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Familial polyposis

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https://www.readbyqxmd.com/read/29156563/wnt-inhibitory-activity-of-malus-pumila-miller-cv-annurca-and-malus-domestica-cv-limoncella-apple-extracts-on-human-colon-rectal-cells-carrying-familial-adenomatous-polyposis-mutations
#1
Gennaro Riccio, Maria Maisto, Sara Bottone, Nadia Badolati, Giovanni Battista Rossi, Gian Carlo Tenore, Mariano Stornaiuolo, Ettore Novellino
Inhibitors of the Wingless-related Integration site (WNT)/β-catenin pathway have recently been under consideration as potential chemopreventive agents against Familial Adenomatous Polyposis (FAP). This autosomal-dominant syndrome is caused by germline mutations in the gene coding for the protein APC and leads to hyperactivation of the WNT/β-catenin signaling pathway, uncontrolled intestinal cell proliferation and formation of adenocarcinomas. The aim of the present work was to: (i) test, on in vitro cultures of cells carrying FAP mutations and on ex vivo biopsies of FAP patients, the WNT inhibitory activity of extracts from two common southern Italian apples, Malus pumila Miller cv...
November 18, 2017: Nutrients
https://www.readbyqxmd.com/read/29149121/ethics-and-genetics-examining-a-crossroads-in-nursing-through-a-case-study%C3%A2
#2
Laura Curr Curr Beamer
BACKGROUND: The field of genetics and genomics is rapidly expanding, particularly in oncology. Genetics and genomics can lead to ethical concerns. Oncology nurses must balance the need for evidence-based oncology care with that of ethical care for patients and their family members. OBJECTIVES: The purpose of this article is to provide an overview of cancer genetics and ethics and their impact on oncology nurses, patients, and families. METHODS: A case study of familial adenomatous polyposis (FAP) is offered to illustrate the impact of a hereditary cancer syndrome on several generations of a family and ethical issues surrounding cancer genetics...
December 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29147895/routine-virtual-ileostomy-following-restorative-proctocolectomy-for-familial-adenomatous-polyposis
#3
Peter C Ambe, Hubert Zirngibl, Gabriela Möslein
BACKGROUND: Anastomotic leakage (AL) is the most feared complication in colorectal surgery. A diverting ileostomy is routinely used to prevent or reduce morbidity and mortality following AL. However, a diverting ileostomy cannot prevent AL. Besides, diverting ileostomy might be associated with relevant complications. Herein, we introduce the virtual ileostomy as an alternative to diverting ileostomy in patients undergoing restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) for familial adenomatous polyposis (FAP)...
November 16, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/29146522/germline-genetic-features-of-young-individuals-with-colorectal-cancer
#4
Elena M Stoffel, Erika Koeppe, Jessica Everett, Peter Ulintz, Mark Kiel, Jenae Osborne, Linford Williams, Kristen Hanson, Stephen B Gruber, Laura S Rozek
BACKGROUND & AIMS: The incidence of colorectal cancer (CRC) in individuals younger than 50 years old is increasing. We sought to ascertain the proportion of young CRC cases associated with genetic predisposition. METHODS: We performed a retrospective study of individuals diagnosed with CRC at an age younger than 50 years, evaluated by the clinical genetics service at a single tertiary care cancer center from 1998 through 2015. We collected data on patient histories, tumor phenotypes, and results of germline DNA sequencing...
November 12, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29141268/gastric-adenocarcinoma-and-proximal-polyposis-of-the-stomach-gapps-a-rare-recently-described-gastric-polyposis-syndrome-report-of-a-case
#5
Andrea Beer, Berthold Streubel, Reza Asari, Clemens Dejaco, Georg Oberhuber
In rare cases with multiple gastric polyps in the corpus and fundus, a recently described gastric polyposis syndrome called gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) has to be considered. We report on the findings in a patient fulfilling the criteria of this disease.A female patient born in 1977 underwent gastroscopy in 2005 due to recurrent abdominal pain. Endoscopy revealed more than 100 fundic gland polyps in the corpus and fundus. An ileocolonoscopy was inconspicuous. The patient did not take proton pump inhibitors...
November 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/29132333/oestrogen-receptor-beta-isoform-expression-in-sporadic-colorectal-cancer-familial-adenomatous-polyposis-and-progressive-stages-of-colorectal-cancer
#6
Paulo Roberto Stevanato Filho, Samuel Aguiar Júnior, Maria Dirlei Begnami, Hellen Kuasne, Ranyell Matheus Spencer, Wilson Toshihiko Nakagawa, Tiago Santoro Bezerra, Bruna Catin Kupper, Renata Maymi Takahashi, Mateus Barros Filho, Silvia Regina Rogatto, Ademar Lopes
BACKGROUND: Among the sex hormones, oestrogen may play a role in colorectal cancer, particularly in conjunction with oestrogen receptor-β (ERβ). The expression of ERβ isoform variants and their correlations with familial adenomatous polyposis (FAP) syndrome and sporadic colorectal carcinomas are poorly described. METHODS: This study aimed to investigate the expression levels of the ERβ1, ERβ2, ERβ4 and ERβ5 isoform variants using quantitative RT-PCR (921 analyses) in FAP, normal mucosa, adenomatous polyps and sporadic colorectal carcinomas...
November 13, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29125801/laparoscopic-versus-open-restorative-proctocolectomy-for-familial-adenomatous-polyposis
#7
Fábio Guilherme Campos, Carlos Augusto Real Martinez, Mariane Gouveia Monteiro de Camargo, Daniele Menezes Cesconetto, Sérgio Carlos Nahas, Ivan Cecconello
PURPOSE: This study compared outcomes after laparoscopic (LAP) or conventional (open) total proctocolectomy with outcomes after ileal J-pouch anal anastomosis (IPAA) at a single institution. METHODS: Charts from 133 familial adenomatous polyposis patients (1997-2013) were reviewed. Demographic data (age, sex, color, American Society of Anesthesiologists [ASA] status, previous surgery, and body mass index) and surgical outcomes (length of stay, early and late morbidity, reoperation, and mortality rates) were compared among 63 patients undergoing IPAA...
November 10, 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/29122597/upper-gi-involvement-in-children-with-familial-adenomatous-polyposis-syndrome-single-center-experience-and-meta-analysis-of-the-literature
#8
Luz H Gutierrez Sanchez, Mouaz Alsawas, Michael Stephens, Mohammad Hassan Murad, Imad Absah
BACKGROUND AND AIMS: Familial adenomatous polyposis (FAP) is a hereditary syndrome that can affect the entire GI tract. Current screening recommendations include esophagogastroduodenoscopy (EGD) starting at age 25 to 30 years or earlier in symptomatic patients. However, there are few reports describing upper GI tract involvement in children with FAP which support the notion of early screening. The aim of our study is to understand the prevalence and severity of upper GI involvement in children with FAP...
November 6, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29112017/neoplastic-lesions-of-gastric-adenocarcinoma-and-proximal-polyposis-syndrome-gapps-are-gastric-phenotype
#9
Willem B de Boer, Hooi Ee, Marian P Kumarasinghe
Neoplastic lesions of gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) are gastric phenotype. GAPPS was reported in 2011 as a new autosomal dominant gastric polyposis syndrome characterized by involvement of the gastric body/fundus with sparing of the antrum by multiple polyps, reported to be primarily fundic gland polyps (FGPs), with progression to dysplasia and adenocarcinoma of intestinal type. Our series consists of 51 endoscopic biopsies and 5 gastrectomy specimens from 25 patients belonging to a previously defined GAPPS family...
November 3, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29109117/chemoprevention-with-cyclooxygenase-and-epidermal-growth-factor-receptor-inhibitors-in-familial-adenomatous-polyposis-patients-mrna-signatures-of-duodenal-neoplasia
#10
Don A Delker, Austin C Wood, Angela K Snow, N Jewel Samadder, Wade S Samowitz, Kajsa E Affolter, Kenneth M Boucher, Lisa M Pappas, Inge J Stijleman, Priyanka Kanth, Kathryn R Byrne, Randall W Burt, Philip S Bernard, Deborah W Neklason
To identify gene expression biomarkers and pathways targeted by sulindac and erlotinib given in a chemoprevention trial with a significant decrease in duodenal polyp burden at 6 months (P < 0.001) in familial adenomatous polyposis (FAP) patients, we biopsied normal and polyp duodenal tissues from patients on drug versus placebo and analyzed the RNA expression. RNA sequencing was performed on biopsies from the duodenum of FAP patients obtained at baseline and 6-month endpoint endoscopy. Ten FAP patients on placebo and 10 on sulindac and erlotinib were selected for analysis...
November 6, 2017: Cancer Prevention Research
https://www.readbyqxmd.com/read/29105096/nthl1-and-mutyh-polyposis-syndromes-two-sides-of-the-same-coin
#11
REVIEW
Robbert D A Weren, Marjolijn J L Ligtenberg, Ad Geurts van Kessel, Richarda M De Voer, Nicoline Hoogerbrugge, Roland P Kuiper
It is well-established now that germline genomic aberrations can underlie high-penetrant familial polyposis and colorectal cancer syndromes, but a genetic cause has not yet been found for the major proportion of patients with polyposis. Since next generation sequencing has become widely accessible, several novel, but rare, high-penetrant risk factors for adenomatous polyposis have been identified, all operating in pathways responsible for genomic maintenance and DNA repair. One of these is the base excision repair (BER) pathway...
November 3, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/29103540/emerging-concepts-in-gastric-neoplasia-heritable-gastric-cancers-and-polyposis-disorders
#12
REVIEW
Rachel S van der Post, Fátima Carneiro
Hereditary gastric cancer is a relatively rare disease with specific clinical and histopathologic characteristics. Hereditary gastric cancer of the diffuse type is predominantly caused by germline mutations in CDH1. The inherited cause of familial intestinal gastric cancer is unknown. Gastric adenocarcinoma and proximal polyposis of the stomach is a hereditary cancer syndrome caused by germline mutations in promoter 1B of APC. Other well-defined cancer syndromes, such as Lynch, Li-Fraumeni, and hereditary breast or ovarian cancer syndromes, are associated with increased risk of gastric cancer...
December 2017: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/29100425/promoter-methylation-of-tumor-related-genes-as-a-potential-biomarker-using-blood-samples-for-gastric-cancer-detection
#13
Jinfeng Wen, Tuo Zheng, Kefeng Hu, Chunxia Zhu, Lihua Guo, Guoliang Ye
Gene promoter methylation has been reported in gastric cancer (GC). However, the potential applications of blood-based gene promoter methylation as a noninvasive biomarker for GC detection remain to be evaluated. Hence, we performed this analysis to determine whether promoter methylation of 11 tumor-related genes could become a promising biomarker in blood samples in GC. We found that the cyclin-dependent kinase inhibitor 2A (p16), E-cadherin (CDH1), runt-related transcription factor 3 (RUNX3), human mutL homolog 1 (MLH1), RAS association domain family protein 1A (RASSF1A), cyclin-dependent kinase inhibitor 2B (p15), adenomatous polyposis coli (APC), Glutathione S-transferase P1 (GSTP1), TP53 dependent G2 arrest mediator candidate (Reprimo), and O6-methylguanine-DNAmethyl-transferase (MGMT) promoter methylation was notably higher in blood samples of patients with GC compared with non-tumor controls...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29099467/genotype-phenotype-associations-of-apc-mutations-with-pouch-adenoma-in-patients-with-familial-adenomatous-polyposis
#14
Revital Kariv, Guy Rosner, Naomi Fliss-Isakov, Nathan Gluck, Adam Goldstein, Hagit Tulchinsky, Shira Zelber-Sagi
BACKGROUND: Patients with familial adenomatous polyposis (FAP) may carry various adenomatous polyposis coli (APC) mutations. However, genotype-phenotype correlation for APC mutations is still debated and is yet to be evaluated with regard to pouch polyp formation. OBJECTIVE: To evaluate the association between APC mutation type and exon location and the outcome of pouch adenoma. DESIGN SETTING AND PATIENTS: Forty-five FAP patients with defined pathogenic APC mutations, who underwent total proctocolectomy and ileal pouch anal anastomosis were classified by mutation type and location...
November 3, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/29095867/role-of-galnt12-in-the-genetic-predisposition-to-attenuated-adenomatous-polyposis-syndrome
#15
Víctor Lorca, Daniel Rueda, Lorena Martín-Morales, Carmen Poves, María Jesús Fernández-Aceñero, Clara Ruiz-Ponte, Patricia Llovet, David Marrupe, Vanesa García-Barberán, Beatriz García-Paredes, Pedro Pérez-Segura, Miguel de la Hoya, Eduardo Díaz-Rubio, Trinidad Caldés, Pilar Garre
The involvement of GALNT12 in colorectal carcinogenesis has been demonstrated but it is not clear to what extent it is implicated in familial CRC susceptibility. Partially inactivating variant, NM_024642.4:c.907G>A, p.(D303N), has been previously detected in familial CRC and proposed as the causative risk allele. Since phenotypes of the described carrier families showed not only CRC but also a polyp history, we hypothesized that GALNT12 could be involved in adenoma predisposition and consequently, in hereditary polyposis CRC syndromes...
2017: PloS One
https://www.readbyqxmd.com/read/29076875/ovarian-microcystic-stromal-tumors-are-characterized-by-alterations-in-the-beta-catenin-apc-pathway-and-may-be-an-extracolonic-manifestation-of-familial-adenomatous-polyposis
#16
(no author information available yet)
No abstract text is available yet for this article.
October 26, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29075846/postoperative-outcome-and-quality-of-life-after-surgery-for-fap-associated-duodenal-adenomatosis
#17
Petra Ganschow, Thilo Hackert, Marcel Biegler, Pietro Contin, Ulf Hinz, Markus W Büchler, Martina Kadmon
INTRODUCTION: Prophylactic colon surgery has increased life expectancy of familial adenomatous polyposis patients. Extracolonic manifestations are life limiting, above all duodenal adenomas. Severe duodenal adenomatosis or cancer may necessitate pancreas-preserving total duodenectomy or partial pancreatico-duodenectomy, mostly after previous proctocolectomy and often after limited local resections of duodenal adenomas. Scarce information on long-term postoperative outcome and quality of life after surgery for duodenal adenomatosis is available...
October 26, 2017: Langenbeck's Archives of Surgery
https://www.readbyqxmd.com/read/29055690/application-of-digital-pcr-with-chip-in-a-tube-format-to-analyze-adenomatous-polyposis-coli-apc-somatic-mosaicism
#18
Tomoaki Kahyo, Moriya Iwaizumi, Hidetaka Yamada, Hong Tao, Kiyotaka Kurachi, Haruhiko Sugimura
BACKGROUND: Over the past decade, digital PCR (dPCR) technology has significantly improved, and its application in clinical diagnostics is rapidly advancing. The Clarity™ dPCR platform, which employs the chip-in-a-tube format to broaden its range of applications, has been used to determine gene copy number. However, detection of mutations in human samples, the most demanding task in clinical practice, has not yet been reported using this platform. METHODS: The Clarity™ dPCR platform was used to detect somatic Adenomatous polyposis coli mosaicism c...
October 18, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29049337/factors-affecting-pouch-related-outcomes-after-restorative-proctocolectomy
#19
Gyoung Tae Noh, Jeonghee Han, Min Soo Cho, Hyuk Hur, Byung Soh Min, Kang Young Lee, Nam Kyu Kim
PURPOSES: Restorative proctocolectomy (RPC) with ileal pouch anal anastomosis (IPAA) is the procedure of choice for patients with familial adenomatous polyposis (FAP) and ulcerative colitis (UC) despite morbidities that can lead to pouch failure. We aimed to identify factors associated with pouch-related morbidities. METHODS: A retrospective analysis of patients who underwent RPC with IPAA was performed. To investigate the factors associated with pouch-related morbidities, patients' preoperative demographic and clinical factors, and intraoperative factors were included in the analysis...
2017: PloS One
https://www.readbyqxmd.com/read/29027306/fenton-reaction-induced-renal-carcinogenesis-in-mutyh-deficient-mice-exhibits-less-chromosomal-aberrations-than-the-rat-model
#20
Guang Hua Li, Shinya Akatsuka, Shan Hwu Chew, Li Jiang, Takahiro Nishiyama, Akihiko Sakamoto, Takashi Takahashi, Mitsuru Futakuchi, Hiromu Suzuki, Kunihiko Sakumi, Yusaku Nakabeppu, Shinya Toyokuni
Oxidative stress including iron excess has been associated with carcinogenesis. The level of 8-oxoguanine, a major oxidatively modified base in DNA, is maintained very low by three distinct enzymes, encoded by OGG1, MUTYH and MTH1. Germline biallelic inactivation of MUTYH represents a familial cancer syndrome called MUTYH-associated polyposis. Here, we used Mutyh-deficient mice to evaluate renal carcinogenesis induced by ferric nitrilotriacetate (Fe-NTA). Although the C57BL/6 background is cancer-resistant, a repeated intraperitoneal administration of Fe-NTA induced a high incidence of renal cell carcinoma (RCC; 26...
October 13, 2017: Pathology International
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