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Different Expressivity of two Adjacent Mutations of the APC Gene

Tumori Journal, 1999
Aims and background The phenotypic expression of different APC mutations in familial adenomatous polyposis (FAP) is variable: two to three variants of the disease have been defined based on the severity of colonic manifestations. Age of onset and number of polypectomies per person-year of postsurgical follow-up were compared in two FAP families with ...
PRESCIUTTINI, SILVANO   +11 more
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Adenomatous polyposis coli (Apc) tumor suppressor gene as a multifunctional gene

Anatomical Science International, 2005
The adenomatous polyposis coli (Apc) gene is mutated in familial adenomatous polyposis and in sporadic colorectal tumors. The Apc gene product (APC), basically a cytoplasmic protein, blocks cell cycle progression and plays crucial roles in development.
Takao, Senda   +2 more
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Study of the APC gene function in the mouse APC+/APC1638N model.

Neuro endocrinology letters, 2016
Familial adenomatous polyposis (FAP) is an autosomal dominant disease characterized by the presence of hundreds to thousands of benign polyps in the colon. If not removed prophylactically they represent a risk of developing malignant cancer with an almost 100% penentrance. FAP is induced by germline mutation in the APC gene.
Zuzana, Adamcikova   +10 more
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Purification of the Adenomatous Polyposis Coli (APC) Gene Product

Archives of Biochemistry and Biophysics, 1995
Mutation of the adenomatous polyposis coli (APC) gene is responsible for familial adenomatous polyposis and is an etiologic factor for digestive tract malignancies. Although the APC gene product (APC) is believed to play a role in growth suppression of colonocytes, the underlying mechanism is not clear. However, recent evidence does suggest that APC is
G, Bhattacharya   +3 more
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Association of the APC Gene Product with β-Catenin

Science, 1993
Mutations in the human APC gene are linked to familial adenomatous polyposis and to the progression of sporadic colorectal and gastric tumors. To gain insight into APC function, APC-associated proteins were identified by immunoprecipitation experiments. Antibodies to APC precipitated a 95-kilodalton protein that was
B, Rubinfeld   +7 more
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[The APC gene].

Nihon rinsho. Japanese journal of clinical medicine, 1996
The tumor suppressor gene APC is mutated in most cases of familial adenomatous polyposis (FAP) and sporadic colorectal tumors. The product of the APC gene is a 300 kDa protein present in the cytoplasm as a homodimer. Interestingly, the APC protein is known to interact with the adherence junction protein catenin, suggesting that APC may be involved in ...
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Brain metastases exhibit gross deletions of the APC gene

Brain Tumor Pathology, 2011
Candidate genes involved in metastasis to the brain require investigation. In the present study, the adenomatous polyposis coli (APC) gene was analyzed in a set of human brain metastases. Gross deletions of the APC gene were tested by polymerase chain reaction/loss of heterozygosity (LOH) using the restriction fragment length polymorphism method ...
Pećina-Šlaus, Nives   +3 more
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APC Gene Expression in Gastric Carcinoma: An Immunohistochemical Study

Applied Immunohistochemistry & Molecular Morphology, 2002
Gastric carcinoma is one of the most common malignancies worldwide, particularly in Japan and China. Inactivation of the adenomatous polyposis coli ( ) gene, a tumor suppressor gene, has been shown to play a significant role in the development of colorectal carcinoma, and it has been suggested that it may play a role throughout the digestive tract ...
A, Grace   +6 more
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Biallelic inactivation of the APC gene in hepatoblastoma.

Cancer research, 1995
Familial adenomatous polyposis (FAP) is an inherited disorder caused by germline mutation of the adenomatous polyposis coli (APC) gene. Increased risk of hepatoblastoma (HBL) in FAP kindreds has been reported. To determine whether inactivation of the APC gene plays a role in development of HBL, 13 sporadic infantile hepatic tumors were analyzed for ...
H, Kurahashi   +7 more
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The APC gene product and colorectal carcinogenesis.

Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie, 1997
The adenomatous polyposis coli (APC) gene has been found to be mutated during the development of sporadic colorectal tumours as well as in familial adenomatous polyposis patients (FAP), mutations being somatic or germinal respectively. The gene product is truncated in the carboxyterminal region but the role of the APC protein in tumorigenesis is not ...
C, Bonneton, L, Larue, J P, Thiéry
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