Research Topics
Genomes and Genes
| adenomatous polyposis coliSummarySummary: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. The lifetime risk of colorectal cancer in these patients reaches 100 percent by age 60. Top Publications
Research Grants
| Scientific Experts
|
Detail Information
Publications
Mutations of chromosome 5q21 genes in FAP and colorectal cancer patientsI Nishisho
Department of Biochemistry, Cancer Institute, Tokyo, Japan
Science 253:665-9. 1991..The identification of these genes should aid in understanding the pathogenesis of colorectal neoplasia and in the diagnosis and counseling of patients with inherited predispositions to colorectal cancer...
New perspectives on APC control of cell fate and proliferation in colorectal cancerReid A Phelps
Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA
Cell Cycle 8:2549-56. 2009Aberrant Wnt/beta-catenin signaling following loss of the tumor suppressor adenomatous polyposis coli (APC) is thought to initiate colon adenoma formation...
Disease model: familial adenomatous polyposisR Fodde
Dept of Human and Clinical Genetics, Leiden University Medical Center, Sylvius Laboratories, Wassenaarseweg 72, 2333 AL, Leiden, The Netherlands
Trends Mol Med 7:369-73. 2001..Also, the close phenotypic resemblance to the human disease makes these mice unique preclinical models to test chemopreventive and therapeutic interventions...
Risk of developing adenomas and carcinomas in the ileal pouch in patients with familial adenomatous polyposisPieter Friederich
Department of Gastroenterology and Hepatology, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands
Clin Gastroenterol Hepatol 6:1237-42. 2008..The aim of this study was to evaluate the long-term risk of developing adenomas and carcinomas in the pouch in a large cohort of Dutch FAP patients...
Aggressive fibromatosis (desmoid tumor) is derived from mesenchymal progenitor cellsColleen Wu
Program in Developmental and Stem Cell Biology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Cancer Res 70:7690-8. 2010..Protecting this progenitor cell population might prevent tumor formation in patients harboring a germline APC mutation, where fibromatosis is currently the leading cause of mortality...
Wnt signaling regulates expression of the receptor tyrosine kinase met in colorectal cancerElles M J Boon
Department of Pathology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
Cancer Res 62:5126-8. 2002..This suggests a link with disruption of adenomatous polyposis coli-controlled regulation of beta-catenin/T-cell factor (TCF)-mediated transcriptional activation, which is ..
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. 2009Aberrant Wnt/beta-catenin signaling following loss of the tumor suppressor adenomatous polyposis coli (APC) is thought to initiate colon adenoma formation...
Prevalence of adenomas and carcinomas in the ileal pouch after proctocolectomy in patients with familial adenomatous polyposisMasahiro Tajika
Department of Endoscopy, Aichi Cancer Center Hospital, 1 1 Kanokoden, Chikusa ku, Nagoya, 464 8681, Japan
J Gastrointest Surg 13:1266-73. 2009..Our aim was to evaluate the prevalence, nature, and etiology of ileal pouch and nonpouch adenomas and carcinoma in patients with FAP...
Vitamin D receptor ligands, adenomatous polyposis coli, and the vitamin D receptor FokI polymorphism collectively modulate beta-catenin activity in colon cancer cellsJan B Egan
Arizona Cancer Center, University of Arizona, Tucson, Arizona, USA
Mol Carcinog 49:337-52. 2010..Collectively, these findings strengthen evidence favoring a direct effect on the Wnt-signaling molecule beta-catenin as one anti-cancer target of 1,25D-VDR action in the colorectum...
Leiden Open Variation Database of the MUTYH geneAstrid A Out
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Hum Mutat 31:1205-15. 2010..This open-access repository allows all involved to quickly share all variants encountered and communicate potential consequences, which will be especially useful to classify variants of uncertain significance...
A 10-year review of surgery for desmoid disease associated with familial adenomatous polyposisA R Latchford
Polyposis Registry, St Mark's Hospital, Northwick Park, Harrow HA1 3UJ, UK
Br J Surg 93:1258-64. 2006..CONCLUSION: Surgery for intra-abdominal desmoids in selected patients is less hazardous than previously reported. Surgery for abdominal wall and extra-abdominal tumours is safe. However, disease recurrence remains a major problem...
Molecular mechanisms of beta-catenin recognition by adenomatous polyposis coli revealed by the structure of an APC-beta-catenin complexK Eklof Spink
Departments of Structural Biology and of Molecular and Cellular Physiology, Stanford University School of Medicine, 299 Campus Dr West Stanford, CA 94305, USA
EMBO J 20:6203-12. 2001The adenomatous polyposis coli (APC) tumor suppressor protein plays a critical role in regulating cellular levels of the oncogene product beta-catenin. APC binds to beta-catenin through a series of homologous 15 and 20 amino acid repeats...
Effects of a glycogen synthase kinase-3 inhibitor, lithium, in adenomatous polyposis coli mutant miceTodd D Gould
Laboratory of Molecular Pathophysiology, National Institutes of Mental Health, 49 Convent Drive, Room B1EE16, Bethesda, MD 20892, USA
Pharmacol Res 48:49-53. 2003..in a murine model predisposed to the formation of tumors due to activation of the Wnt pathway-the adenomatous polyposis coli (APC) multiple intestinal neoplasia (min) mouse...
Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneousElise T Renkonen
Department of Medical Genetics, Institute of Dentistry, Biomedicum Helsinki, PO Box 63 (Haartmaninkatu 8, FIN-00014 University of Helsinki, Helsinki, Finland
J Clin Oncol 23:5651-9. 2005..Significant differences were observed in clinical manifestations between subgroups, emphasizing the importance of accurate genetic and clinical characterization for the proper management of such families...
Identification of a novel putative gastrointestinal stem cell and adenoma stem cell marker, doublecortin and CaM kinase-like-1, following radiation injury and in adenomatous polyposis coli/multiple intestinal neoplasia miceRandal May
Department of Medicine, University of Oklahoma Health Sciences Center, 920 Stanton L Young Boulevard, WP 1360, Oklahoma City, Oklahoma 73104, USA
Stem Cells 26:630-7. 2008..doublecortin and CaM kinase-like-1 (DCAMKL-1) to examine radiation-induced stem cell apoptosis and adenomatous polyposis coli (APC)/multiple intestinal neoplasia (min) mice to determine the effects of APC mutation on DCAMKL-1 ..
Possible involvement of hyperlipidemia in increasing risk of colorectal tumor development in human familial adenomatous polyposisMichihiro Mutoh
Cancer Prevention Basic Research Project, National Cancer Center Research Institute, Chuo Ku, Tokyo 104 0045, Japan
Jpn J Clin Oncol 36:166-71. 2006Familial adenomatous polyposis (FAP) results from germline adenomatous polyposis coli (APC) gene mutations and many affected patients die from colorectal cancers which arise from colorectal polyps...
Enhanced stem cell survival in familial adenomatous polyposisKyoung-Mee Kim
Department of Pathology, University of Southern California Keck School of Medicine, Los Angeles, CA 90033, USA
Am J Pathol 164:1369-77. 2004Individuals with heterozygous germline adenomatous polyposis coli (APC) mutations or familial adenomatous polyposis (FAP) are born with normal appearing colons but later develop hundreds to thousands of polyps...
Gastrointestinal stem cells and cancer: bridging the molecular gapS J Leedham
Histopathology Unit, Cancer Research UK, 44 Lincoln s Inn Fields, London WC2A 3PX, UK
Stem Cell Rev 1:233-41. 2005..mutation involved in this stepwise progression is in the "gatekeeper" tumor suppressor gene adenomatous polyposis coli (APC)...
Sulindac treatment alters collagen and matrilysin expression in adenomas of ApcMin/+ miceHector Guillen-Ahlers
W M Keck Center for Transgene Research, University of Notre Dame, Notre Dame, IN 46556, USA
Carcinogenesis 29:1421-7. 2008....
Allele-specific expression of APC in adenomatous polyposis familiesEster Castellsagué
Translational Research Laboratory, Institut d Investigacions Biomédiques de Bellvitge Institut Català d Oncologia, Barcelona, Spain
Gastroenterology 139:439-47, 447.e1. 2010..Here, we analyzed the prevalence of imbalances in the allelic expression of APC in polyposis families with germline mutations in the gene and without detectable mutations in APC and/or MUTYH...
Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative familiesJordi Romero-Gimenez
Molecular Oncology Group, Molecular Biology and Biochemistry Research Center CIBBIM, Nanomedicine Research Program, Vall d Hebron Hospital Research Institute, Barcelona, Spain
Int J Cancer 122:1422-5. 2008..Inheritance of a mutant allele of the adenomatous polyposis coli (APC) gene is the cause of approximately 80% of FAP and 20-30% of an attenuated form of FAP (AFAP), ..
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature reviewAstrid Kaufmann
Institute of Human Genetics, Bonn, Germany
J Mol Diagn 11:131-9. 2009..Our study shows that the characterization of rare variants at the mRNA level is crucial for the evaluation of pathogenicity and underlying mutational mechanisms, and could lead to better treatment modalities...
Nonsteroidal anti-inflammatory drugs as anticancer agents: mechanistic, pharmacologic, and clinical issuesMichael J Thun
Department of Epidemiology and Surveillance Research, American Cancer Society, National Home Office, Atlanta, GA 30329 4251, USA
J Natl Cancer Inst 94:252-66. 2002..normal apoptosis in human adenomatous colorectal polyps and in various cancer cell lines that have lost adenomatous polyposis coli gene function. NSAIDs also inhibit angiogenesis in cell culture and rodent models of angiogenesis...
Somatic mutations in familial adenomatous polyps. Nuclear translocation of beta-catenin requires more than biallelic APC inactivationHendrik Blaker
Department of Pathology, Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 220 221, 69120 Heidelberg, Germany
Am J Clin Pathol 120:418-23. 2003Germline mutations of the APC gene cause familial adenomatous polyposis coli (FAP). APC inactivation results in dysregulation of wnt/wingless signaling and contributes to chromosomal instability in vitro...
Surveillance and treatment of duodenal adenomatosis in familial adenomatous polyposisA Lepisto
Department of Surgery, Helsinki University Central Hospital, Finland
Endoscopy 41:504-9. 2009..We analyzed the results of endoscopic surveillance and different treatment modalities of duodenal adenomatosis in patients with FAP...
Evaluation of dHPLC in mutation screening of the APC gene in a Greek FAP cohortMarkos Mihalatos
Molecular Biology Research Center HYGEIA, Antonis Papayiannis, Kifissias Ave. and Erythrou Stavrou 4 Str, 15123 Maroussi, Athens, Greece
Anticancer Res 23:2691-5. 2003..All 14 mutations identified by sequencing were also detected using dHPLC. Sequence analysis of a large family confirmed the dHPLC results. CONCLUSION: Using dHPLC we detected all mutations previously identified by sequencing...
Truncation mutations abolish chromatin-associated activities of adenomatous polyposis coliA P Kouzmenko
Department of Nuclear Signaling, Institute of Molecular and Cellular Biosciences, University of Tokyo, Bunkyo ku, Tokyo, Japan
Oncogene 27:4888-99. 2008The adenomatous polyposis coli (APC) is a tumor suppressor whose loss of function leads to colon cancer. APC shuttles between the nucleus and cytoplasm, however its role in the nucleus remains elusive...
Prevention and management of duodenal polyps in familial adenomatous polyposisL A A Brosens
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Gut 54:1034-43. 2005
Dysregulation of integrin-linked kinase (ILK) signaling in colonic polyposisA Marotta
Jack Bell Research Center, 2660 Oak Street, Vancouver, BC, Canada V6H 3Z6
Oncogene 20:6250-7. 2001Mutation of the adenomatous polyposis coli (APC) gene and the subsequent dysregulation of beta-catenin are well-documented abnormalities in familial adenomatous polyposis (FAP), as well as sporadic polyposis...
Effect of dietary inulin supplementation on inflammation of pouch mucosa in patients with an ileal pouch-anal anastomosisCarlo F M Welters
Department of Surgery, University Hospital Maastricht, The Netherlands
Dis Colon Rectum 45:621-7. 2002..CONCLUSION: Enteral inulin supplementation leads to a decrease of inflammation-associated factors and to a reduction of inflammation of pouch mucosa...
Features of duodenal cancer in patients with familial adenomatous polyposisAndrew R Latchford
Polyposis Registry, St Mark s Hospital, Harrow, United Kingdom
Clin Gastroenterol Hepatol 7:659-63. 2009..We reviewed cases of duodenal cancer in patients with FAP to identify factors that determine long-term cancer risk...
Analysis of K-ras, APC, and beta-catenin in aberrant crypt foci in sporadic adenoma, cancer, and familial adenomatous polyposisT Takayama
Fourth Department of Internal Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan
Gastroenterology 121:599-611. 2001..In FAP, however, somatic mutation of APC predominantly occurs during ACF formation, followed by K-ras mutation...
Molecular analysis of sulindac-resistant adenomas in familial adenomatous polyposisJ J Keller
Department of Pathology, Academic Medical Center, 1100 DD Amsterdam, The Netherlands
Clin Cancer Res 7:4000-7. 2001..Therefore, we investigated molecular alterations in adenomas from FAP patients with complete adenoma regression on sulindac (responsive patients) and from FAP patients with sulindac-resistant adenomas (resistant patients)...
[Follow-up after surgical treatment of patients with familial adenomatous polyposis: results in a southern Spanish population]C Cordero Fernández
Servicio de Aparato Digestivo, Hospital Universitario Virgen del Rocio, Sevilla, Spain
Rev Esp Enferm Dig 99:440-5. 2007....
Functional outcome and quality of life after restorative proctocolectomy and ileo-anal pouch anastomosisPhilippe Wuthrich
Service de Chirurgie Viscerale, Hopital Universitaire de Geneve, Switzerland
Swiss Med Wkly 139:193-7. 2009..The aim of our study was to evaluate the functional results of this procedure and to assess its impact upon patient quality of life (QoL)...
The influence of mutation site and age on the severity of duodenal polyposis in patients with familial adenomatous polyposisJean Christophe Saurin
Fédération des spécialités digestives, Laboratoire de Genetique, Hopital E Herriot, 5 Place d Arsonval, 64937 Lyon Cedex 03, France
Gastrointest Endosc 55:342-7. 2002..The present study was undertaken to identify factors affecting the severity of the duodenojejunal polyposis in patients with familial adenomatous polyposis...
Influence of age on adenomatous polyposis coli and p53 mutation frequency in sporadic colorectal cancer-rarity of co-occurrence of mutations in APC, K-ras, and p53 genesJy Ming Chiang
Division of Colon and Rectal Surgery, Chang Gung Memorial Hospital, 5 Fu Hsing St, Kuei Shan, Tao Yuan, Taiwan
Virchows Arch 445:465-71. 2004..Therefore, the influence of age on these mutation frequencies remains unclear, despite age being considered a risk factor for genetic mutation...
Beta-catenin degradation mediated by the CID domain of APC provides a model for the selection of APC mutations in colorectal, desmoid and duodenal tumoursEva Maria Kohler
Nikolaus Fiebiger Center for Molecular Medicine, University Erlangen Nurnberg, Glückstrasse 6, 91054 Erlangen, Germany
Hum Mol Genet 18:213-26. 2009Biallelic mutation of the ADENOMATOUS POLYPOSIS COLI (APC) gene is a hallmark of sporadic colorectal cancer and colorectal, duodenal and desmoid tumours that develop in familial adenomatous polyposis (FAP) patients...
Spontaneous regression of rectal polyps following abdominal colectomy and ileorectal anastomosis for familial adenomatous polyposis, without sulindac treatment: report of four casesG M Filippakis
Surgical Department A, Hippocration General Hospital, Athens, Greece
Endoscopy 39:665-8. 2007..We present the cases of four patients with FAP treated by colectomy and ileorectal anastomosis, who had immediate, complete spontaneous regression of multiple polyps in the rectal stump, with no further need for sulindac treatment...
Increased epithelial cell proliferation in the ileal pouch mucosa of patients with familial adenomatous polyposisP Friederich
Department of Gastrointestinal and Liver Diseases, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
Virchows Arch 451:659-67. 2007....
Quality of life after ileal pouch-anal anastomosis and ileorectal anastomosis in patients with familial adenomatous polyposisImran Hassan
Division of Colon and Rectal Surgery, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA
Dis Colon Rectum 48:2032-7. 2005....
Hereditary colorectal cancer: MYH-associated polyposis and other newly identified disordersNoralane M Lindor
Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Best Pract Res Clin Gastroenterol 23:75-87. 2009..Knowledge of these entities may assist clinicians to recognize and manage cases that do not fit into the more common syndromes of colorectal cancer predisposition...
Adenomatous polyposis coli-mediated hypersensitivity of mouse embryonic fibroblast cell lines to methylmethane sulfonate treatment: implication of base excision repair pathwaysChanakya N Kundu
Department of Anatomy and Cell Biology and UF Shands Cancer Center, University of Florida, Gainesville, FL 32610, USA
Carcinogenesis 28:2089-95. 2007The role of adenomatous polyposis coli (APC) has been implicated in various cellular functions including cell migration, cell-cell adhesion, cell cycle control, chromosomal segregation and apoptosis...
Relative role of APC and MUTYH mutations in the pathogenesis of familial adenomatous polyposisAnnalisa Pezzi
Department of Internal Medicine, University of Modena and Reggio Emilia, Modena, Italy
Scand J Gastroenterol 44:1092-100. 2009..The objective of this study was to evaluate the contribution of the two genes to the pathogenesis of FAP by means of a series of FAP families...
Mutations of the APC (adenomatous polyposis coli) geneH Nagase
Department of Biochemistry, Cancer Institute, Tokyo, Japan
Hum Mutat 2:425-34. 1993..Furthermore, inactivation of both alleles of the APC gene seems to be required as an early event to develop most of adenomas and carcinomas in the colon and rectum as well as some of those in the stomach...
Long-term outcome of metachronous rectal cancer following ileorectal anastomosis for familial adenomatous polyposisTomohiro Yamaguchi
Colorectal Surgery Division, National Cancer Center Hospital, Chuo Ku, Tokyo, Japan
J Gastrointest Surg 14:500-5. 2010..Total colectomy with ileorectal anastomosis (IRA) for familial adenomatous polyposis (FAP) carries a potential risk of metachronous cancer in the residual rectum. This study evaluated the risk of cancer development in the residual rectum...
R-flurbiprofen chemoprevention and treatment of intestinal adenomas in the APC(Min)/+ mouse model: implications for prophylaxis and treatment of colon cancerW J Wechter
Laboratory of Chemical Endocrinology, Loma Linda University School of Medicine, California 92350, USA
Cancer Res 57:4316-24. 1997..i.d.. Both drug-treated groups demonstrated tumor numbers significantly less than that of the vehicle control (P < 0.01). Our results suggest that prophylaxis and treatment trials of R-FB should be extended to humans...
MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversionsJeremie H Lefevre
Department of Digestive Surgery, Hopital Saint Antoine AP HP, University Pierre et Marie Curie Paris VI, 184 rue du Faubourg Saint Antoine, 75571 Paris, France
Fam Cancer 9:589-94. 2010..588 + 5G > T) leading to a complete deletion of exon 7 at the RNA level. This observation demonstrates that MLH1 can be a target of MYH transversions leading to MSI phenotype...
The third 20 amino acid repeat is the tightest binding site of APC for beta-cateninJing Liu
Department of Biological Structure, University of Washington, Seattle, WA 98195, USA
J Mol Biol 360:133-44. 2006b>Adenomatous polyposis coli (APC) plays a critical role in the Wnt signaling pathway by tightly regulating beta-catenin turnover and localization...
Balance between endoscopic and genetic information in the choice of ileorectal anastomosis for familial adenomatous polyposisRosa Valanzano
Dipartimento di Fisiopatologia Clinica, Unità di Chirurgia, Universita degli Studi di Firenze, Firenze, Italy
J Surg Oncol 95:28-33. 2007The number of rectal polyps and the site of mutations in the APC (Adenomatous polyposis coli) gene have been used to guide the surgical management in patients with familial adenomatous polyposis (FAP)...
Long-term treatment with sulindac in familial adenomatous polyposis: is there an actual efficacy in prevention of rectal cancer?F Tonelli
Department of Clinical Physiopathology, Surgical Unit, University of Florence, Italy
J Surg Oncol 74:15-20. 2000..Sulindac appears to induce regression of colorectal adenomas; however, its effects in long-term therapy and in preventing carcinoma remain unclear...
[Preventive surgery for familial adenomatous polyposis coli]M Kadmon
Abteilung Allgemein, Visceral und Unfallchirurgie, Chirurgische Universitatsklinik Heidelberg
Chirurg 76:1125-34. 2005Familial adenomatous polyposis coli (FAP) may not be considered a single disease entity with standardized guidelines for operative treatment...
Alternative splicing and nonsense-mediated mRNA decay in the regulation of a new adenomatous polyposis coli transcriptMarina De Rosa
Dipartimento di Biochimica e Biotecnologie Mediche and CEINGE Biotecnologie Avanzate, Universita di Napoli Federico II, Via S Pansini 5, 80131 Napoli, Italy
Gene 395:8-14. 2007Familial adenomatous polyposis (FAP) is a rare precancerous condition caused by mutations in the adenomatous polyposis coli (apc) gene...
Decreased levels of mucosal detoxification enzymes in the pouch of patients with familial adenomatous polyposisP Friederich
Department of Gastroenterology, Radboud University Medical Centre, Nijmegen, The Netherlands
Br J Surg 93:1108-14. 2006..CONCLUSION: After IPAA, GST detoxification activity in the pouch is significantly lower than that in the afferent ileal loop, which may promote tumorigenesis...
Decision analysis in the surgical treatment of patients with familial adenomatous polyposis: a Dutch-Scandinavian collaborative study including 659 patientsH F Vasen
The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands
Gut 49:231-5. 2001....
Adenomatous polyposis coli and hypoxia-inducible factor-1{alpha} have an antagonistic connectionIan P Newton
Division of Cell and Developmental Biology, College of Life Sciences, University of Dundee, Dundee DD1 5EH, Scotland, United Kingdom
Mol Biol Cell 21:3630-8. 2010The tumor suppressor adenomatous polyposis coli (APC) is mutated in the majority of colorectal cancers and is best known for its role as a scaffold in a Wnt-regulated protein complex that determines the availability of β-catenin...
Linking colorectal cancer to Wnt signalingM Bienz
MRC Laboratory of Molecular Biology, Cambridge, United Kingdom
Cell 103:311-20. 2000
Thyroid carcinoma usually occurs in patients with familial adenomatous polyposis in the absence of biallelic inactivation of the adenomatous polyposis coli geneF Cetta
Interuniversity Center for Research in Hepatobiliary Disease, Institute of Surgical Clinics, University of Siena, 53100 Siena, Italy
J Clin Endocrinol Metab 86:427-32. 2001..extracolonic manifestation of familial adenomatous polyposis, determined by germline mutations of the adenomatous polyposis coli (APC) gene...
The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposisG Steinbach
University of Texas M D Anderson Cancer Center, Houston 77030, USA
N Engl J Med 342:1946-52. 2000..Patients with familial adenomatous polyposis have a nearly 100 percent risk of colorectal cancer. In this disease, the chemopreventive effects of nonsteroidal antiinflammatory drugs may be related to their inhibition of cyclooxygenase-2...
Familial adenomatous polyposis: prevalence of adenomas in the ileal pouch after restorative proctocolectomyY R Parc
Department of Digestive Surgery, , University Pierre et Marie Curie, Paris, France
Ann Surg 233:360-4. 2001..a correlation exists between the presence of pouch adenomas and duodenal adenomas and the site of the adenomatous polyposis coli gene mutation...
Expression of CD44 in Apc and Tcf mutant mice implies regulation by the WNT pathwayV J Wielenga
Department of Pathology, Academic Medical Center, University of Amsterdam, The Netherlands
Am J Pathol 154:515-23. 1999..Our results indicate that CD44 expression is part of a genetic program controlled by the beta-catenin/Tcf-4 signaling pathway and suggest a role for CD44 in the generation and turnover of epithelial cells...
The androgen receptor can promote beta-catenin nuclear translocation independently of adenomatous polyposis coliDavid J Mulholland
Prostate Research Centre, 2660 Oak St, Jack Bell Research, Vancouver General Hospital, Vancouver, British Columbia V6H 3Z6, Canada
J Biol Chem 277:17933-43. 2002..We further showed that the AR does not interact with adenomatous polyposis coli or glycogen synthase kinase-3beta and, therefore, conclude that androgen-mediated transport of beta-..
Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinomaBrindusa Truta
University California San Francisco, Department of Medicine, Comprehensive Cancer Center, San Francisco, California, USA
Fam Cancer 2:95-9. 2003..3%) unrelated patients with FAP associated thyroid cancers were identified. Adenomatous polyposis coli (APC) gene testing was performed in 14 of the 16 cases...
Does a selective cyclooxygenase-2 inhibitor (tiracoxib) induce clinically sufficient suppression of adenomas in patients with familial adenomatous polyposis? A randomized double-blind placebo-controlled clinical trialTakeo Iwama
Department of Surgery, Kyoundo Hospital, Sasaki Institute, 1 8 Kanda Surugadai, Tokyo 101 0062, Japan
Int J Clin Oncol 11:133-9. 2006..This study was designed to examine the regressive effect of a selective COX-2 inhibitor, tiracoxib (JTE-522), on colorectal polyps in patients with familial adenomatous polyposis (FAP), and its safety...
Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancersSarah E R Halford
Molecular and Population Genetics Laboratory, London Institute, Cancer Research United Kingdom, London, UK
Am J Pathol 162:1545-8. 2003..Somatic inactivation of the DNA glycosylases involved in the BER pathway however does not appear to be involved in colorectal tumorigenesis...
A randomized, double-blind, placebo-controlled trial of the effects of rofecoxib, a selective cyclooxygenase-2 inhibitor, on rectal polyps in familial adenomatous polyposis patientsTetsuro Higuchi
Department of Digestive Surgery, Graduate School, Tokyo Medical and Dental University, Tokyo 113-8519, Japan
Clin Cancer Res 9:4756-60. 2003..922). CONCLUSIONS: In this study, once-daily treatment with 25 mg rofecoxib, a cyclooxygenase 2-specific inhibitor, significantly decreased the number and size of rectal polyps in familial adenomatous polyposis patients...
Clinically inapparent adrenal mass in a patient with familial adenomatous polyposisP J Pinés Corrales
Department of Endocrinology, Hospital Ramon y Cajal, Madrid, Spain
Horm Res 66:207-10. 2006..To our knowledge, this is the first case in the literature in which a hypersecretion of aldosterone and cortisol in the adrenal mass of a patient diagnosed of FAP has been demonstrated...
Surveillance of duodenal adenomas in familial adenomatous polyposis reveals high cumulative risk of advanced diseaseJean Christophe Saurin
Service d Hepatogastroenterologie, Pavillon I, Hopital Edouard Herriot, 5 Place d Arsonval, 69437 Lyon Cedex 03, France
J Clin Oncol 22:493-8. 2004..Our aim was to determine their respective frequency, risk factors, and cumulative risk...
NH2-terminal deletion of beta-catenin results in stable colocalization of mutant beta-catenin with adenomatous polyposis coli protein and altered MDCK cell adhesionA I Barth
Department of Molecular and Cellular Physiology, Stanford University School of Medicine, California 94305 5426, USA
J Cell Biol 136:693-706. 1997..beta-Catenin also binds to adenomatous polyposis coli (APC) protein, a cytosolic protein that is the product of a tumor suppressor gene mutated in colorectal ..
Identification of FAP locus genes from chromosome 5q21K W Kinzler
Molecular Genetics Laboratory, Johns Hopkins University School of Medicine, Baltimore, MD 21231
Science 253:661-5. 1991..Both genes were also expressed in a wide variety of tissues. Further studies of MCC and APC and their potential interaction should prove useful for understanding colorectal neoplasia...
Analysis of Wnt/Beta catenin signalling in desmoid tumorsS Tejpar
Center for Human Genetics, KULeuven, Herestraat 49, 3000 Leuven
Acta Gastroenterol Belg 68:5-9. 2005..Our findings also point to a role for this pathway in the regulation of normal myofibroblast proliferation and suggest novel treatments in desmoid tumors and other fibrous proliferative disorders...
Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cystsMarie Luise Bisgaard
Institute of Medical Biochemistry and Genetics, Department G, Copenhagen University, Panum Institute 24 4, Copenhagen N, Denmark
Am J Med Genet A 140:200-4. 2006..Osteomas appeared most frequently in patients with sebaceous cysts, odds ratio 6.6, P < 0.001. The study provides molecular evidence that Gardner syndrome is a variant of FAP and essentially obsolete in clinical practice...
Small changes in expression affect predisposition to tumorigenesisHai Yan
The Howard Hughes Medical Institute, The Oncology Center, and the Department of Medicine, The Johns Hopkins Medical Institutions, Baltimore, Maryland 21231, USA
Nat Genet 30:25-6. 2002..have used quantitative measures of gene expression to show that constitutional 50% decreases in expression of one adenomatous polyposis coli tumor suppressor gene (APC) allele can lead to the development of familial adenomatous polyposis.
[Current concepts in the genetics of hereditary and sporadic colorectal cancer and the role of genetics in patient management. Hereditary colorectal cancers]Peter Laszlo Lakatos
Semmelweis Egyetem, Általános Orvostudományi Kar, I Belgyógyászati Klinika, Budapest
Orv Hetil 147:363-8. 2006..Due to the high number of mutation genetic testing is difficult in HNPCC families and colonoscopic screening should be advised to affected families...
APC haploinsufficiency, but not CTNNB1 or CDH1 gene mutations, accounts for a fraction of familial adenomatous polyposis patients without APC truncating mutationsTiziana Venesio
Unit of Pathology, Institute for Cancer Research and Treatment, Candiolo Torino, Genova, Italy
Lab Invest 83:1859-66. 2003..In addition to the classic form, there is also attenuated polyposis (attenuated adenomatous polyposis coli; AAPC), which is characterized by a milder phenotype...
Identification of a novel duplication in the APC gene using multiple ligation probe amplification in a patient with familial adenomatous polyposisLucia Pedace
Medical Genetics, Experimental Medicine Department, University of Rome La Sapienza, S Camillo Forlanini Hospital, Circ ne Gianicolense n 87, 00152 Rome, Italy
Cancer Genet Cytogenet 182:130-5. 2008Germline mutations in the adenomatous polyposis coli (APC) gene cause familial adenomatous polyposis (FAP), an autosomal dominant disease characterized by hundreds to thousands of adenomatous polyps in the colon and rectum, with ..
APC mutation spectrum in ileoanal pouch polyps resembles that of colorectal polypsO C C Will
Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London, UK
Br J Surg 95:765-9. 2008..In FAP adenomas, the relationship between germline and somatic adenomatous polyposis coli (APC) mutations is determined by 'just right' beta-catenin signalling in tumour cells, with respect to ..
Pregnancy does not influence colonic polyp multiplicity but may modulate upper gastrointestinal disease in patients with FAPNirosha Suraweera
J Med Genet 44:541-4. 2007..Familial adenomatous polyposis (FAP) patients carry a germline adenomatous polyposis coli (APC) mutation predisposing to multiple adenoma formation in the intestine...
Linear allele-specific long-range amplification: a novel method of long-range molecular haplotypingWei Ming Wu
Department of Dermatology, Chang Gung Memorial Hospital, Taipei, Taiwan
Hum Mutat 26:393-4. 2005..The simplicity, along with long-sequence accessibility and feasibility of a single nucleotide difference as the discriminative marker indicated our method holds promise for future gene-mapping studies...
Mutation spectrum of the APC gene in 83 Korean FAP familiesDuck Woo Kim
Research Institute and Hospital, National Cancer Center, Goyang, Gyeonggi, Korea
Hum Mutat 26:281. 2005..polyposis (FAP) is a clinically well-defined hereditary disease caused by germline mutations in the adenomatous polyposis coli (APC) gene...
[Genetics of colon carcinogenesis]Shin Sasaki
Department of Surgical Oncology, University of Tokyo
Nippon Rinsho 61:72-4. 2003
[Genetic and molecular biology techniques for the analysis of hereditary colorectal cancer]S Castellvi-Bel
Servicio de Gastroenterologia, Institut de Malalties Digestives, Hospital Clinic, Barcelona, Espana
Gastroenterol Hepatol 28:354-60. 2005..Genetic diagnosis allows clinical diagnosis to be confirmed, as well as presymptomatic and even prenatal diagnoses to be made, with implications for patients with these hereditary diseases and their families...
Differential gene expression profile reveals deregulation of pregnancy specific beta1 glycoprotein 9 early during colorectal carcinogenesisSima Salahshor
Department of Medical Biophysics, Ontario Cancer Institute, 610 University Ave, Toronto, Ontario, M5G 2M9, Canada
BMC Cancer 5:66. 2005APC (Adenomatous polyposis coli) plays an important role in the pathogenesis of both familial and sporadic colorectal cancer...
[Hereditary colorectal cancer: Molecular analysis of APC and MLH1 genes]Felipe Bellolio R
, , Facultad de Medicina, , Santiago, Chile
Rev Med Chil 134:841-8. 2006..504insA. DISCUSSION: Germ-line mutations were identified in the three families. The relevance of these studies in a better knowledge of cancer susceptibility, and the possibility of identifying in relatives in risk by molecular diagnosis...
Very high incidence of familial colorectal cancer in Newfoundland: a comparison with Ontario and 13 other population-based studiesR C Green
Faculty of Medicine, Memorial University of Newfoundland, St John s, NL, Canada
Fam Cancer 6:53-62. 2007..We conclude that the high incidence of CRC in Newfoundland may be attributable to genetic, or at least familial, factors. In the high-risk families we provide evidence for the involvement of founder mutations in the APC and MSH2 genes...
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposisM Nielsen
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Clin Genet 71:427-33. 2007..We aimed to assess the presence of germline mutations in the MUTYH and adenomatous polyposis coli (APC) genes in AFAP families and to compare the clinical features between the two causative genes...
Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based studyFrancesc Balaguer
Department of Gastroenterology, Institut de Malalties Digestives i Metaboliques, Hospital Clinic, CIBERehd, IDIBAPS Institut d Investigacions Biomèdiques August Pi i Sunyer, University of Barcelona, Barcelona, Catalonia, Spain
Clin Gastroenterol Hepatol 5:379-87. 2007....
Role of inherited defects of MYH in the development of sporadic colorectal cancerTakeshi Kambara
Conjoint Gastroenterology Laboratory, Royal Brisbane and Women s Hospital Research Foundation and Queensland Institute of Medical Research, Brisbane, Australia
Genes Chromosomes Cancer 40:1-9. 2004..02). These results suggest that single germ-line variants of MYH may influence genetic pathways in CRC...
Genetic predisposition to colorectal cancerAlbert de la Chapelle
Human Cancer Genetics Program, The Ohio State University, 646 Tzagournis Medical Research Facility, 420 W 12th Avenue, Columbus, Ohio 43210, USA
Nat Rev Cancer 4:769-80. 2004....
Germline epimutations of APC are not associated with inherited colorectal polyposisM Hitchins
Gut 55:586-7. 2006
Environmental factors and colorectal tumor risk in individuals with hereditary nonpolyposis colorectal cancerBrenda Diergaarde
Division of Human Nutrition, Wageningen University, Wageningen, The Netherlands
Clin Gastroenterol Hepatol 5:736-42. 2007..Environmental factors might play a role in HNPCC-associated carcinogenesis. The aim of this study was to gain insight into the effects of environmental factors on colorectal tumor risk in individuals with HNPCC...
Prevention of colorectal cancer using COX-2 inhibitors: basic science and clinical applicationsArthur J Chu
Multidisciplinary Research Center, Shantou University
Front Biosci 9:2697-713. 2004..COX-2 activity to carcinogenesis was derived from epidemiologic studies and animal models with defect adenomatous polyposis coli (APC) gene...
Loss of DNA mismatch repair function and cancer predisposition in the mouse: animal models for human hereditary nonpolyposis colorectal cancerLisa Edelmann
Human Genetics, Mt. Sinai School of Medicine, New York, NY, USA
Am J Med Genet C Semin Med Genet 129:91-9. 2004....
Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutationsC Thirlwell
Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, 44, Lincoln s Inn Fields, London WC2A 3PX, UK
Br J Cancer 96:1729-34. 2007..We suggest that, at least in some cases, the MCRA phenotype results from germline variation that acts subsequent to tumour initiation, perhaps by causing more rapid or more likely progression from microadenoma to macroadenoma...
Beta-catenin/Tcf-4 inhibition after progastrin targeting reduces growth and drives differentiation of intestinal tumorsJulie Pannequin
CNRS UMR5203, Montpellier, France
Gastroenterology 133:1554-68. 2007..encoded by a target gene of this complex, was in turn able to regulate beta-catenin/Tcf-4 activity in adenomatous polyposis coli (APC)-mutated cells, and we analyzed the impact of topical progastrin depletion on intestinal tumor ..
Genotype-phenotype correlations as a guide in the management of familial adenomatous polyposisMary H Nieuwenhuis
The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden University Medical Centre, Leiden, The Netherlands
Clin Gastroenterol Hepatol 5:374-8. 2007..Rectal cancer risk is eliminated by IPAA, but complication rate is higher than in IRA. Mutation analysis might predict severity of polyposis and be helpful in the surgical decision...
Chromosomal instability in MYH- and APC-mutant adenomatous polypsJoana Cardoso
Department of Pathology, Josephine Nefkens Institute, Rotterdam, The Netherlands
Cancer Res 66:2514-9. 2006..The aneuploid changes detected at early stages of MYH-driven tumorigenesis may underlie accelerated tumor progression, increased cancer risk, and poor prognosis in MAP...
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. 2004The adenomatous polyposis coli (APC) protein is a tumor suppressor frequently involved in the development of inherited and sporadic colon cancers. Somatic mutations of the APC gene are found in 80% of all colon cancers...
The complex genotype-phenotype relationship in familial adenomatous polyposisHeikki J Jarvinen
Department of Gastroenterological Surgery, Helsinki University Central Hospital, Helsinki, Finland
Eur J Gastroenterol Hepatol 16:5-8. 2004..The clinical applications of genotype-phenotype correlation on the management of patients with familial adenomatous polyposis remain limited apart from predictive genetic testing...
Genetic testing for germline mutations of the APC gene in patients with apparently sporadic desmoid tumors but a family history of colorectal carcinomaWolfgang M Brueckl
Department of Internal Medicine I, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
Dis Colon Rectum 48:1275-81. 2005....
APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenomaGregory J Tranah
Department of Epidemiology, Harvard School of Public Health, 677 Huntington Avenue, Boston, MA 02115, USA
Cancer Epidemiol Biomarkers Prev 14:863-70. 2005Mutation of the adenomatous polyposis coli (APC) tumor suppressor gene is an important initiating factor in the early stages of the adenoma-carcinoma sequence...
Research Grants
- PHYSIOLOGY AND CLONING OF B FRAGILIS ENTEROTOXINCYNTHIA SEARS; Fiscal Year: 2010..Key factors in the pathogenesis of colonic neoplasia are germline mutations in the adenomatous polyposis coli (ARC) gene and chronic inflammation as exemplified by patients with familial adenomatous polyposis or ..
- PHYSIOLOGY AND CLONING OF B FRAGILIS ENTEROTOXINCYNTHIA SEARS; Fiscal Year: 2007..Key factors in the pathogenesis of colonic neoplasia are germline mutations in the adenomatous polyposis coli (ARC) gene and chronic inflammation as exemplified by patients with familial adenomatous polyposis or ..
- PHYSIOLOGY AND CLONING OF B FRAGILIS ENTEROTOXINCYNTHIA SEARS; Fiscal Year: 2009..Key factors in the pathogenesis of colonic neoplasia are germline mutations in the adenomatous polyposis coli (ARC) gene and chronic inflammation as exemplified by patients with familial adenomatous polyposis or ..
- Mechanisms of tumor suppressor gene reactivation in colon cancer by berriesLi Shu Wang; Fiscal Year: 2010..We now propose to evaluate the anthocyanins in berries for their ability to demethylate and reactivate tumor suppressor genes in colon cancer. ..
- Prevention of APC-Dependent Intestinal CarcinogenesisEugene W Gerner; Fiscal Year: 2010Mutations/deletions in the adenomatous polyposis coli (APC) gene occur in the majority of sporadic colon cancers...
- Prevention of APC-Dependent Intestinal CarcinogenesisEugene W Gerner; Fiscal Year: 2010Mutations/deletions in the adenomatous polyposis coli (APC) gene occur in the majority of sporadic colon cancers...
- Combined Chemoprevention in Beta-Catenin Mutant MiceGayle Orner; Fiscal Year: 2004....
- Combined effects of tea plus NSAIDS towards colon cancerGayle Orner; Fiscal Year: 2004..abstract_text> ..
- Chemoprevention of Duodenal Polyps in FAPJames DiSario; Fiscal Year: 2003..apoptosis assays in Familial Adenomatous Polyposis (FAP) patients who have had colectomy or Attenuated Adenomatous Polyposis Coli (AAPC) patients whom may or may not have undergone colectomy...
- 5-LOX-1 and Clinical Chemoprevention of Colon TumorsImad Shureiqi; Fiscal Year: 2007..If our hypothesis is confirmed, efforts can be directed to develop chemopreventive interventions that specifically target the GATA-6 and 15-LOX-1 signaling pathway. ..
- EFFECTS OF ENVIRONMENT AND INHERITANCE ON COLONIC POLYPSRandall Burt; Fiscal Year: 1993..The gene responsible for colonic neoplasms in this kindred maps to the adenomatous polyposis coli (APC) locus, although the phenotype in the kindred is very different from that of APC...
- Clinical Approaches to Ileal Pouch DysfunctionBo Shen; Fiscal Year: 2005..The AIMS of study are to 1) investigate visceral hypersensitivity using barostat examination of the pouch; 2) conduct a randomized, placebo-controlled clinical trial evaluating the use of amitriptyline in IPS. ..
- Radial Glial Development And DifferentiationEva S Anton; Fiscal Year: 2010..Our preliminary results show that Adenomatous Polyposis Coli (APC) serves an essential function in the development of polarized radial glial scaffold during brain ..
- MECHANISMS OF INTESTINAL TUMORIGENESISVincent W Yang; Fiscal Year: 2010..Thus, somatic or germline inactivation of TSGs such as adenomatous polyposis coli (APC), p53 and several genes involved in DNA mismatch repair;and oncogenic activation of KRAS, BRAF and ?..
- CHARACTERIZATION OF GENES FROM THE FAP LOCUSKENNETH KINZLER; Fiscal Year: 1993..The combination of the above studies should provide important insights into the role of APC and MCC in colorectal tumorigenesis...
- JC Virus and Human Colorectal NeoplasiaCLEMENT RICHARD BOLAND; Fiscal Year: 2010..It is the long-term aim of this project to determine whether we should develop a vaccine that will prevent primary infection by JC virus, and prevent the occurrence of colorectal cancer. ..
- BIOADHESIVE MICROSPHERES FOR COLON CANCER THERAPYNEJAT EGILMEZ; Fiscal Year: 2002..intestinal tumors arise spontaneously as a result of a mutation in the murine homolog of the human adenomatous polyposis coli (APC) gene...
- POLYMORPHISMS IN PG/COX PATHWAY AND COLORECTAL POLYPSCornelia Ulrich; Fiscal Year: 2003..Finally, we plan to develop a model for integrating information on genetic variability at multiple points in this metabolic pathway. ..
- The Role of Beta-catenin/Tcf Pathway Defects in CancerEric Fearon; Fiscal Year: 2007..The glycogen synthase kinase 3beta (GSK3beta) protein functions in concert with the Axin and APC (adenomatous polyposis coli) tumor suppressor proteins and other kinases to phosphorylate (-catenin at multiple serine and threonine ..
- The Role of Beta-catenin/Tcf Pathway Defects in CancerEric Fearon; Fiscal Year: 2009..The glycogen synthase kinase 3beta (GSK3beta) protein functions in concert with the Axin and APC (adenomatous polyposis coli) tumor suppressor proteins and other kinases to phosphorylate (-catenin at multiple serine and threonine ..
- Anaylsis of the spatial control of cytokinesis in plantsLaurie Smith; Fiscal Year: 2005..Tan1 encodes a basic protein related to the microtubule (MT)-binding basic domain of adenomatous polyposis coli (APC, a human tumor suppressor)...
- REGULATION OF NEURONAL SYNAPTIC COMPONENTSMichele Jacob; Fiscal Year: 2009..Our recent studies identify adenomatous polyposis coli (APC) as a key molecular player in interneuronal cholinergic synapse assembly in vivo...
- REGULATION OF NEURONAL SYNAPTIC COMPONENTSMichele Jacob; Fiscal Year: 2007..Our recent studies identify adenomatous polyposis coli (APC) as a key molecular player in interneuronal cholinergic synapse assembly in vivo...
- EICOSANOIDS AND INTESTINAL EPITHELIAL GROWTHRaymond DuBois; Fiscal Year: 2002..Min mice have a germline mutation in the murine homolog of the adenomatous polyposis coli (mAPC) gene and develop multiple intestinal tumors...
- WNT AND FRIZZLED SIGNALING IN MAMMARY ONCOGENESISJan Kitajewski; Fiscal Year: 2003..Their focus is on disheveled, glycogen synthase kinase-3, beta-catenin, adenomatous polyposis coli (APC), axin (fused), TCF/Lef and on the potential interactions between Wnt and signaling cascades that ..
- INTERACTION OF APC AND P53 IN COLORECTAL CARCINOGENESISSatya Narayan; Fiscal Year: 2001..The association of altered expression of adenomatous polyposis coli (APC) tumor suppressor gene with poor prognosis in colon cancer patients is well established; however, ..
