome 5q21 may contribute to colorectal neoplasia, and that mutations of the APC gene can cause both FAP and GS.
|
1651563 |
1991 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations of the APC gene are responsible for familial adenomatous polyposis (FAP), an autosomal dominantly inherited disease in humans.
|
1350108 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis.
|
1324223 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loss of normal allele of the APC gene in an adrenocortical carcinoma from a patient with familial adenomatous polyposis.
|
1351034 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results provide information helpful to an understanding of the APC gene and will also contribute to presymptomatic diagnosis of members in FAP families.
|
1338764 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.
|
1316610 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Our results provide information helpful to an understanding of the APC gene and will also contribute to presymptomatic diagnosis of members in FAP families.
|
1338764 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Yeast artificial chromosomes for the molecular analysis of the familial polyposis APC gene region.
|
1325652 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
Biomarker
|
disease |
BEFREE |
To evaluate the use of polymorphic DNA probes linked to the APC gene in the presymptomatic diagnosis of familial adenomatous polyposis.
|
1327364 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
Biomarker
|
disease |
BEFREE |
High-resolution banding studies indicated that the deletion in the patient with polyposis spans the region 5q21-q22, which includes APC, a gene involved in familial adenomatous polyposis and sporadic colon cancer.
|
1315124 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
Biomarker
|
disease |
BEFREE |
The APC gene is responsible for familial adenomatous polyposis and is considered to be a tumor suppressor gene associated with development of sporadic colorectal tumors.
|
1310068 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
Biomarker
|
disease |
BEFREE |
Recently, two genes in 5q21 involved in colon carcinogenesis, APC and MCC, were identified, and APC was shown to be the gene predisposing to familial adenomatous polyposis.
|
1643645 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The 15 exons of the APC gene responsible for the defect were amplified from the DNA of one FAP patient.
|
1350438 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The results reported here indicate that (1) familial adenomatous polyposis is caused by an extremely heterogeneous spectrum of point mutations; (2) all the mutations found in this study are chain terminating; and (3) DGGE represents a rapid and sensitive technique for the detection of mutations in the unusually large APC gene.
|
1324223 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We examined somatic mutations of the adenomatous polyposis coli (APC) gene in 63 colorectal tumors (16 adenomas and 47 carcinomas) developed in familial adenomatous polyposis (FAP) and non-FAP patients.
|
1338904 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
They imply that inactivation of APC, MCC, and/or a linked gene on chromosome 5q plays a role in the pathogenesis of some cancers of the upper gastrointestinal tract, as well as in colon cancer and familial adenomatous polyposis.
|
1565631 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Somatic mutation of the APC gene in gastric cancer: frequent mutations in very well differentiated adenocarcinoma and signet-ring cell carcinoma.
|
1338691 |
1992 |
|
Adenomatous Polyposis Coli
|
1.000 |
Biomarker
|
disease |
BEFREE |
The result suggests that the number of colorectal polyps in FAP patients may be associated with a difference in the stability or biological function of the truncated APC protein.
|
1319838 |
1992 |