Research Topics
Genomes and Genes
| Wade S SamowitzSummaryAffiliation: University of Utah Country: USA Publications
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Detail Information
Publications
BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphismsW S Samowitz
Department of Pathology, Oncological Sciences, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
Am J Pathol 154:1637-41. 1999..Polymorphisms in these microsatellites, however, limit their utility in determinations of microsatellite instability without corresponding normal DNA...
Prognostic significance of p53 mutations in colon cancer at the population levelWade S Samowitz
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
Int J Cancer 99:597-602. 2002..However, specific classes of mutations, namely, the G245 hot spot mutation and mutations in proximal tumors, are related to significantly worse survival even after adjusting for age and stage...
The colon cancer burden of genetically defined hereditary nonpolyposis colon cancerW S Samowitz
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
Gastroenterology 121:830-8. 2001..We therefore determined by genetic criteria the colon cancer burden associated with HNPCC in a population-based study of 1066 individuals from Utah and California...
Microsatellite instability in sporadic colon cancer is associated with an improved prognosis at the population levelW S Samowitz
Departments of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
Cancer Epidemiol Biomarkers Prev 10:917-23. 2001..We conclude that microsatellite instability in sporadic colon cancer is associated with an improved prognosis at the population level...
Inverse relationship between microsatellite instability and K-ras and p53 gene alterations in colon cancerW S Samowitz
Department of Pathology, University of Utah Health Sciences Center, 50 North Medical Dr, Salt Lake City, UT 84132, USA
Am J Pathol 158:1517-24. 2001....
Prognostic implications of BAX and TGFBRII mutations in colon cancers with microsatellite instabilityWade S Samowitz
Department of Pathology, University of Utah, Salt Lake City, Utah 84132, USA
Genes Chromosomes Cancer 35:368-71. 2002..We conclude that instability-induced mutations in BAX or TGFBRII do not have a significant impact on the good prognosis of colon cancers with microsatellite instability...
Assessing tumor mutations to gain insight into base excision repair sequence polymorphisms and smoking in colon cancerKaren Curtin
Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, 84132, USA
Cancer Epidemiol Biomarkers Prev 18:3384-8. 2009..02-1.9). These findings point to the importance of studying tumor mutations when examining DNA repair polymorphisms and cigarette smoke exposure to identify potentially relevant associations with colorectal cancer...
The MLH1 -93 G>A promoter polymorphism and genetic and epigenetic alterations in colon cancerWade S Samowitz
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
Genes Chromosomes Cancer 47:835-44. 2008....
Microsatellite instability and survival in rectal cancerWade S Samowitz
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
Cancer Causes Control 20:1763-8. 2009..Very few studies have evaluated the effect of MSI-H on rectal cancer survival. We assessed MSI-H and other genetic and epigenetic changes on survival of 990 individuals diagnosed with first primary rectal cancer...
Somatic alterations, metabolizing genes and smoking in rectal cancerKaren Curtin
Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
Int J Cancer 125:158-64. 2009..ETS may increase risk of KRAS2 mutations; association with TP53 mutations and ETS may be influenced by NAT2...
Nutrients in folate-mediated, one-carbon metabolism and the risk of rectal tumors in men and womenKaren Curtin
Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
Nutr Cancer 63:357-66. 2011....
Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathwaysMartha L Slattery
Department of Medicine, University of Utah, Salt Lake City, UT 84108, USA
Mutat Res 660:12-21. 2009..The important modifying effects of aspirin/NSAIDs on associations with genetic polymorphisms reinforce the underlying role of inflammation in the etiology of colon cancer...
Oncogenetic tree model of somatic mutations and DNA methylation in colon tumorsCarol Sweeney
Health Sciences Center, University of Utah, Salt Lake City, UT, USA
Genes Chromosomes Cancer 48:1-9. 2009..The oncogenetic tree model assumptions are appropriate for the observed heterogeneity of colon tumors, and the model produces a useful visual schematic of the sequence of events in pathways of colon carcinogenesis...
Genetic polymorphisms in one-carbon metabolism: associations with CpG island methylator phenotype (CIMP) in colon cancer and the modifying effects of dietKaren Curtin
Department of Internal Medicine, University of Utah Health Sciences Center, 375 Chipeta Way, Suite A, Salt Lake City, UT 84108, USA
Carcinogenesis 28:1672-9. 2007..1, 95% CI = 1.3-3.4 versus AA/high risk; P-interaction = 0.03). These results provide only limited support for a role of polymorphisms in one-carbon metabolism in the etiology of CIMP colon cancer...
Evaluation of a large, population-based sample supports a CpG island methylator phenotype in colon cancerWade S Samowitz
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
Gastroenterology 129:837-45. 2005..However, the presence or absence of microsatellite instability has a major effect on the expression of this phenotype...
Diet and lifestyle factor associations with CpG island methylator phenotype and BRAF mutations in colon cancerMartha L Slattery
Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, UT 84108, USA
Int J Cancer 120:656-63. 2007..Our data suggest multiple pathways to colon cancer. They do not support a unique role for dietary folate, alcohol, vitamins B(6) and B(12) and methionine in a CpG island methylator phenotype...
Interactions between CYP2C9 and UGT1A6 polymorphisms and nonsteroidal anti-inflammatory drugs in colorectal cancer preventionWade S Samowitz
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
Clin Gastroenterol Hepatol 4:894-901. 2006....
MSH6 G39E polymorphism and CpG island methylator phenotype in colon cancerKaren Curtin
Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
Mol Carcinog 48:989-94. 2009..Age at diagnosis, family history, and alcohol use did not interact with MSH6 G39E and CIMP. The MSH6 G39E germline polymorphism may be associated with CIMP+ colon cancer...
Association of smoking, CpG island methylator phenotype, and V600E BRAF mutations in colon cancerWade S Samowitz
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
J Natl Cancer Inst 98:1731-8. 2006..We investigated whether the association between smoking and all colon cancers could be explained through induction of CIMP and/or BRAF mutations...
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...
Genetic variation in C-reactive protein in relation to colon and rectal cancer risk and survivalMartha L Slattery
Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, UT 84108, USA
Int J Cancer 128:2726-34. 2011..These data suggest that genetic variation in the CRP gene influences risk of both colon and rectal cancer development...
Quantitative evaluation of CpG island methylation in hyperplastic polypsCecily P Vaughn
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
Mod Pathol 23:151-6. 2010..If these polyps are the precursor for sporadic microsatellite unstable cancers, then MLH1 methylation and higher degrees of promoter methylation in general occur at a later stage of carcinogenesis...
Thymidylate synthase polymorphisms and colon cancer: associations with tumor stage, tumor characteristics and survivalKaren Curtin
Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, UT, USA
Int J Cancer 120:2226-32. 2007..This study provides some support for associations between TS genotype and colon cancer tumor characteristics...
p53 alterations in colon tumors: a comparison of SSCP/sequencing and immunohistochemistryKaren Curtin
Health Research Center, Department of Family and Preventive Medicine, University of Utah, Salt Lake City, UT 84108, USA
Appl Immunohistochem Mol Morphol 12:380-6. 2004..Advantages gained by sequencing are its ability to examine specific mutations and the improved ability to discriminate between cases with p 53 mutation and wild type when evaluating associations...
Polymorphisms in insulin-related genes predispose to specific KRAS2 and TP53 mutations in colon cancerWade S Samowitz
Department of Pathology, University of Utah, Salt Lake City, UT 84108, USA
Mutat Res 595:117-24. 2006....
APC mutations and other genetic and epigenetic changes in colon cancerWade S Samowitz
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
Mol Cancer Res 5:165-70. 2007..The relationships of APC mutations to other genetic and epigenetic alterations add to the already impressive genetic heterogeneity of colon cancer...
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...
Confirmation of single exon deletions in MLH1 and MSH2 using quantitative polymerase chain reactionCecily P Vaughn
ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA
J Mol Diagn 10:355-60. 2008..Single exon deletions in MLH1 and MSH2 can be verified using quantitative PCR. Assays using this method are simple to design and easy to perform, making them ideal for confirmatory testing...
Genetic and epigenetic changes in colon cancerWade S Samowitz
Department of Pathology, University of Utah, Salt Lake City, UT 84112, USA
Exp Mol Pathol 85:64-7. 2008..In addition, recent data on APC gene mutations challenges the existing paradigm for colon cancer carcinogenesis and precursor lesions, which may in turn have clinical implications for cancer prevention...
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...
Frequency of KRAS, BRAF, and NRAS mutations in colorectal cancerCecily P Vaughn
ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA
Genes Chromosomes Cancer 50:307-12. 2011....
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenesCecily P Vaughn
ARUP Institute for Clinical and Experimental Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84108, USA
Hum Mutat 31:588-93. 2010..Our data also support the use of IHC screening to direct germline testing of PMS2...
Septin 9 methylated DNA is a sensitive and specific blood test for colorectal cancerJorja D Warren
New Technology Group, ARUP Laboratories, Inc, 500 Chipeta Way, Mail Code 209, Salt Lake City, UT 84108 1221, USA
BMC Med 9:133. 2011..The objective of this study is to demonstrate the performance of an improved sensitivity blood-based Septin 9 (SEPT9) methylated DNA test for colorectal cancer. Study variables include clinical stage, tumor location and histologic grade...
A PIK3CA pyrosequencing-based assay that excludes pseudogene interferenceChristine L Baker
ARUP Institute for Clinical and Experimental Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84108, USA
J Mol Diagn 14:56-60. 2012..Thus, we have developed a PIK3CA pyrosequencing assay capable of detecting mutations in all three positions in the three hot spot codons with no pseudogene interference...
Poor survival associated with the BRAF V600E mutation in microsatellite-stable colon cancersWade S Samowitz
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City 84132, USA
Cancer Res 65:6063-9. 2005....
Interactions of peroxisome proliferator-activated receptor {gamma} and diet in etiology of colorectal cancerMaureen A Murtaugh
Health Research Center, Department of Family and Preventive Medicine, University of Utah, Suite A, 375 Chipeta Way, Salt Lake City, UT 84101, USA
Cancer Epidemiol Biomarkers Prev 14:1224-9. 2005....
Genetic admixture among Hispanics and candidate gene polymorphisms: potential for confounding in a breast cancer study?Carol Sweeney
Department of Internal Medicine Health Research Center, University of Utah, Salt Lake City, Utah, USA
Cancer Epidemiol Biomarkers Prev 16:142-50. 2007..CRRs from simulated scenarios indicated that appreciable confounding by admixture would occur only when within-group candidate SNP allele frequency differences are much larger than any that we observed...
The CpG island methylator phenotype in colorectal cancerWade S Samowitz
University of Utah Health Sciences Center, Department of Pathology, Salt Lake City, UT 84132, USA
J Mol Diagn 9:281-3. 2007
Microsatellite instability and colorectal cancerKatherine B Geiersbach
Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84108, USA
Arch Pathol Lab Med 135:1269-77. 2011..Identification of individuals with Lynch syndrome allows for increased surveillance of the affected individual and of potentially affected family members...
Uncommon TGFBRI allele is not associated with increased susceptibility to colon cancerW S Samowitz
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
Genes Chromosomes Cancer 32:381-3. 2001..We conclude that the 6A TGFBRI allele is not associated with an increased susceptibility to colon cancer at the population level, and that the 6A/6A homozygote is not restricted to individuals with some form of cancer...
Estrogens reduce and withdrawal of estrogens increase risk of microsatellite instability-positive colon cancerM L Slattery
Health Research Center, Department of Family and Preventive Medicine, University of Utah, Salt Lake City 84108, USA
Cancer Res 61:126-30. 2001..HRT in these older women may, again, reduce the risk of unstable tumors. A model for the way in which estrogens (endogenous, exogenous, and obesity-associated) modify the risk of MSI+ tumors is proposed...
Associations between cigarette smoking, lifestyle factors, and microsatellite instability in colon tumorsM L Slattery
Health Research Center, Department of Family and Preventive Medicine, University of Utah, Salt Lake City, USA
J Natl Cancer Inst 92:1831-6. 2000..It is unknown whether lifestyle factors associated with colon cancer, such as physical activity, body size, cigarette smoking, or use of aspirin and/or nonsteroidal anti-inflammatory drugs, contribute to MSI in sporadic tumors...
An evidence-based, multidisciplinary approach to the clinical considerations, management, and surveillance of adrenal lesions in familial adenomatous polyposis: report of three casesAngel Ferrandez
Department of Outreach and Prevention, Huntsman Cancer Institute, Salt Lake City, Utah, USA
Dis Colon Rectum 49:1781-90. 2006....
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...
CpG island methylation in colorectal cancer: past, present and futureKaren Curtin
Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA
Patholog Res Int 2011:902674. 2011....
Epidermal growth factor receptor pathway mutations and colorectal cancer therapyAllie H Grossmann
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84108, USA
Arch Pathol Lab Med 135:1278-82. 2011..This is true for colorectal cancer in which mutations in signaling mediators predict resistance to anti-epidermal growth factor receptor (anti-EGFR) therapy...
Conditional deletion of beta1 integrins in the intestinal epithelium causes a loss of Hedgehog expression, intestinal hyperplasia, and early postnatal lethalityRobert G Jones
Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA
J Cell Biol 175:505-14. 2006..This study shows that beta1 integrins are key regulators of proliferation and homeostasis in the intestine and achieve this not through anchorage-dependent effects but by generating Hh expression and signaling...
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....
DNA methylation in breast and colorectal cancersWade S Samowitz
Mod Pathol 21:1054; author reply 1054-5. 2008
Missense mismatch repair gene alterations, microsatellite instability, and hereditary nonpolyposis colorectal cancerWade S Samowitz
J Clin Oncol 20:3178; author reply 3178-9. 2002
PCR versus immunohistochemistry for microsatellite instabilityWade S Samowitz
J Mol Diagn 10:181-2; author reply 181. 2008
Hyperplastic-like colon polyps preceding microsatellite-unstable adenocarcinomasWade S Samowitz
Am J Clin Pathol 120:633; author reply 634. 2003
