11,146 results match your criteria Familial Adenomatous Polyposis


Expression of Parkin, APC, APE1, and Bcl-xL in Colorectal Polyps.

J Histochem Cytochem 2021 Jun 15:221554211026296. Epub 2021 Jun 15.

Universidade Estadual de Ponta Grossa, Ponta Grossa, Brazil.

Colorectal cancer can develop through molecular, chromosomal, and epigenetic cumulative changes that transform the normal intestinal epithelium into the colorectal polyps, called conventional adenomas (CAs) or serrated polyps (SPs), recognized as precursors of invasive colorectal neoplasia. These benign lesions need to explore the morphology, histological diagnosis, and biomarkers profile to accurately characterize lesions with potential for evolution to cancer. This study aimed to correlate the immunohistochemical expression of Parkin and Adenomatous Polyposis Coli (APC; tumor suppressors), Human Apurinic/Apyrimidinic endonuclease 1 (APE1), and B-cell lymphoma-extra-large (Bcl-xL; oncogenic proteins) in sporadic colorectal polyps with clinical, endoscopic, and diagnostic data. Read More

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APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients.

Int J Clin Oncol 2021 Jun 9. Epub 2021 Jun 9.

Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama, Japan.

Background: Familial adenomatous polyposis (FAP), an autosomal dominant disorder characterized by multiple colonic polyps, is caused by a germline pathogenic variant of the APC gene. However, this variant is not detected in up to 30% of patients with the adenomatous polyposis phenotype.

Methods: We performed next-generation sequencing (NGS) to identify the causative genes in FAP patients with 10 or more polyps. Read More

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Microencapsulated and in Combination with Quercetin Inhibit Colorectal Cancer Development in Apc Mice.

Int J Mol Sci 2021 May 5;22(9). Epub 2021 May 5.

Laboratory of Animal Physiology and Nutrition, School of Agronomy, Public University of Navarre, Campus Arrosadia, 31006 Pamplona, Spain.

Recent studies have suggested that flavonoids such as quercetin and probiotics such as () and () could play a relevant role in inhibiting colon cancer cell growth. Our study investigated the role of dietary supplementation with microencapsulated probiotics ( and ) along with quercetin in the development of mouse colorectal cancer (CRC). Methods: Adenomatous polyposis coli/multiple intestinal neoplasia (Apc) mice were fed a standard diet or the same diet supplemented with microencapsulated probiotics ( and strains, 10 CFU/100 g food) or both probiotics strains plus microencapsulated quercetin (15 mg/100 g food) for 73 days. Read More

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"De novo" familial adenomatous polyposis (FAP) presenting as rectal cancer.

Clin Case Rep 2021 May 5;9(5):e04106. Epub 2021 May 5.

Department of Surgery Nil Ratan Sarkar Medical College Hospital Kolkata India.

Familial adenomatous polyposis is an autosomal dominant disorder with familial predisposition. 25%-30% cases arise "de novo," without any clinical or genetic evidence. Read More

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Activity of Arhgef4 is modulated through Staufen1 in neurons.

Neurosci Lett 2021 06 19;756:135962. Epub 2021 May 19.

Department of Medicine and Microbiology, Graduate Program in Neuroscience, College of Medicine, Chungbuk National University, Cheongju 28644, Republic of Korea. Electronic address:

The role of Arhgef4, also known as adenomatous polyposis coli (APC)-stimulated guanine nucleotide exchange factor 1 (Asef1), has been identified in colorectal cancers. Interestingly, Arhgef4 is more highly expressed in brain regions than intestinal regions, suggesting a role in neurons. In our previous study, we reported that Arhgef4 negatively regulates the level of PSD-95 in excitatory post-synaptic regions by binding with Staufen1. Read More

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Torpedo-like lesions in the ocular fundi of Gardner syndrome: hiding in plain view.

Ophthalmic Genet 2021 May 20:1-7. Epub 2021 May 20.

Wilmer Eye Institute, Johns Hopkins Hospital, Baltimore, Maryland, USA.

The coexistence of fundus torpedoes and Gardner syndrome was initially reported in 1989 and 1992 by Gass and Roseman. Gardner syndrome is a dominantly inherited disease characterized by a multitude of potentially lethal gastrointestinal polyps. Over the ensuing quarter century, several publications demonstrated uncommon, but easily recognized, fundus lesions called Torpedo Maculopathy in apparently normal individuals. Read More

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The Transcriptomic Landscape of Mismatch Repair-Deficient Intestinal Stem Cells.

Cancer Res 2021 May 18;81(10):2760-2773. Epub 2021 Mar 18.

Department of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, Texas.

Lynch syndrome is the most common cause of hereditary colorectal cancer and is secondary to germline alterations in one of four DNA mismatch repair (MMR) genes. Here we aimed to provide novel insights into the initiation of MMR-deficient (MMRd) colorectal carcinogenesis by characterizing the expression profile of MMRd intestinal stem cells (ISC). A tissue-specific MMRd mouse model (Villin-Cre;Msh2 ) was crossed with a reporter mouse () to trace and isolate ISCs (Lgr5+) using flow cytometry. Read More

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Screening for Colorectal Cancer: US Preventive Services Task Force Recommendation Statement.

JAMA 2021 05;325(19):1965-1977

Tufts University School of Medicine, Boston, Massachusetts.

Importance: Colorectal cancer is the third leading cause of cancer death for both men and women, with an estimated 52 980 persons in the US projected to die of colorectal cancer in 2021. Colorectal cancer is most frequently diagnosed among persons aged 65 to 74 years. It is estimated that 10. Read More

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Early Development of Colonic Adenocarcinoma With Minimal Polyposis in a Young Child With Metastatic Hepatoblastoma and Germline APC Mutation.

J Pediatr Hematol Oncol 2021 May 18. Epub 2021 May 18.

Departments of Paediatrics and Adolescent Medicine Surgery Pathology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China.

Germline adenomatous polyposis coli (APC) gene mutation is a cancer-predisposing condition commonly presenting as familial adenomatous polyposis. We describe a patient first diagnosed at the age of 3 years with metastatic hepatoblastoma. With a positive family history, germline testing confirmed maternally inherited APC mutation (p. Read More

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Pancreas-Preserving Total Duodenectomy: A Systematic Review.

Dig Surg 2021 17;38(3):186-197. Epub 2021 May 17.

Department of Surgery, Instituto de Investigación Sanitaria Aragón, Miguel Servet University Hospital, Zaragoza, Spain.

Background: The management of the pancreas in patients with duodenal trauma or duodenal tumors remains a controversial issue. Pancreas-preserving total duodenectomy (PPTD) requires a meticulous surgical technique. The most common indication is familial duodenal adenomatous polyposis (FAP). Read More

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Regulation of Wnt Receptor Activity: Implications for Therapeutic Development in Colon Cancer.

J Biol Chem 2021 May 14:100782. Epub 2021 May 14.

Department of Cell Biology, Van Andel Institute, Grand Rapids, MI. Electronic address:

Hyperactivation of Wnt/β-catenin (canonical) signaling in colorectal cancers (CRCs) was identified in the 1990s. Most CRC patients have mutations in genes that encode components of the Wnt pathway. Inactivating mutations in the adenomatous polyposis coli (APC) gene, which encodes a protein necessary for β-catenin degradation, are by far the most prevalent. Read More

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Colon Crypts of Subjects With Familial Adenomatous Polyposis Show an Increased Number of LGR5+ Ectopic Stem Cells.

Clin Transl Gastroenterol 2021 May 17;12(5):e00353. Epub 2021 May 17.

Center for Public Health Genomics, Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia, USA.

Introduction: Familial adenomatous polyposis (FAP) is a hereditary colorectal cancer (CRC) syndrome characterized by accelerated adenoma development due to inherited (or de novo) mutations in the APC regulator of WNT signaling pathway (APC) gene. The mechanism underlying this accelerated polyp development in subjects with FAP has not been defined. Given that LGR5+ stem cells drive crypt cell proliferation, we hypothesized that FAP crypts would demonstrate aberrant leucine-rich repeat-containing G-protein-coupled receptor 5 (LGR5) staining patterns. Read More

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Presentation, management and outcomes of ileoanal pouch cancer: a single centre experience.

Colorectal Dis 2021 May 15. Epub 2021 May 15.

St Mark's Hospital, Harrow, UK.

Aim: This study aimed to determine the clinical presentation, management and outcomes for patients with ileoanal pouch cancer.

Method: Patients who were diagnosed with ileoanal pouch cancer were identified from our polyposis registry (1978 - 2019) and operative and referral records (2006 - 2019). Details of presentation, endoscopic surveillance, cancer staging and management were retrieved from hospital records. Read More

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Zebrafish Cancer Predisposition Models.

Front Cell Dev Biol 2021 27;9:660069. Epub 2021 Apr 27.

Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.

Cancer predisposition syndromes are rare, typically monogenic disorders that result from germline mutations that increase the likelihood of developing cancer. Although these disorders are individually rare, resulting cancers collectively represent 5-10% of all malignancies. In addition to a greater incidence of cancer, affected individuals have an earlier tumor onset and are frequently subjected to long-term multi-modal cancer screening protocols for earlier detection and initiation of treatment. Read More

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Cutaneous desmoid-type fibromatosis: a rare case with molecular profiling.

J Cutan Pathol 2021 May 12. Epub 2021 May 12.

Department of Pathology, Stanford University, Stanford, California.

Fibromatoses encompass a broad group of histopathologically similar fibroblastic/myofibroblastic proliferations with divergent clinical manifestations and behavior. Deep (desmoid-type) fibromatoses are typically large, rapidly growing, and locally aggressive tumors that occur in the abdominal wall, mesentery, and extraabdominal soft tissue, principally the musculature of the trunk and extremities. Most sporadic cases of desmoid fibromatosis harbor inactivating mutations in CTNNB1, the gene encoding beta-catenin. Read More

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Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) - A Helicobacter-opposite point.

Best Pract Res Clin Gastroenterol 2021 Mar-Apr;50-51:101728. Epub 2021 Feb 15.

2nd Department of Internal Medicine - Gastroenterology, Charles University, Faculty of Medicine in Hradec Kralove and University Hospital Hradec Kralove, Czech Republic; The Royal Marsden Hospital NHS Foundation Trust, London, United Kingdom.

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare familial gastric cancer syndrome with an autosomal dominant pattern of inheritance. It is characterised by fundic gland polyposis of the gastric body and is associated with a significant risk of gastric adenocarcinoma. Unlike sporadic gastric cancer, Helicobacter pylori is usually absent in patients with GAPPS. Read More

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Endoplasmic reticulum stress regulates the intestinal stem cell state through CtBP2.

Sci Rep 2021 May 10;11(1):9892. Epub 2021 May 10.

Department of Gastroenterology and Hepatology, Amsterdam Gastroenterology and Metabolism, Tytgat Institute for Liver and Intestinal Research, Amsterdam UMC, University of Amsterdam, Meibergdreef 69-71, Amsterdam, The Netherlands.

Enforcing differentiation of cancer stem cells is considered as a potential strategy to sensitize colorectal cancer cells to irradiation and chemotherapy. Activation of the unfolded protein response, due to endoplasmic reticulum (ER) stress, causes rapid stem cell differentiation in normal intestinal and colon cancer cells. We previously found that stem cell differentiation was mediated by a Protein kinase R-like ER kinase (PERK) dependent arrest of mRNA translation, resulting in rapid protein depletion of WNT-dependent transcription factor c-MYC. Read More

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Advances and Insights of APC-Asef Inhibitors for Metastatic Colorectal Cancer Therapy.

Front Mol Biosci 2021 22;8:662579. Epub 2021 Apr 22.

Department of Pathophysiology, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

In Colorectal cancer (CRC), adenomatous polyposis coli (APC) directly interacts with the Rho guanine nucleotide exchange factor 4 (Asef) and releases its GEF activity. Activated Asef promotes the aberrant migration and invasion of CRC cell through a CDC42-mediated pathway. Knockdown of either APC or Asef significantly decreases the migration of CRC cells. Read More

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TP53-Activated lncRNA GHRLOS Regulates Cell Proliferation, Invasion, and Apoptosis of Non-Small Cell Lung Cancer by Modulating the miR-346/APC Axis.

Front Oncol 2021 21;11:676202. Epub 2021 Apr 21.

School of Laboratory Medicine/Sichuan Provincial Engineering Laboratory for Prevention and Control Technology of Veterinary Drug Residue in Animal-origin Food, Chengdu Medical College, Chengdu, China.

Non-small cell lung cancer (NSCLC) is the main type of lung cancer with high mortality worldwide. To improve NSCLC therapy, the exploration of molecular mechanisms involved in NSCLC progression and identification of their potential therapy targeting is important. Long noncoding RNAs (lncRNAs) have shown important roles in regulating various tumors progression, including NSCLC. Read More

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Promoter Methylation in Gastrointestinal Cancer.

Front Oncol 2021 23;11:653222. Epub 2021 Apr 23.

Department of Medical Oncology, Key Laboratory of Cancer Prevention and Intervention, Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

The adenomatous polyposis coli () gene, known as tumor suppressor gene, has the two promoters 1A and 1B. Researches on have usually focused on its loss-of-function variants causing familial adenomatous polyposis. Hypermethylation, however, which is one of the key epigenetic alterations of the CpG sequence, is also associated with carcinogenesis in various cancers. Read More

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Incidence and Management of Rectal Cuff and Anal Transitional Zone Neoplasia in Patients with Familial Adenomatous Polyposis.

Dis Colon Rectum 2021 Apr 29. Epub 2021 Apr 29.

Cleveland Clinic, Cleveland, Ohio.

Background: Rectal cuff and anal transitional zone neoplasia is an increasing challenge in patients with familial adenomatous polyposis who have undergone restorative proctocolectomy. Its real incidence, range of severity, and treatment efficacy are poorly documented.

Objective: We sought to document the evolution of rectal cuff and anal transitional zone neoplasia and describe its management. Read More

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Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype.

Can J Gastroenterol Hepatol 2021 12;2021:6610434. Epub 2021 Apr 12.

Shengli Clinical Medical College of Fujian Medical University, Fuzhou 350001, China.

A large number of colorectal cancers have a genetic background in China. However, due to insufficient awareness, the diagnostic rate remains low and merely 5-6% of colorectal cancer patients are diagnosed with hereditary colorectal cancer. Familial adenomatous polyposis (FAP) is an autosomal dominant genetic disease caused by mutations in the adenomatous polyposis coli (APC) gene. Read More

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Assessment of circulating microRNA specific for patients with familial adenomatous polyposis.

PLoS One 2021 4;16(5):e0250072. Epub 2021 May 4.

Division of Lower GI Surgery, Department of Surgery, Hyogo College of Medicine, Hyogo, Japan.

Circulating microRNAs (miRNAs) are considered promising biomarkers for diagnosis, prognosis, and treatment efficacy of diseases. However, usefulness of circulating miRNAs as biomarkers for hereditary gastrointestinal diseases have not been confirmed yet. We explored circulating miRNAs specific for patients with familial adenomatous polyposis (FAP) as a representative hereditary gastrointestinal disease. Read More

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Cribiform-morular variant of papillary thyroid carcinoma and familial adenomatous polyposis: Report of a case.

Acta Biomed 2021 04 30;92(S1):e2021153. Epub 2021 Apr 30.

General Surgery Unit, Parma University Hospital, Italy .

Cribiform-morular thyroid carcinoma is a rare variant of papillary thyroid carcinoma. It is usually related to Familial Adenomatous Polyposis (FAP) but rarely it may be sporadic. This variant of PTC occurs in young females and it is rare in the elderly. Read More

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Successful Closure of the Tip of the "J" Fistula of the Ileal Pouch With Double Over-the-Scope Clips.

ACG Case Rep J 2021 Apr 26;8(4):e00566. Epub 2021 Apr 26.

Center for Inflammatory Bowel Disease, Columbia University Irving Medical Center-New York Presbyterian Hospital, NY.

Ileal pouch-anal anastomosis is the surgical procedure of choice for patients who require colectomy for complicated ulcerative colitis with or without associated dysplasia and familial adenomatous polyposis. Leaks from the suture lines or anastomosis can lead to pouch failure. Treatment options have been radiographic drainage and surgical intervention. Read More

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CD36 polymorphisms and the age of disease onset in patients with pathogenic variants within the mutation cluster region of APC.

Hered Cancer Clin Pract 2021 Apr 29;19(1):25. Epub 2021 Apr 29.

School of Biomedical Sciences, Faculty of Health, University of Newcastle, Callaghan Campus, NSW, 2308, Newcastle, Australia.

Background: Familial adenomatous polyposis (FAP) is an autosomal dominant condition that predisposes patients to colorectal cancer. FAP is the result of a loss of APC function due to germline pathogenic variants disrupting gene expression. Genotype-phenotype correlations are described for FAP. Read More

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Discovering the Mutational Profile of Early Colorectal Lesions: A Translational Impact.

Cancers (Basel) 2021 Apr 25;13(9). Epub 2021 Apr 25.

Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy.

Colorectal cancer (CRC) develops through a multi-step process characterized by the acquisition of multiple somatic mutations in oncogenes and tumor-suppressor genes, epigenetic alterations and genomic instability. These events lead to the progression from precancerous lesions to advanced carcinomas. This process requires several years in a sporadic setting, while occurring at an early age and or faster in patients affected by hereditary CRC-predisposing syndromes. Read More

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Small Bowel Epithelial Precursor Lesions: A Focus on Molecular Alterations.

Int J Mol Sci 2021 Apr 22;22(9). Epub 2021 Apr 22.

Department of Internal Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, 27100 Pavia, Lombardy, Italy.

The wider use of gastrointestinal endoscopic procedures has led to an increased detection of small intestinal preneoplastic and neoplastic epithelial lesions, most of which are identified in the duodenum and ampullary region. Like their malignant counterparts, small intestinal glandular precursor lesions, which include adenomas and hamartomas, may arise sporadically or be associated with hereditary tumor syndromes, such as familial adenomatous polyposis, -associated polyposis, Lynch syndrome, Peutz-Jeghers syndrome, juvenile polyposis syndrome, and Cowden syndrome. In addition, dysplastic, preinvasive lesions have been observed adjacent to small bowel adenocarcinomas complicating immune-related disorders, such as celiac or Crohn's disease. Read More

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Trabecular and cortical mandibular bone investigation in familial adenomatous polyposis patients.

Sci Rep 2021 Apr 28;11(1):9143. Epub 2021 Apr 28.

Health Sciences Faculty, University of Brasília, Brasília, Brazil.

Mandibular cortical and trabecular bone abnormalities in patients with familial adenomatous polyposis (FAP) were evaluated using dental panoramic radiographs (DPR) radiomorphometric indices and fractal dimension (FD). Sixty DPRs from 15 FAP patients and 45 healthy controls were evaluated. FAP group was composed of 33. Read More

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Transition state analogue of MTAP extends lifespan of APC mice.

Sci Rep 2021 Apr 23;11(1):8844. Epub 2021 Apr 23.

Department of Biochemistry, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.

A mouse model of human Familial Adenomatous Polyposis responds favorably to pharmacological inhibition of 5'-methylthioadenosine phosphorylase (MTAP). Methylthio-DADMe-Immucillin-A (MTDIA) is an orally available, transition state analogue inhibitor of MTAP. 5'-Methylthioadenosine (MTA), the substrate for MTAP, is formed in polyamine synthesis and is recycled by MTAP to S-adenosyl-L-methionine (SAM) via salvage pathways. Read More

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