Research Topics
Genomes and Genes | Randall W BurtSummaryAffiliation: University of Utah Country: USA Publications
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Publications
Hamartomatous polyposis syndromesAmanda Gammon
Huntsman Cancer Institute, 2000 Circle of Hope, Salt Lake City, UT 84112 5550, USA
Best Pract Res Clin Gastroenterol 23:219-31. 2009....
Diagnosing Lynch syndrome: more light at the end of the tunnelRandall W Burt
Department of Medicine, School of Medicine, Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Salt Lake City, UT 84112, USA
Cancer Prev Res (Phila) 5:507-10. 2012....
Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposisRandall W Burt
Department of Medicine, University of Utah, Salt Lake City, USA
Gastroenterology 127:444-51. 2004..An attenuated form of familial adenomatous polyposis has been described, but the phenotype remains poorly understood...
Gastric fundic gland polypsRandall W Burt
Depsartment of Medicine, Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Salt Lake City, UT 84112, USA
Gastroenterology 125:1462-9. 2003
Colorectal cancer screeningRandall W Burt
Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112, USA
Curr Opin Gastroenterol 26:466-70. 2010..Recently published screening guidelines will be reviewed so physicians can understand them and how to deal with the differences. Each screening modality presently in use will then be reviewed with emphasis on efficacy and problems...
Genetic testing for inherited colon cancerRandall Burt
Huntsman Cancer Institute at University of Utah, Salt Lake City, Utah 84112, USA
Gastroenterology 128:1696-716. 2005..Finally, the ongoing work to discover new and possibly more common but less penetrant colon cancer susceptibility genes that cause common familial colon cancer will be presented...
Hereditary and familial colon cancerKory W Jasperson
Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA
Gastroenterology 138:2044-58. 2010..This review examines the colon cancer syndromes, their genetics and management, and also the common familial colon cancers with current genetic advances and screening guidelines...
A two-step model for colon adenoma initiation and progression caused by APC lossReid A Phelps
Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA
Cell 137:623-34. 2009..Consistent with this model, human FAP adenomas showed robust upregulation of CtBP1 in the absence of detectable nuclear beta-catenin, whereas nuclear beta-catenin was detected in carcinomas...
Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancerDeborah W Neklason
Department of Oncological Sciences, University of Utah, Salt Lake City, Utah, USA
J Med Genet 47:692-9. 2010..Fewer than 5% of colon cancers arise in the presence of a clear hereditary cancer condition; however, current estimates suggest that an additional 15-25% of colorectal cancers arise on the basis of unknown inherited factors...
Activating mutation in MET oncogene in familial colorectal cancerDeborah W Neklason
Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA
BMC Cancer 11:424. 2011..Familial colorectal cancer has been linked to chromosome 7q31 by multiple affected relative pair studies. The MET proto-oncogene which resides in this chromosomal region is considered a candidate for genetic susceptibility...
Parental attitudes, beliefs, and perceptions about genetic testing for FAP and colorectal cancer surveillance in minorsFallon R Levine
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA
J Genet Couns 19:269-79. 2010..Most commonly reported barriers included lack of provider recommendation (surveillance) and cost (genetic testing)...
Colonic adenoma risk in familial colorectal cancer--a study of six extended kindredsDeborah W Neklason
Huntsman Cancer Institute, Salt Lake City, Utah 84112 5550, USA
Am J Gastroenterol 103:2577-84. 2008..This issue is clinically relevant since several medical societies currently recommend earlier and more rigorous colorectal screening for individuals with a strong family history of CRC...
American founder mutation for attenuated familial adenomatous polyposisDeborah W Neklason
Department of Oncological Sciences, University of Utah, Salt Lake City, Utah 84112 5550, USA
Clin Gastroenterol Hepatol 6:46-52. 2008....
Comparison of compliance for colorectal cancer screening and surveillance by colonoscopy based on riskDavid P Taylor
Department of Biomedical Informatics, University of Utah, School of Medicine, Salt Lake City, Utah 84112 5750, USA
Genet Med 13:737-43. 2011..To compare colonoscopy screening/surveillance rates by level of risk for colorectal cancer based on age, personal history of adenomatous polyps or colorectal cancer, or family history of colorectal cancer...
Large intron 14 rearrangement in APC results in splice defect and attenuated FAPTherese M F Tuohy
Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, 84112 5550, USA
Hum Genet 127:359-69. 2010..This and similar types of intronic mutations may account for a significant proportion of FAP cases where APC clinical analysis fails because of the current limitations of testing options...
Population-based family history-specific risks for colorectal cancer: a constellation approachDavid P Taylor
Department of Biomedical Informatics, University of Utah, Salt Lake City, Utah
Gastroenterology 138:877-85. 2010..We report familial relative risk (FRR) in probands with various combinations, or constellations, of affected relatives, extending to third-degree...
Frequency of familial colon cancer and hereditary nonpolyposis colorectal cancer (Lynch syndrome) in a large population databaseRichard A Kerber
Department of Oncological Sciences, University of Utah, School of Medicine, USA
Fam Cancer 4:239-44. 2005..Less than half of a limited set of tumors from Amsterdam families were MSI positive...
Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotypeDeborah W Neklason
Department of Oncological Sciences, University of Utah, Salt Lake City, USA
Fam Cancer 3:35-40. 2004..The lack of a secondary transcript from the mutant allele suggests that incomplete exon skipping is not the molecular mechanism behind the attenuated phenotype...
How well does family history predict who will get colorectal cancer? Implications for cancer screening and counselingDavid P Taylor
Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah 84112 5750, USA
Genet Med 13:385-91. 2011..Using a large, retrospective cohort from the Utah Population Database, we assess how well family history predicts who will acquire colorectal cancer during a 20-year period...
Gonadal mosaicism and familial adenomatous polyposisAngela L Schwab
Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Room 3146, Salt Lake City, UT 84112 5550, USA
Fam Cancer 7:173-7. 2008..Parents who test negative for the mutation should be counseled about the possibility of having another affected child due to gonadal mosaicism...
Somatic mosaicism: a cause for unexplained cases of FAP?Therese M Tuohy
High Risk Cancer Clinics, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA
Gut 57:10-2. 2008
Maximum-likelihood estimation of recent shared ancestry (ERSA)Chad D Huff
Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA
Genome Res 21:768-74. 2011..ERSA greatly expands the range of relationships that can be estimated from genetic data and is implemented in a freely available software package...
A familial component to human rectal cancer, independent of colon cancer riskJohn Scott Maul
Department of Medical Oncology, University of Utah School of Medicine, Salt Lake City, Utah, USA
Clin Gastroenterol Hepatol 5:1080-4. 2007..The Utah Population Database (UPDB) is unique; it links genealogy for over 2 million Utah individuals to a statewide Cancer Registry. We have investigated the familial nature of rectal cancer, considered independently from colon cancer...
Disease-associated casein kinase I delta mutation may promote adenomatous polyps formation via a Wnt/beta-catenin independent mechanismI Chun Tsai
Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA
Int J Cancer 120:1005-12. 2007..This novel human CKIdelta mutation may alter the physiological role and enhance the transforming ability of CKIdelta through a Wnt/beta-catenin independent mechanism and thereby influence colonic adenoma development...
A population-based study of subsequent primary malignancies after endometrial cancer: genetic, environmental, and treatment-related associationsAaron P Brown
Department of Radiation Oncology, University of Utah, Salt Lake City, UT 84112, USA
Int J Radiat Oncol Biol Phys 78:127-35. 2010..To examine the risk of subsequent primary malignancies (SPMs) in women diagnosed with endometrial cancer...
Guidelines for colonoscopy surveillance after polypectomy: a consensus update by the US Multi-Society Task Force on Colorectal Cancer and the American Cancer SocietySidney J Winawer
Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA
CA Cancer J Clin 56:143-59; quiz 184-5. 2006..It has been shown that the first screening colonoscopy and polypectomy produces the greatest effects on reducing the incidence of colorectal cancer in patients with adenomatous polyps...
Adenomatous polyposis coli control of C-terminal binding protein-1 stability regulates expression of intestinal retinol dehydrogenasesLincoln D Nadauld
Department of Oncological Sciences, University of Utah, Salt Lake City, Utah 84112, USA
J Biol Chem 281:37828-35. 2006..The relationship between APC and CtBP1 is conserved between humans and zebrafish and provides a mechanistic model explaining APC control of intestinal retinoic acid biosynthesis...
Colorectal cancer surveillance behaviors among members of typical and attenuated FAP familiesAnita Y Kinney
Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112, USA
Am J Gastroenterol 102:153-62. 2007..This study examined factors associated with recent use of colorectal cancer (CRC) surveillance among FAP patients and their at-risk relatives...
Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposisKory W Jasperson
Cancer Screening and Prevention Program, City of Hope Cancer Center, Duarte, CA, USA
Fam Cancer 9:99-107. 2010..Careful attention to evolving or additional clinical features is warranted and may lead to an alternate genetic diagnosis in families with early onset CRC...
Can we identify the high-risk patients to be screened? A genetic approachAmanda Gammon
Department of Medicine, University of Utah, Salt Lake City, UT 84112 5550, USA
Digestion 76:7-19. 2007..Through this review, we hope to show that the identification of high-risk patients is possible, though sometimes difficult...
Improving colonoscopy referral rates through computer-supported, primary care practice redesignMichael K Magill
Department of Family and Preventive Medicine, University Hospital Community Clinics, University of Utah, USA
J Healthc Qual 31:43-52; quiz 52-3. 2009..This study demonstrates that a robust EMR, with decision prompts, accompanied by clinic workflow changes and feedback to providers, can lead to sustained change in the rates of colonoscopy referral...
Phenotypic characteristics and risk of cancer development in hyperplastic polyposis: case series and literature reviewAngel Ferrandez
Department of Prevention and Outreach, Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Salt Lake City, UT 84112, USA
Am J Gastroenterol 99:2012-8. 2004..Hyperplastic polyposis (HP) is a poorly understood condition. The aim of this study is to describe the phenotype and the risk of cancer in HP...
A population-based description of familial clustering of pancreatic cancerBrian H Shirts
Department of Pathology, University of Utah, Salt Lake City, Utah, USA
Clin Gastroenterol Hepatol 8:812-6. 2010..Several familial pancreatic cancer syndromes have been identified. However, the prevalence of familial pancreatic cancers in the general population has not been well defined...
Common familial colorectal cancer linked to chromosome 7q31: a genome-wide analysisDeborah W Neklason
Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112 5550, USA
Cancer Res 68:8993-7. 2008..9; P = 0.02). No known familial cancer genes reside in the 7q31 locus, and thus the identified region may contain a novel susceptibility gene responsible for common familial colorectal cancer...
Lynch syndrome screening implementation: business analysis by a healthcare systemJames M Gudgeon
Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, UT 84103, USA
Am J Manag Care 17:e288-300. 2011....
Shared genomic segment analysis: the power to find rare disease variantsStacey Knight
Division of Genetic Epidemiology, University of Utah School of Medicine, Salt Lake City, UT, USA Heart Institute, Intermountain Medical Center, Murray, UT, USA Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA
Ann Hum Genet 76:500-9. 2012..96 Mb region containing the known causal APC gene with genome-wide significance. SGS is a powerful method for detecting rare variants and a valuable complement to genome-wide association studies and linkage analysis...
Extracolonic cancers associated with hereditary nonpolyposis colorectal cancer in the Utah Population DatabaseJohn Scott Maul
Department of Cancer Outreach and Prevention, Huntsman Cancer Institute, Salt Lake City, Utah, USA
Am J Gastroenterol 101:1591-6. 2006..Although our sample size is small, this study is population based, lacks ascertainment and recall bias, and benefits from uniform, consistent diagnoses of all cancers in a statewide registry...
Abdominal desmoid in familial adenomatous polyposis presenting as a pancreatic cystic lesionLana N Pho
Department of Medicine, School of Medicine and Huntsman Cancer Institute, University of Utah, 2000 Circle of Hope, Salt Lake City, UT 84112, USA
Fam Cancer 4:135-8. 2005..This case report provides the first pathologic evidence for benign epithelial cyst formation in the pancreas caused by fibromatosis invasion of that organ as a part of FAP...
"Hot spots" can burn youJason C Wills
Department of Gastroenterology, University of Utah, Salt Lake City, USA
Am J Gastroenterol 97:757-8. 2002
Presentation of the Julius M. Friedenwald Medal to James W. Freston, MD, PhDRandall W Burt
University of Utah School of Medicine, Huntsman Cancer Institute, Salt Lake City, Utah, USA
Gastroenterology 132:2580-4. 2007
DNA demethylase activity maintains intestinal cells in an undifferentiated state following loss of APCKunal Rai
Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA
Cell 142:930-42. 2010..Wild-type APC and retinoic acid downregulate demethylase components, thereby promoting DNA methylation of key genes and helping progenitors commit to differentiation...
Colorectal cancer screeningBrad Trowbridge
Division of Gastroenterology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City 84132, USA
Surg Clin North Am 82:943-57. 2002..Currently, screening the average risk population over the age of 50 would reduce mortality from colon cancer by 50%. Future advances will likely include improved screening tests, and the development of familial genetic testing...
Guidelines for colonoscopy surveillance after polypectomy: a consensus update by the US Multi-Society Task Force on Colorectal Cancer and the American Cancer SocietySidney J Winawer
Memorial Sloan Kettering Cancer Center, New York, New York, USA
Gastroenterology 130:1872-85. 2006..It has been shown that the first screening colonoscopy and polypectomy produces the greatest effects on reducing the incidence of colorectal cancer in patients with adenomatous polyps...
Current status of genetic testing for colorectal cancer susceptibilityCindy Hoyle Solomon
Division of Gastroenterology, Huntsman Cancer Institute at the University of Utah, Salt Lake City 84112, USA
Oncology (Williston Park) 16:161-71; discussion 176, 179-80. 2002....
Guidelines for colonoscopy surveillance after cancer resection: a consensus update by the American Cancer Society and the US Multi-Society Task Force on Colorectal CancerDouglas K Rex
Indiana University School of Medicine, Indianapolis, Indiana, USA
Gastroenterology 130:1865-71. 2006....
Colorectal Cancer Screening Clinical Practice GuidelinesBernard Levin
J Natl Compr Canc Netw 4:384-420. 2006
Guidelines for colonoscopy surveillance after cancer resection: a consensus update by the American Cancer Society and US Multi-Society Task Force on Colorectal CancerDouglas K Rex
Indiana University School of Medicine, Indianapolis, IN, USA
CA Cancer J Clin 56:160-7; quiz 185-6. 2006....
Quality in the technical performance of colonoscopy and the continuous quality improvement process for colonoscopy: recommendations of the U.S. Multi-Society Task Force on Colorectal CancerDouglas K Rex
Department of Medicine/Gastroenterology, Indiana University Medical Center, Indianapolis, USA
Am J Gastroenterol 97:1296-308. 2002
Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndromeHamid Mehenni
Centre Médico Chirurgical Rond Point Plainpalais et Département de biologie cellulaire, Unité de recherche des maladies prédisposant aux cancers gastro intestinaux, Universite de Geneve, Geneve, Switzerland
Dig Dis Sci 52:1924-33. 2007....
Inherited polyposis syndromes: molecular mechanisms, clinicopathology, and genetic testingBrett W Doxey
Division of Gastroenterology, University of Utah Health Sciences Center, USA
Clin Gastroenterol Hepatol 3:633-41. 2005..There are many issues accompanying molecular diagnosis of cancer syndromes, and genetic counseling is an essential prelude to genetic testing...
Research Grants
- EFFECTS OF ENVIRONMENT AND INHERITANCE ON COLONIC POLYPSRandall Burt; Fiscal Year: 1993..The investigation is significant because it provides the first opportunity to study the effects of environmental risk factors on the development of adenomatous polyps in the setting where individual genetic susceptibility is known...
- HIGH RISK FAMILIAL COLON CANCER--GENETICS AND PHENOTYPERandall Burt; Fiscal Year: 2001....
- INCREASING COLORECTAL CANCER SCREENINGRandall Burt; Fiscal Year: 2005..abstract_text> ..
- HIGH RISK FAMILIAL COLON CANCER- GENETICS AND PHENOTYPERandall Burt; Fiscal Year: 2007....
- INHERITANCE OF DISCRETE COLORECTAL ADENOMATOUS POLYPSRandall Burt; Fiscal Year: 1990..The population characterized by this study will also provide the basis for DNA marker linkage studies, subsequent studies of gene-environment interactions, and studies of molecular mechanisms of cancer...
- MOLECULAR/CLINICAL APPROACHES TO COLON CANCER PRECURSORSRandall Burt; Fiscal Year: 2007..abstract_text> ..
