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Showing 1 to 16 of 16 for “"Familial Adenomatous Polyposis"”.
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Familial adenomatous polyposis: a genotype - phenotype correlation
This document only includes an excerpt of the corresponding thesis or dissertation. To request a digital scan of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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Availability of Dental Anomaly Phenotype In Individuals With Familial Adenomatous Polyposis
… Mutations in the <em>APC</em> gene cause familial adenomatous polyposis (FAP), an autosomal dominant colorectal cancer predisposition associated with the development of hundreds to thousands of adenomatous colorectal polyps beginning in childhood or adolescence. Both malignant and …
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Genomic Characterization of Polyps In Familial Adenomatous Polyposis Patients and Identification of Candidate Chemopreventive Drugs
<p><em>Familial adenomatous polyposis</em> (FAP) is an autosomal dominant disease characterized by <em>APC</em> germline mutations and the development of hundreds to thousands of premalignant adenomas in the gastrointestinal tract at a young age. If left untreated, these patients inevitably develop …
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The Role of Epigenetics in Hereditary Colorectal Cancer Tumorigenesis: Validation of Genome-Wide Methylation Array Results through Bisulfite Sequencing
… have a hereditary basis, with Lynch syndrome and Familial adenomatous polyposis standing as the two predominant cancer-predisposing syndromes. These conditions are mainly attributed to specific dominant germline mutations in CRC-related genes. However, as the role of epigenetic modifications, …
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Communication In Family Members With A Rare APC Mutation
<p>OBJECTIVES: APC-associated polyposis is caused by mutations in the APC gene and includes familial adenomatous polyposis (FAP), an autosomal dominant cancer predisposition syndrome which has a lifetime risk of colon cancer of almost 100%. Identifying a genetic mutation can provide important …
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Assessing Parental Attitudes Towards Hepatoblatosma Screening
<p>OBJECTIVES: Familial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome with nearly a 100% lifetime risk of developing colorectal cancer, if left untreated. Children with FAP have up to a 2% risk for the development of hepatoblastoma (HB). Guidelines for HB …
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Novel interactions and functions of the Adenomatous polyposis coli protein
Mutations of the Adenomatous polyposis coli (APC) gene are a frequent and early event in the development of sporadic colorectal cancer and also form the genetic basis of familial adenomatous polyposis. APC is an established regulator of the cytoskeleton, however, the tumour suppressive function of …
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Targeting the intestinal stem cell niche through energy and metabolism signaling, for colorectal cancer chemoprevention using aspirin and metformin
… genetic backgrounds were established: sporadic, familial adenomatous polyposis (FAP), and Peutz- Jeghers syndrome (PJS). Upon treatment with aspirin and metformin, LGR5 and CMYC transcript levels were reduced in all normal mucosa patient-derived organoids. Aspirin and metformin attenuated the …
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Fluorescence endoscopic imaging system for detection of colonic adenomas
… from colectomy specimens from patients with familial adenomatous polyposis and in vivo from patients undergoing routine colonoscopy. Each raw image was corrected for differences in distance and instrument light collection efficiency by normalizing to a spatially averaged image. Intensity …
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The role of deficient mismatch repair system in Lynch syndrome and the increased risk of colorectal cancer
… Lynch syndrome was termed hereditary non-polyposis colorectal cancer (HNPCC) in order to distinguish it from the second most common inherited cancer syndrome, familial adenomatous polyposis (FAP) (Zhang et al., 2015). The term Lynch syndrome is now considered a more specific diagnosis than …
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Somatic evolution in healthy and chronically inflamed colon and skin
… rate in the normal colon and in individuals with Familial adenomatous polyposis (FAP). I estimate the rate of crypt fission to be one every 27 years in the normal colon and one every 13 years in (FAP). In Chapter 3, I describe somatic evolution in the colon under conditions of chronic inflam- …
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Prostate cancer evolution employing artificial intelligence to enhance biomarker discovery
… that were well correlated to their cancer type. Familial adenomatous polyposis (FAP), a key gene within the candidate signature produced from the FASTMAN prostate cancer dataset, has been associated with prostate cancer metastatic disease and is seen to be expressed in prostate cancer …
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Epigallocatechin-3-gallate and tolfenamic acid induces apoptosis and growth inhibition in head and neck cancer : Involvement of NSAID activated gene-1
… clinically used as chemopreventive agents for familial adenomatous polyposis, with the mode of action being the inhibition of cyclooxygenase-2 (COX-2). However, chemopreventive and antitumorigenic activities of NSAIDs have also been observed in COX-2-deficient cells, indicating that NSAIDs also …
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Investigating the functional significance of the upregulation of Cyclin D2 and p21 following Apc loss in vivo
The Apc gene encodes the Adenomatous polyposis coli tumour suppressor protein, the germ line mutation of which characterizes Familial Adenomatous Polyposis (FAP), an autosomal syndrome characterized by multiple colorectal lesions. Inactivation of the Apc gene is recognized as a key early event in …
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Genomic and Transcriptomic Landscape of Colorectal Premalignancy
<p>Colorectal cancer (CRC) is the third most commonly diagnosed cancer among men and women in the United States, with 3 to 5 percent of the cases diagnosed in the background of a hereditary form of the disease. Biologically, CRC is divided into two groups: microsatellite instable (MSI) and …