10,392 results match your criteria Familial Adenomatous Polyposis


The Wnt signaling pathway: a potential therapeutic target against cancer.

Ann N Y Acad Sci 2019 Apr 24. Epub 2019 Apr 24.

Division of Molecular Medicine, Bose Institute, Kolkata, India.

The role of the evolutionarily conserved Wnt signaling pathway is well documented in several cellular processes, such as cell proliferation, differentiation, cell motility, and maintenance of the stem cell niche. The very first indication that aberrant Wnt signaling can cause carcinogenesis came from a finding that the mutation of the adenomatous polyposis coli gene (APC) predisposes a person to colorectal carcinoma. Later, with progressing research it became clear that abnormal activation or mutation of the genes related to this pathway could drive tumorigenesis. Read More

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http://dx.doi.org/10.1111/nyas.14027DOI Listing

Lateral pararectal versus transrectal stoma placement for prevention of parastomal herniation.

Cochrane Database Syst Rev 2019 Apr 24;4:CD009487. Epub 2019 Apr 24.

Department of Surgery, University Medical Centre Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1-3, Mannheim, Baden-Württemberg, Germany, 68167.

Background: A parastomal hernia is defined as an incisional hernia related to a stoma, and belongs to the most common stoma-related complications. Many factors, which are considered to influence the incidence of parastomal herniation, have been investigated. However, it remains unclear whether the enterostomy should be placed through, or lateral to the rectus abdominis muscle, in order to prevent parastomal herniation and other important stoma complications. Read More

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http://dx.doi.org/10.1002/14651858.CD009487.pub3DOI Listing

Abnormality of hepatic triglyceride metabolism in Apc mice with colon cancer cachexia.

Life Sci 2019 Apr 16. Epub 2019 Apr 16.

Jilin Provincial Key Laboratory of Animal Embryo Engineering, College of Animal Sciences, Jilin University, No.5333 Xi'an Road, Lvyuan District, Changchun 130062, Jilin Province, China. Electronic address:

Aims: Colorectal cancer syndrome has been one of the greatest concerns in the world. Although several epidemiological studies have shown that hepatic low lipoprotein lipase (LPL) mRNA expression may be associated with dyslipidemia and tumor progression, it is still not known whether the liver plays an essential role in hyperlipidemia of Apc mice.

Main Methods: We measured the expression of metabolic enzymes that involved fatty acid uptake, de novo lipogenesis (DNL), β-oxidation and investigated hepatic triglyceride production in the liver of wild-type and Apc mice. Read More

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http://dx.doi.org/10.1016/j.lfs.2019.04.041DOI Listing

Novel screening system revealed that intracellular cholesterol trafficking can be a good target for colon cancer prevention.

Sci Rep 2019 Apr 17;9(1):6192. Epub 2019 Apr 17.

Division of Prevention, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan.

In conventional research methods for cancer prevention, cell proliferation and apoptosis have been intensively targeted rather than the protection of normal or benign tumor cells from malignant transformation. In this study, we aimed to identify candidate colon cancer chemopreventive drugs based on the transcriptional activities of TCF/LEF, NF-κB and NRF2, that play important roles in the process of malignant transformation. We screened a "validated library" consisting of 1280 approved drugs to identify hit compounds that decreased TCF/LEF and NF-κB transcriptional activity and increased NRF2 transcriptional activity. Read More

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http://www.nature.com/articles/s41598-019-42363-y
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http://dx.doi.org/10.1038/s41598-019-42363-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6470178PMC
April 2019
1 Read

Difference in Pouchitis Incidence between Ulcerative Colitis and Familial Adenomatous Polyposis: Is the Explanation in Peripouch Fat?

Colorectal Dis 2019 Apr 15. Epub 2019 Apr 15.

Department of Gastroenterology/Hepatology, the Cleveland Clinic Foundation, Cleveland, OH, USA.

Aim: Ulcerative colitis (UC) patients have an unexplained higher incidence of pouchitis and a greater amount of peripouch fat, compared with familial adenomatous polyposis (FAP) patients. The aims of this study were to compare the peripouch fat areas between UC and FAP patients, and to explore its relationship with pouchitis and chronic antibiotic-refractory pouchitis (CARP).

Method: Patients with abdominal CT from our prospectively maintained Pouch Database were included. Read More

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http://dx.doi.org/10.1111/codi.14651DOI Listing
April 2019
1 Read

Serum metabolite profiling of familial adenomatous polyposis using ultra performance liquid chromatography and tandem mass spectrometry.

Cancer Biol Ther 2019 Apr 14:1-12. Epub 2019 Apr 14.

a Medical School of Chinese PLA , Chinese PLA General Hospital , Beijing , China.

Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited intestinal polyposis syndrome accounting for about 1% of colorectal cancers (CRC). Despite increasing researches on the molecular pathogenesis of CRC, we are still unclear about metabolic pathways and alterations probably involved in the development of CRC. To obtain new insights into the mechanisms underlying APC mutation and to elucidate the mechanisms of CRC development, we performed to identify the potential metabolites in FAP based on metabolomic strategy. Read More

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http://dx.doi.org/10.1080/15384047.2019.1595277DOI Listing
April 2019
1 Read

The ABC's of re-do ileoanal pouches, what every gastroenterologist should know.

Curr Opin Gastroenterol 2019 Apr 9. Epub 2019 Apr 9.

The Cleveland Clinic Foundation, Cleveland, Ohio, USA.

Purpose Of Review: To describe the development of re-do pouch surgery, what it entails, its indications and role in the management of patients with inflammatory bowel disease.

Recent Findings: Re-do pouch surgery has very good outcomes and excellent patient satisfaction when performed on carefully selected patients in specialized centers.

Summary: The ileal pouch anal anastomosis (IPAA) procedure, which was developed 40 years ago, is a mainstay in the reconstruction of patients who undergo a proctoclectomy for ulcerative colitis and familial adenomatous polyposis (FAP). Read More

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http://dx.doi.org/10.1097/MOG.0000000000000537DOI Listing
April 2019
3 Reads

Assessing Hereditary Colorectal Cancer Referral Patterns to a Tertiary Care Center: A Novel Approach Using Geographic Information System Mapping.

Dis Colon Rectum 2019 Apr 5. Epub 2019 Apr 5.

Background: Patients and their family members with hereditary colorectal cancer require longitudinal follow-up that is best achieved through a dedicated program with a registry. However, referrals for these conditions remain poor. Geographic information systems technology is a novel method to evaluate geographic variation in multiple realms but is being used more in health care. Read More

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http://dx.doi.org/10.1097/DCR.0000000000001398DOI Listing
April 2019
4 Reads

Adenomatous Polyposis Coli as a Scaffold for Microtubule End-Binding Proteins.

J Mol Biol 2019 Apr 6. Epub 2019 Apr 6.

Grenoble Institut des Neurosciences, INSERM U1216, Univ. Grenoble Alpes, Grenoble, 38000 France. Electronic address:

End-binding proteins (EBs), referred to as the core components of the microtubule plus-end tracking protein network, interact with the C-terminus of the adenomatous polyposis coli (APC) tumor suppressor. This interaction is disrupted in colon cancers expressing truncated APC. APC and EBs act in synergy to regulate microtubule dynamics during spindle formation, chromosome segregation and cell migration. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00222836193017
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http://dx.doi.org/10.1016/j.jmb.2019.03.028DOI Listing
April 2019
4 Reads

The expression of TAP1 candidate gene, but not its polymorphism and methylation, is associated with colonic polyp formation in a porcine model of human familial adenomatous polyposis.

Anim Biotechnol 2019 Apr 5:1-8. Epub 2019 Apr 5.

a Department of Genetics and Animal Breeding , Poznan University of Life Sciences , Poznan , Poland.

In humans, the dysfunction of the adenomatous polyposis coli (APC) gene causes hereditary familial adenomatous polyposis (FAP) and increased risk of colorectal cancer (CRC). The severity of polyposis varies between individuals, but genetic basis for this is in large part unknown. This variability also occurs in our porcine model of FAP, based on an APC mutation (orthologous to human APC). Read More

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http://dx.doi.org/10.1080/10495398.2019.1590377DOI Listing
April 2019
3 Reads

MiR-125b regulates the proliferation and metastasis of triple negative breast cancer cells via the Wnt/β-catenin pathway and EMT.

Biosci Biotechnol Biochem 2019 Apr 5:1-10. Epub 2019 Apr 5.

c Department of Oncology , The Third Affiliated Hospital of Kunming Medical University , Kunming , Yunnan , China.

Background/aim: MiR-125b plays an important role in breast cancer. The current study was to explore the expression and function of miR-125b in triple negative breast cancer cells.

Materials And Methods: The expression of miR-125b in human TNBC samples and cell lines were examined by qRT-PCR. Read More

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http://dx.doi.org/10.1080/09168451.2019.1584521DOI Listing
April 2019
1.063 Impact Factor

AKIP1 promotes early recurrence of hepatocellular carcinoma through activating the Wnt/β-catenin/CBP signaling pathway.

Oncogene 2019 Apr 1. Epub 2019 Apr 1.

Department of Experimental Research, State Key Laboratory of Oncology in Southern China, Collaborative Innovation Center for Cancer Medicine, Sun Yat-sen University Cancer Center, 510060, Guangzhou, Guangdong, China.

The early recurrence of hepatocellular carcinoma (HCC) is the main obstacle for long-term survival of patients. Wnt/β-catenin signaling has been involved in the development and progression of HCC. However, the molecular changes that link Wnt/β-catenin activation and HCC early recurrence remain poorly understood. Read More

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http://dx.doi.org/10.1038/s41388-019-0807-5DOI Listing
April 2019
1 Read
8.459 Impact Factor

Management of genetically determined colorectal cancer.

Authors:
S K Clark

Surgeon 2019 Mar 29. Epub 2019 Mar 29.

St. Mark's Hospital, Harrow, UK; Department of Surgery and Cancer, Imperial College, London, UK. Electronic address:

Surgeons are increasingly treating patients for colorectal cancer who are known to have a genetic predisposition to develop the disease; this may modify the surgical and oncological management of the patient. In this review the approach to the patient with colorectal cancer on a background of Lynch syndrome or familial adenomatous polyposis is explored. Read More

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http://dx.doi.org/10.1016/j.surge.2019.03.003DOI Listing
March 2019
2 Reads

Adenomatous polyposis coli as a predictor of environmental chemical-induced transgenerational effects related to male infertility.

J Biochem Mol Toxicol 2019 Apr 1:e22331. Epub 2019 Apr 1.

School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China.

Exposure to toxic environmental chemicals during pregnancy is a ubiquitous threat to health with potentially transgenerational consequences. However, the underlying mechanism of how transgenerational effects occur as part of environmental chemical exposure are not well understood. We investigated the potential molecular changes associated with dibutyl phthalate exposure that induced transgenerational effects, using a rat model. Read More

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http://dx.doi.org/10.1002/jbt.22331DOI Listing

Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.

Int J Cancer 2019 Mar 29. Epub 2019 Mar 29.

High Risk and Familial Cancer, Vall d'Hebron Institute of Oncology, Barcelona.

Multigene panels provide a powerful tool for analyzing several genes simultaneously. We evaluated the frequency of pathogenic variants (PV) in customized predefined panels according to clinical suspicion by phenotype and compared it to the yield obtained in the analysis of our clinical research gene panel. We also investigated mutational yield of opportunistic testing of BRCA1/2 and mismatch repair (MMR) genes in all patients. Read More

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http://dx.doi.org/10.1002/ijc.32304DOI Listing
March 2019
3 Reads
5.085 Impact Factor

Assessment of Duodenal Adenomas and Strategies for Curative Therapy.

Dig Dis 2019 Mar 28:1-7. Epub 2019 Mar 28.

Clinic for Gastroenterology and Hepatology, Clinical Center Serbia, Belgrade, Serbia.

Background: The increasing incidence of duodenal neoplasm has underlined different methods of resection depending on the clinical presentation, endoscopic features and histopathology. In this comprehensive review, we systematically describe the current knowledge concerning the diagnosis and management of duodenal adenomas (DAs) and discuss data considering all possible therapeutic approaches.

Summary: Among a variety of duodenal lesions, including neuroendocrine tumors and gastrointestinal stromal tumors, DAs present precancerous lesions of the duodenal papilla or non-ampullary region necessitating removal. Read More

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https://www.karger.com/Article/FullText/496697
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http://dx.doi.org/10.1159/000496697DOI Listing
March 2019
3 Reads
1.832 Impact Factor

Pediatric craniopharyngioma in association with familial adenomatous polyposis.

Fam Cancer 2019 Mar 27. Epub 2019 Mar 27.

Morgan Adams Neuro-Oncology Program, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA.

Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome driven by germline loss-of-function of the APC gene and phenotypically manifests with intestinal polyposis and a variety of extra-intestinal bone and soft tissue tumors. Craniopharyngioma is not a well-described FAP-associated tumor, however, six cases have been reported in adults, all demonstrating ectopic location and adamantinomatous histology. We report the first case of craniopharyngioma associated with FAP in a pediatric patient. Read More

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http://link.springer.com/10.1007/s10689-019-00126-8
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http://dx.doi.org/10.1007/s10689-019-00126-8DOI Listing
March 2019
4 Reads

The role of inherited genetic variants in colorectal polyposis syndromes.

Authors:
E Short J Sampson

Adv Genet 2019 22;103:183-217. Epub 2019 Jan 22.

Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom. Electronic address:

Colorectal carcinoma (CRC) is the third most common cancer in men and the second most common cancer in women across the world. Most CRCs occur sporadically, but in 15-35% of cases, hereditary factors are important. Some patients with an inherited predisposition to CRC will be diagnosed with a "genetic polyposis syndrome" such as familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), polymerase proofreading associated polyposis (PPAP), NTHL1-associated polyposis, MSH3-associated polyposis or a hamartomatous polyposis syndrome. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00652660183003
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http://dx.doi.org/10.1016/bs.adgen.2018.11.002DOI Listing
January 2019
2 Reads

High-fructose corn syrup enhances intestinal tumor growth in mice.

Science 2019 03;363(6433):1345-1349

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Excessive consumption of beverages sweetened with high-fructose corn syrup (HFCS) is associated with obesity and with an increased risk of colorectal cancer. Whether HFCS contributes directly to tumorigenesis is unclear. We investigated the effects of daily oral administration of HFCS in adenomatous polyposis coli (APC) mutant mice, which are predisposed to develop intestinal tumors. Read More

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http://dx.doi.org/10.1126/science.aat8515DOI Listing
March 2019
31.477 Impact Factor

Genotype-phenotype correlation in 99 familial adenomatous polyposis patients: A prospective prevention protocol.

Cancer Med 2019 Mar 21. Epub 2019 Mar 21.

Cancer Genetics, Oncology Department, Sírio Libanes Hospital, São Paulo, Brazil.

Background: Familial adenomatous polyposis (FAP) is a syndrome caused by germline pathogenic variants in the tumor suppressor gene adenomatous polyposis coli (APC). Identification of APC pathogenic variants sites and the genotype-phenotype correlation are important for characterizing, monitoring, and treating members of affected families. The aim of this study was to correlate genotype-phenotype of Brazilian individuals carrying APC pathogenic germline variants and that have FAP. Read More

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http://dx.doi.org/10.1002/cam4.2098DOI Listing
March 2019
4 Reads

Association between KRAS G13D mutations and anastomotic recurrence in colorectal cancer: Two case reports.

Medicine (Baltimore) 2019 Mar;98(12):e14781

Rationale: The prevalence of anastomotic recurrence (AR) in colorectal cancer (CRC) after resection of the primary tumor (PT) is 5% to 14%. However, no association has been observed between specific somatic genetic alterations and AR. Such associations may shed light on the mechanism of AR. Read More

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http://dx.doi.org/10.1097/MD.0000000000014781DOI Listing
March 2019
1 Read

The application of Apc mouse model in colorectal tumor researches.

J Cancer Res Clin Oncol 2019 Mar 18. Epub 2019 Mar 18.

Changhai Hospital of Traditional Chinese Medicine, Second Military Medical University, Shanghai, 200433, China.

Purpose: Apc mouse is an excellent animal model bearing multiple intestinal neoplasia, used to simulate human familial adenomatous polyposis and colorectal tumors. The key point of this model is the mutation of Apc gene, which is a significant tumor-suppressor gene in the Wnt signaling pathway. There are also some other possible mechanisms responsible for the development of colorectal tumors in the Apc mouse model, such as tumor-associated signaling pathways activation, the changes of tumor-related genes, and the involvement of some related proteins or molecules. Read More

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http://link.springer.com/10.1007/s00432-019-02883-6
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http://dx.doi.org/10.1007/s00432-019-02883-6DOI Listing
March 2019
6 Reads

Promotion or Suppression of Murine Intestinal Polyp Development by iNKT Cell Directed Immunotherapy.

Front Immunol 2019 1;10:352. Epub 2019 Mar 1.

Department of Microbiology and Immunology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

The glycosphingolipid α-galactosylceramide (α-GalCer) is a well-described immune activator with strong anti-tumor properties in animal models. It is presented on CD1d and acts by stimulating the invariant, type I, natural killer T (iNKT) lymphocytes to rapidly secrete TH1 and TH2 associated cytokines. This in turn promotes activation of a diversity of immune cells including natural killer (NK) cells with anti-tumor functions. Read More

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http://dx.doi.org/10.3389/fimmu.2019.00352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6405695PMC

Familial Adenomatous Polyposis: Development, Presentation, and Treatment Strategies.

Authors:
Stephanie Dolan

Clin J Oncol Nurs 2019 Apr;23(2):135-138

Ohio State University Wexner Medical Center.

Familial adenomatous polyposis (FAP) is an inherited disorder that typically presents with multiple polyps in the colon. These polyps become cancerous if not monitored in the early stages or if left untreated. For those with a family history of FAP, colonoscopy screenings begin in adolescence and continue throughout adulthood because polyps can arise at an early age. Read More

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http://dx.doi.org/10.1188/19.CJON.135-138DOI Listing
April 2019
2 Reads

Survival of familial adenomatous polyposis coexistence colorectal cancer in Iran.

J Cancer Res Ther 2019 Jan-Mar;15(1):87-91

Liver and Gastrointestinal Diseases Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.

Context: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder. Colorectal cancer (CRC) has been implicated as the most common cause of death in FAP patients, especially in those with coexisting CRC at initial diagnosis (FAP-CRC).

Aim: We aimed to determine the survival rate of FAP-CRC and the factors affecting FAP-CRC survival. Read More

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http://dx.doi.org/10.4103/jcrt.JCRT_421_17DOI Listing
March 2019
1 Read

Lnc SMAD5-AS1 as ceRNA inhibit proliferation of diffuse large B cell lymphoma via Wnt/β-catenin pathway by sponging miR-135b-5p to elevate expression of APC.

Cell Death Dis 2019 Mar 15;10(4):252. Epub 2019 Mar 15.

Department of Oncology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui Province, China.

Diffuse large B cell lymphoma (DLBCL) is a common and fatal hematological malignancy. Long noncoding RNAs (lncRNAs) have emerged as crucial biomarkers and regulators in many cancers. Novel lncRNA biomarker in DLBCL needs to be investigated badly, as well as its function and molecular mechanism. Read More

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http://dx.doi.org/10.1038/s41419-019-1479-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420660PMC
March 2019
1 Read
5.014 Impact Factor

Ileal pouch-anal anastomosis with fluorescence angiography: a case-matched study.

Colorectal Dis 2019 Mar 14. Epub 2019 Mar 14.

Service of Visceral Surgery, Department of Surgery, Geneva University Hospitals and Medical School, Geneva, Switzerland.

Aim: An anastomotic leak in ileoanal pouch surgery may lead to pouch failure. Constructing a tension-free ileal pouch-anal anastomosis (IPAA) reduces this risk but can be technically challenging, balancing pouch vascularization with ileal mesenteric length and site of vessel ligation. Fluorescence angiography (FA) may help the clinician make a more balanced judgement. Read More

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http://dx.doi.org/10.1111/codi.14611DOI Listing

Inhibition of phosphodiesterase 4D decreases the malignant properties of DLD-1 colorectal cancer cells by repressing the AKT/mTOR/Myc signaling pathway.

Oncol Lett 2019 Mar 31;17(3):3589-3598. Epub 2019 Jan 31.

Department of Biological Sciences, Pusan National University, Busan 46241, Republic of Korea.

Colorectal cancer (CRC) is a complex disease involving numerous genetic abnormalities. One of the major characteristics of CRC is enhanced Wnt signaling caused by loss-of-function mutations in the adenomatous polyposis coli (APC) gene. Previously, it has been demonstrated that the majority of malignant phenotypes following APC deletion in adult murine small intestines could be rescued when Myc, a downstream target of the Wnt pathway, was deleted. Read More

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http://dx.doi.org/10.3892/ol.2019.9996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396110PMC
March 2019
3 Reads

Proteins of the Wnt signaling pathway as targets for the regulation of CD133+ cancer stem cells in glioblastoma.

Oncol Rep 2019 May 5;41(5):3080-3088. Epub 2019 Mar 5.

School of Biomedicine, Far Eastern Federal University, Vladivostok 690091, Russia.

Glioblastoma multiforme (GBM) is one of the most aggressive types of brain tumor and is highly resistant to therapy. The median survival time for patients with GBM is 15 months. GBM resistance to treatment is associated with cancer stem cells (CSCs). Read More

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http://dx.doi.org/10.3892/or.2019.7043DOI Listing
May 2019
1 Read

Wnt/β-catenin signaling, which is activated in odontomas, reduces Sema3A expression to regulate odontogenic epithelial cell proliferation and tooth germ development.

Sci Rep 2019 Mar 12;9(1):4257. Epub 2019 Mar 12.

Division of General Dentistry, Kyushu University Hospital, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.

Odontomas, developmental anomalies of tooth germ, frequently occur in familial adenomatous polyposis patients with activated Wnt/β-catenin signaling. However, roles of Wnt/β-catenin signaling in odontomas or odontogenic cells are unclear. Herein, we investigated β-catenin expression in odontomas and functions of Wnt/β-catenin signaling in tooth germ development. Read More

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http://dx.doi.org/10.1038/s41598-019-39686-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414619PMC

Update on genetic predisposition to colorectal cancer and polyposis.

Mol Aspects Med 2019 Mar 18. Epub 2019 Mar 18.

Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, D-69120, Heidelberg, Germany. Electronic address:

The present article summarizes recent developments in the characterization of genetic predisposition to colorectal cancer (CRC). The main themes covered include new hereditary CRC and polyposis syndromes, non-CRC hereditary cancer genes found mutated in CRC patients, strategies used to identify novel causal genes, and review of candidate genes that have been proposed to predispose to CRC and/or colonic polyposis. We provide an overview of newly described genes and syndromes associated with predisposition to CRC and polyposis, including: polymerase proofreading-associated polyposis, NTHL1-associated polyposis, mismatch repair gene biallelic inactivation-related adenomatous polyposis (including MSH3- and MLH3-associated polyposes), GREM1-associated mixed polyposis, RNF43-associated serrated polyposis, and RPS20 mutations as a rare cause of hereditary nonpolyposis CRC. Read More

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http://dx.doi.org/10.1016/j.mam.2019.03.001DOI Listing
March 2019
3 Reads

NTHL1-associate polyposis: first Australian case report.

Fam Cancer 2019 Apr;18(2):179-182

Hunter Family Cancer Service, Newcastle, NSW, Australia.

While familial adenomatous polyposis accounts for approximately 1% of all colorectal cancer, the genetic cause underlying the development of multiple colonic adenomas remains unsolved in many patients. Adenomatous polyposis syndromes can be divided into: familial adenomatous polyposis, MUTYH-associated polyposis, polymerase proofreading associated polyposis and the recently described NTHL1-associated polyposis (NAP). NAP is characterised by recessive inheritance, attenuated adenomatous polyposis, colonic cancer(s) and possible extracolonic malignancies. Read More

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http://link.springer.com/10.1007/s10689-018-0107-1
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http://dx.doi.org/10.1007/s10689-018-0107-1DOI Listing
April 2019
5 Reads

A Novel Mouse Model of Sporadic Colon Cancer Induced by Combination of Conditional Apc Genes and Chemical Carcinogen in the Absence of Cre Recombinase.

Carcinogenesis 2019 Mar 12. Epub 2019 Mar 12.

Department of Radiology, The University of Chicago, Chicago, Illinois, USA.

Although valuable insights into colon cancer biology have been garnered from human colon cancer cell lines and primary colonic tissues, and animal studies using human colon cancer xenografts, immunocompetent mouse models of spontaneous or chemically-induced colon cancer better phenocopy human disease. As most sporadic human colon tumors present adenomatous polyposis coli (APC) gene mutations, considerable effort has gone into developing mice that express mutant Apc alleles that mimic human colon cancer pathogenesis. A serious limitation of many of these Apc-mutant murine models, however, is that these mice develop numerous tumors in the small intestine but few, if any, in the colon. Read More

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http://dx.doi.org/10.1093/carcin/bgz050DOI Listing

Optimization of Peptidomimetics as Selective Inhibitors for the β-Catenin/T-Cell Factor Protein-Protein Interaction.

J Med Chem 2019 Apr 21;62(7):3617-3635. Epub 2019 Mar 21.

Drug Discovery Department , H. Lee Moffitt Cancer Center and Research Institute , Tampa , Florida 33612-9497 , United States.

The β-catenin/T-cell factor (Tcf) protein-protein interaction (PPI) plays a critical role in the β-catenin signaling pathway which is hyperactivated in many cancers and fibroses. Based on compound 1, which was designed to target the Tcf4 GANDE binding site of β-catenin, extensive structure-activity relationship studies have been conducted. As a result, compounds 53 and 57 were found to disrupt the β-catenin/Tcf PPI with the K values of 0. Read More

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http://dx.doi.org/10.1021/acs.jmedchem.9b00147DOI Listing
April 2019
5.447 Impact Factor

Clinical and molecular characterization of early-onset colorectal cancer.

Cancer 2019 Mar 11. Epub 2019 Mar 11.

Department of Gastrointestinal Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas.

Background: Colorectal cancer (CRC) incidence is increasing in adults younger than 50 years. This study evaluated clinical and molecular features to identify those features unique to early-onset CRC that differentiate these patients from patients 50 years old or older.

Methods: Baseline characteristics were evaluated according to the CRC onset age with 3 independent cohorts. Read More

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http://dx.doi.org/10.1002/cncr.31994DOI Listing
March 2019
3 Reads
4.889 Impact Factor

Molecular basis of familial adenomatous polyposis in the southeast of Brazil: identification of six novel mutations.

Int J Biol Markers 2019 Mar 11:1724600818814462. Epub 2019 Mar 11.

1 Departament of Genetics, Ribeirão Preto Medical School, University of São Paulo, Brazil.

Background:: The goal of this study was to screen point mutations and deletions in APC and MUTYH genes in patients suspected of familial adenomatous polyposis (FAP) in a Brazilian cohort.

Methods:: We used high-resolution melting, Sanger direct sequencing and multiplex ligation-dependent probe association (MLPA) assays to identify point mutations, and large genomic variations within the coding regions of APC and MUTYH genes.

Results:: We identified 19 causative mutations in 40 Brazilian patients from 20 different families. Read More

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http://dx.doi.org/10.1177/1724600818814462DOI Listing

Complications Related to J-Pouch Surgery.

Authors:
Khan Freeha Shen Bo

Gastroenterol Hepatol (N Y) 2018 Oct;14(10):571-576

Dr Khan is an IBD fellow and Dr Shen is director of the Inflammatory Bowel Disease Section in the Digestive Disease and Surgery Institute at Cleveland Clinic in Cleveland, Ohio.

Restorative proctocolectomy with ileal pouch-anal anastomosis is the gold-standard surgical procedure for familial adenomatous polyposis, refractory ulcerative colitis, and colitis- associated dysplasia requiring colectomy. Numerous adverse sequelae are associated with J-pouch surgery, including anastomotic leak, stricture, and fistula formation, among other complications. Pouch failure due to structural, inflammatory, or functional complications represents a challenge to both physicians and patients. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384396PMC
October 2018
2 Reads

Barriers to thyroid cancer screening with ultrasound in patients with familial adenomatous polyposis.

Laryngoscope 2019 Mar 7. Epub 2019 Mar 7.

Department of Otolaryngology-Head and Neck Surgery, Emory University, Atlanta, Georgia, U.S.A.

Objectives/hypothesis: To identify barriers to care in patients with familial adenomatous polyposis (FAP) that have not undergone ultrasound for thyroid cancer (TC) screening.

Study Design: Case series and survey.

Methods: A study was conducted examining referral patterns for thyroid ultrasound (TUS) in FAP patients for TC screening. Read More

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http://dx.doi.org/10.1002/lary.27820DOI Listing
March 2019
1 Read

Appropriate Management of Attenuated Familial Adenomatous Polyposis: Report of a Case and Review of the Literature.

Dig Dis 2019 Mar 5:1-6. Epub 2019 Mar 5.

Clinic for Gastroenterology and Hepatology, Clinical Center of Serbia, Belgrade, Serbia,

Hereditary polyposis syndromes in which APC gene germline mutations can lead to colorectal carcinogenesis are familial adenomatous polyposis (FAP), attenuated FAP (AFAP) and MUTYH-associated polyposis. All 3 syndromes increase the potential for the development of colorectal cancer. AFAP is diagnosed if less than 100 adenomas are detected in the colon at presentation. Read More

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http://dx.doi.org/10.1159/000497207DOI Listing
March 2019
1 Read

Cellular Plasticity of Defa4-Expressing Paneth Cells in Response to Notch Activation and Intestinal Injury.

Cell Mol Gastroenterol Hepatol 2019 27;7(3):533-554. Epub 2018 Nov 27.

Cell Biology, Stem Cells and Development Graduate Program, University of Colorado Medical School, Aurora, Colorado; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Colorado Medical School, Aurora, Colorado. Electronic address:

Background & Aims: Loss of leucine-rich repeat-containing G-protein-coupled receptor 5-positive crypt base columnar cells provides permissive conditions for different facultative stem cell populations to dedifferentiate and repopulate the stem cell compartment. In this study, we used a defensin α4-Cre recombinase (Defa4Cre) line to define the potential of Paneth cells to dedifferentiate and contribute to intestinal stem cell (ISC) maintenance during normal homeostasis and after intestinal injury.

Methods: Small intestine and enteroids from Defa4;Rosa26 tandem dimer Tomato (tdTomato), a red fluoresent protein, (or Rosa26 Enhanced Yellow Fluorescent Protein (EYFP)) reporter, Notch gain-of-function (Defa4;Rosa26 Notch Intracellular Domain (NICD)-ires-nuclear Green Fluorescent Protein (nGFP) and Defa4;Rosa26 Enhanced Green Fluorescent Protein (EGFP);TetO), A Disintegrin and Metalloproteinase domain-containing protein 10 (ADAM10) loss-of-function (Defa4;ADAM10), and Adenomatous polyposis coli (APC) inactivation (Defa4;APC) mice were analyzed. Read More

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http://dx.doi.org/10.1016/j.jcmgh.2018.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402430PMC
November 2018

A case with mesenteric desmoid tumor after laparoscopic resection of stage I sigmoid colon cancer.

Surg Case Rep 2019 Feb 28;5(1):38. Epub 2019 Feb 28.

Department of Surgery, Saitama Medical Center, Dokkyo Medical University, 2-1-50 Minami-Koshigaya, Koshigaya, Saitama, 343-8555, Japan.

Background: Intra-abdominal desmoid tumors are rare and generally occur in some patients with familial adenomatous polyposis or secondary to an external stimulus such as surgical trauma. We report herein a case of intra-abdominal desmoid tumor in the jejunal mesentery after laparoscopic colectomy for sigmoid colon cancer.

Case Presentation: A 74-year-old woman underwent laparoscopic sigmoid colectomy for colon cancer with pathological stage I. Read More

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http://dx.doi.org/10.1186/s40792-019-0587-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395456PMC
February 2019
3 Reads

Targeted next generation sequencing of pancreatic solid pseudopapillary neoplasms show mutations in Wnt signaling pathway genes.

Pathol Int 2019 Feb 27. Epub 2019 Feb 27.

Department of Histopathology, Imperial College London, Hammersmith Hospital, London, UK.

Solid pseudopapillary neoplasms of the pancreas are rare neoplasms that have been shown to harbor recurrent somatic pathogenic variants in the beta-catenin gene, CTNNB1. Here, we used targeted next generation sequencing to analyze these tumors for other associated mutations. Six cases of solid pseudopapillary neoplasms were studied. Read More

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http://dx.doi.org/10.1111/pin.12778DOI Listing
February 2019
8 Reads
1.585 Impact Factor

gene suppresses intracranial aneurysm formation and rupture through inhibiting the NF-κB signaling pathway mediated inflammatory response.

Biosci Rep 2019 Mar 26;39(3). Epub 2019 Mar 26.

Department of Neurosurgery, The Second Affiliated Hospital of Nanchang University, Nanchang 330006, China.

Intracranial aneurysm (IA) is a critical acquired cerebrovascular disease that may cause subarachnoid hemorrhage, and nuclear factor-κB (NF-κB)-mediated inflammation is involved in the pathogenesis of IA. Adenomatous polyposis coli () gene is a tumor suppressor gene associated with both familial and sporadic cancer. Herein, the purpose of our study is to validate effect of Apc gene on IA formation and rupture by regulating the NF-κB signaling pathway mediated inflammatory response. Read More

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http://dx.doi.org/10.1042/BSR20181909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434386PMC

TGIF transcription factors repress acetyl CoA metabolic gene expression and promote intestinal tumor growth.

Genes Dev 2019 04 26;33(7-8):388-402. Epub 2019 Feb 26.

Department of Biochemistry and Molecular Genetics, Center for Cell Signaling, University of Virginia, Charlottesville, Virginia 22908, USA.

Tgif1 (thymine-guanine-interacting factor 1) and Tgif2 repress gene expression by binding directly to DNA or interacting with transforming growth factor (TGF) β-responsive SMADs. Tgifs are essential for embryogenesis and may function in tumor progression. By analyzing both gain and loss of Tgif function in a well-established mouse model of intestinal cancer, we show that Tgifs promote adenoma growth in the context of mutant (). Read More

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http://dx.doi.org/10.1101/gad.320127.118DOI Listing
April 2019
2 Reads

Subcellular localization of mutated β-catenins with different incidences of cis-peptide bonds at the Xaa246-P247 site in HepG2 cells.

FASEB J 2019 Feb 26:fj201801937RR. Epub 2019 Feb 26.

School of Life Sciences, Chongqing University, Chongqing, China.

Mutations may ultimately change the local conformation of proteins; however, little attention has been paid to alterations in protein function caused by the incidence of cis-peptide bonds (ICPB) in mammalian cells. In this study, a statistical approach, coimmunoprecipitation, and immunofluorescence staining have been used to confirm that S246→Y and S246→W missense mutations, which help increase the ICPB in Xaa246-P247 (Xaa is any amino acid) in human β-catenin, can reduce the interactions between β-catenin and adenomatous polyposis coli (APC) and between β-catenin and Ca2-dependent cell adhesion molecule family in epithelial tissue (E-cadherin), eventually leading to increased nuclear migration of β-catenin in the HepG2 cell line (an immortalized cell line consisting of human liver carcinoma cells). Conversely, S246→L and S246→M missense mutations, which reduce the ICPB in Xaa246-P247 in human β-catenin, can enhance interactions between β-catenin and APC and between β-catenin and E-cadherin, leading to decreased nuclear migration of β-catenin. Read More

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http://dx.doi.org/10.1096/fj.201801937RRDOI Listing
February 2019
5.043 Impact Factor

Intracholecystic Papillary Neoplasms are Distinct From Papillary Gallbladder Cancers: A Clinicopathologic and Exome-sequencing Study.

Am J Surg Pathol 2019 Feb 21. Epub 2019 Feb 21.

Departments of Diagnostic Pathology.

Although intracholecystic papillary neoplasms (ICPNs) have been increasingly recognized, their features remain unclear because of the lack of standardized definition. This study aimed to elucidate clinicopathologic and genetic features of ICPNs using stringent diagnostic criteria. On the basis of the recently proposed criteria, gallbladder neoplasms showing delicate papillary growth were diagnosed as ICPNs, while polypoid papillary adenocarcinomas arranged in a complex architecture were categorized as papillary gallbladder cancers (GBCs). Read More

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http://dx.doi.org/10.1097/PAS.0000000000001237DOI Listing
February 2019
1 Read

Superior Mesenteric Artery Pseudoaneurysms in Patients With Familial Adenomatous Polyposis-Associated Intra-Abdominal Desmoids: Case Series.

Dis Colon Rectum 2019 Feb 14. Epub 2019 Feb 14.

Sanford R. Weiss, M.D., Center for Hereditary Colorectal Cancer, Department of Colorectal Surgery, Digestive Diseases, Cleveland Clinic Foundation, Cleveland, Ohio.

Background: Rupture of a superior mesenteric artery pseudoaneurysm is a rare but potentially lethal complication in patients with familial adenomatous polyposis and desmoid disease.

Objective: We report our experience in the management of such patients with a rare but significant and life-threatening condition.

Design: This is a descriptive study of a small series of patients. Read More

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http://dx.doi.org/10.1097/DCR.0000000000001359DOI Listing
February 2019
1 Read
3.749 Impact Factor

Large desmoid tumors in familial adenomatous polyposis: a successful outcome.

Autops Case Rep 2018 Oct-Dec;8(4):e2018045. Epub 2018 Sep 26.

Centro Hospitalar de São João, Department of Surgery. Porto, Portugal.

Desmoid tumors develop from connective tissue, fasciae, and aponeuroses, and may occur in the context of familial adenomatous polyposis or may arise sporadically; also, they may be extra-abdominal, intra-abdominal, or located in the abdominal wall. These benign tumors have a great aggressiveness with a high rate of local recurrence. Familial adenomatous polyposis is an inherited condition with autosomal dominant transmission, and is characterized by the development of multiple colonic and rectal adenomatous polyps, as well as desmoid tumors. Read More

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http://dx.doi.org/10.4322/acr.2018.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360820PMC
September 2018