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Familial polyposis

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https://www.readbyqxmd.com/read/28221248/early-transcriptomic-changes-in-the-ileal-pouch-provide-insight-into-the-molecular-pathogenesis-of-pouchitis-and-ulcerative-colitis
#1
Yong Huang, Sushila Dalal, Dionysios Antonopoulos, Nathaniel Hubert, Laura H Raffals, Kyle Dolan, Christopher Weber, Jeannette S Messer, Bana Jabri, Albert Bendelac, A Murat Eren, David T Rubin, Mitch Sogin, Eugene B Chang
BACKGROUND: Ulcerative colitis (UC) only involves the colonic mucosa. Yet, nearly 50% of patients with UC who undergo total proctocolectomy with ileal pouch anal anastomosis develop UC-like inflammation of the ileal pouch (pouchitis). By contrast, patients with familial adenomatous polyposis (FAP) with ileal pouch anal anastomosis develop pouchitis far less frequently. We hypothesized that pathogenic events associated with the development of UC are recapitulated by colonic-metaplastic transcriptomic reprogramming of the UC pouch...
March 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28197371/prophylactic-vaccination-targeting-erbb3-decreases-polyp-burden-in-a-mouse-model-of-human-colorectal-cancer
#2
David J Bautz, Ang T Sherpa, David W Threadgill
Prophylactic vaccination is typically utilized for the prevention of communicable diseases such as measles and influenza but, with the exception of vaccines to prevent cervical cancer, is not widely used as a means of preventing or reducing the incidence of cancer. Here, we utilize a peptide-based immunotherapeutic approach targeting ERBB3, a pseudo-kinase member of the EGFR/ERBB family of receptor tyrosine kinases, as a means of preventing occurrence of colon polyps. Administration of the peptide resulted in a significant decrease in the development of intestinal polyps in C57BL/6J-Apc(Min) mice, a model of familial adenomatous polyposis (FAP)...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/28185118/gastric-cancer-in-fap-a-concerning-rise-in-incidence
#3
Gautam Mankaney, Pamela Leone, Michael Cruise, Lisa LaGuardia, Margaret O'Malley, Amit Bhatt, James Church, Carol A Burke
The highest cancer risks in familial adenomatous polyposis (FAP) include colorectal, duodenal, and thyroid for which surveillance is recommended. Nearly all patients with FAP have gastric fundic gland polyposis (FGP), but gastric cancers are rarely reported with a similar incidence as the general population. We describe a recent, sudden increase in the incidence of gastric cancer in FAP. Seven of the ten cases were diagnosed in the last 20 months. Comparing our population to the SEER database for gastric cancer, the standardized incidence ratio is 140...
February 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28171690/endoscopic-submucosal-dissection-of-a-large-neoplastic-lesion-at-ileorectal-anastomosis-in-a-fap-patient
#4
Stefano Sansone, Takeshi Nakajima, Yutaka Saito
Endoscopic submucosal dissection (ESD) may remove gastrointestinal neoplasias even associated with severe fibrosis [1-3]. We report the first case of ESD for a large neoplasia located in the remnant rectum after total colectomy in a patient with familial adenomatous polyposis (FAP). A 19 year old female with FAP underwent total colectomy with ileorectal anastomosis (IRA). Fourteen years later a surveillance endoscopy revealed a 0-Is+IIa lesion, measuring 75mm, occupying the "dog ear" portion of the rectum and involving the IRA (fig 1a-b)...
February 7, 2017: Digestive Endoscopy: Official Journal of the Japan Gastroenterological Endoscopy Society
https://www.readbyqxmd.com/read/28141798/oxidative-dna-damage-induces-hypomethylation-in-a-compromised-base-excision-repair-colorectal-tumourigenesis
#5
Daniela Furlan, Davide Trapani, Enrico Berrino, Carla Debernardi, Mara Panero, Laura Libera, Nora Sahnane, Cristina Riva, Maria Grazia Tibiletti, Fausto Sessa, Anna Sapino, Tiziana Venesio
BACKGROUND: A compromised base excision repair (BER) promotes carcinogenesis by accumulating oxidative DNA-damaged products as observed in MUTYH-associated polyposis, a hereditary colorectal cancer syndrome marked by adenomas and cancers with an accumulation of 8-oxoguanine. Remarkably, DNA global demethylation has been shown to be mediated by BER, suggesting a relevant interplay with early colorectal tumourigenesis. To check this hypothesis, we investigated a cohort of 49 adenomas and 10 carcinomas, derived from 17 MUTYH-associated polyposis patients; as adenoma controls, we used a set of 36 familial adenomatous polyposis and 24 sporadic polyps...
January 31, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28134256/the-tumour-suppressor-apc-promotes-hiv-1-assembly-via-interaction-with-gag-precursor-protein
#6
Kei Miyakawa, Mayuko Nishi, Satoko Matsunaga, Akiko Okayama, Masaki Anraku, Ayumi Kudoh, Hisashi Hirano, Hirokazu Kimura, Yuko Morikawa, Naoki Yamamoto, Akira Ono, Akihide Ryo
Diverse cellular proteins and RNAs are tightly regulated in their subcellular localization to exert their local function. Here we report that the tumour suppressor adenomatous polyposis coli protein (APC) directs the localization and assembly of human immunodeficiency virus (HIV)-1 Gag polyprotein at distinct membrane components to enable the efficient production and spread of infectious viral particles. A proteomic analysis and subsequent biomolecular interaction assay reveals that the carboxyl terminus of APC interacts with the matrix region of Gag...
January 30, 2017: Nature Communications
https://www.readbyqxmd.com/read/28133351/-a-case-of-duodenal-papilla-cancer-22-years-after-total-proctocolectomy-for-familial-adenomatous-polyposis
#7
Takashi Takeda, Masakazu Miyake, Mamoru Uemura, Masataka Ikeda, Sakae Maeda, Kazuyoshi Yamamoto, Naoki Hama, Kazuhiro Nishikawa, Atsushi Miyamoto, Michihiko Miyazaki, Motohiro Hirao, Shoji Nakamori, Mitsugu Sekimoto
Familial adenomatous polyposis has an autosomal dominant pattern of inheritance. Colon cancer occurs frequently as a result of colorectal adenoma. The standard treatment is total proctocolectomy. However, it is reported that duodenal papilla cancer and desmoid tumors can also occur alongside colon cancer. We report a patient with duodenal papilla cancer who underwent total proctocolectomy 22 years previously. The patient was a 47-year-old man who had undergone a total proctocolectomy at the age of 25 years for familial adenomatous polyposis...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28133307/-a-case-of-familial-adenomatous-polyposis-with-a-desmoid-tumor-probably-communicating-to-the-intestinal-lumen-that-was-successfully-treated-with-non-surgical-therapy
#8
Tetsuya Ito, Noriyasu Chika, Azusa Yamamoto, Toshiro Ogura, Kunihiko Amano, Toru Ishiguro, Minoru Fukuchi, Youichi Kumagai, Keiichiro Ishibashi, Hidetaka Eguchi, Yasushi Okazaki, Erito Mochiki, Hideyuki Ishida
A 44-year-old man with familial adenomatous polyposis underwent laparoscopic-assistedtotal proctocolectomy with ilealpouch anal anastomosis(IPAA). Computed tomography conducted 21 months after IPAA demonstrated bilateral hydronephrosis andan intra-abdominal mass with a maximal diameter of 22 cm, leading to a diagnosis of stage IV desmoid disease, according to the classification by Church and associates. Six courses of combination chemotherapy with doxorubicin plus dacarbazine were administered. Computed tomography after chemotherapy demonstrated marked shrinkage of the desmoidtumor with intraabdominal air andfluidcollection extending just below the skin of the ileostomy closure site...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28130546/yap-il-6st-autoregulatory-loop-activated-on-apc-loss-controls-colonic-tumorigenesis
#9
Koji Taniguchi, Toshiro Moroishi, Petrus R de Jong, Michal Krawczyk, Britta Moyo Grebbin, Huiyan Luo, Rui-Hua Xu, Nicole Golob-Schwarzl, Caroline Schweiger, Kepeng Wang, Giuseppe Di Caro, Ying Feng, Eric R Fearon, Eyal Raz, Lukas Kenner, Henner F Farin, Kun-Liang Guan, Johannes Haybaeck, Christian Datz, Kang Zhang, Michael Karin
Loss of tumor suppressor adenomatous polyposis coli (APC) activates β-catenin to initiate colorectal tumorigenesis. However, β-catenin (CTNNB1) activating mutations rarely occur in human colorectal cancer (CRC). We found that APC loss also results in up-regulation of IL-6 signal transducer (IL-6ST/gp130), thereby activating Src family kinases (SFKs), YAP, and STAT3, which are simultaneously up-regulated in the majority of human CRC. Although, initial YAP activation, which stimulates IL6ST gene transcription, may be caused by reduced serine phosphorylation, sustained YAP activation depends on tyrosine phosphorylation by SFKs, whose inhibition, along with STAT3-activating JAK kinases, causes regression of established colorectal tumors...
January 27, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28127413/hereditary-cancer-syndromes-in-latino-populations-genetic-characterization-and-surveillance-guidelines
#10
REVIEW
Marcia Cruz-Correa, Julyann Pérez-Mayoral, Julie Dutil, Miguel Echenique, Rafael Mosquera, Keila Rivera-Román, Sharee Umpierre, Segundo Rodriguez-Quilichini, Maria Gonzalez-Pons, Myrta I Olivera, Sherly Pardo
Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some cancers. In Hispanics, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes such as, Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancer syndromes. Although the incidence of hereditary cancers is low, patients diagnosed with hereditary cancer syndromes are at high-risk for developing secondary cancers...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28105931/regulatory-single-nucleotide-polymorphisms-rsnps-at-the-promoters-1a-and-1b-of-the-human-apc-gene
#11
Marina Yu Matveeva, Elena V Kashina, Vasily V Reshetnikov, Leonid O Bryzgalov, Elena V Antontseva, Natalia P Bondar, Tatiana I Merkulova
BACKGROUND: Germline mutations in the coding sequence of the tumour suppressor APC gene give rise to familial adenomatous polyposis (which leads to colorectal cancer) and are associated with many other oncopathologies. The loss of APC function because of deletion of putative promoter 1A or 1B also results in the development of colorectal cancer. Since the regions of promoters 1A and 1B contain many single nucleotide polymorphisms (SNPs), the aim of this study was to perform functional analysis of some of these SNPs by means of an electrophoretic mobility shift assay (EMSA) and a luciferase reporter assay...
December 22, 2016: BMC Genetics
https://www.readbyqxmd.com/read/28105195/familial-adenomatous-polyposis-in-china
#12
Jun Yang, Qing Wei Liu, Liang Wen Li, Qiang Zhi Wang, Min Hong, Jian Dong
Familial adenomatous polyposis (FAP) is an autosomal dominant disease with a poor prognosis, and has been studied by clinicians and geneticists in China for the past three decades. It is estimated that FAP has an incidence of between 1 in 8,000 and 1 in 10,000 individuals, and accounts for 0.94% of colorectal cancer cases in China. Recent advances in the understanding of FAP suggest that the genotype of the patient may allow for early diagnosis and surveillance, and guide surgical and chemopreventive management...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28075483/detecting-apc-gene-mutations-in-familial-adenomatous-polyposis-fap
#13
Babi Ramesh Reddy Nallamilli, Madhuri Hegde
Hereditary forms of colorectal cancer (CRC) account for up to 5% of total cases. Familial adenomatous polyposis (FAP) is an autosomal dominant condition affecting nearly 1 in 5000 people and accounts for only about 1% of all CRCs. It is characterized by the progressive development of hundreds to thousands of adenomatous colon polyps. The gene associated with FAP (APC) contains 15 coding exons. The mutation spectrum of the APC gene is broad in that 87% of causative mutations are point mutations (including other sequence variants) and around 10% to 15% are intragenic deletions and duplications...
January 11, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/28039328/outcome-of-24%C3%A2-years-national-surveillance-in-different-hereditary-colorectal-cancer-subgroups-leading-to-more-individualised-surveillance
#14
Lars Joachim Lindberg, Steen Ladelund, Birgitte Lidegaard Frederiksen, Lars Smith-Hansen, Inge Bernstein
BACKGROUND: Individuals with hereditary non-polyposis colorectal cancer (HNPCC) have a high risk of colorectal cancer (CRC). The benefits of colonic surveillance in Lynch syndrome and Amsterdam-positive (familial CRC type X familial colorectal cancer type X (FCCTX)) families are clear; only the interval between colonoscopies is debated. The potential benefits for families not fulfilling the Amsterdam criteria are uncertain. The aim of this study was to compare the outcome of colonic surveillance in different hereditary subgroups and to evaluate the surveillance programmes...
December 30, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28035305/gardner-syndrome-associated-with-multiple-osteomas-intestinal-polyposis-and-epidermoid-cysts
#15
Kwang-Joon Koh, Ha-Na Park, Kyoung-A Kim
Gardner syndrome is known as a variant of familial adenomatous polyposis. This syndrome is characterized by multiple intestinal polyposes, osteomas, and epidermoid cysts. In addition, dental abnormalities include an increased frequency of multiple odontomas, as well as supernumerary and impacted teeth. The authors report the case of a 7-year-old male patient with Gardner syndrome. Radiographic findings revealed multiple osteomas in both sides of the maxilla, multiple diffuse enostoses in both jaws, and a complex odontoma in the left mandibular body...
December 2016: Imaging Science in Dentistry
https://www.readbyqxmd.com/read/28028343/cribriform-morular-variant-of-papillary-thyroid-carcinoma-cytomorphology-differential-diagnosis-and-diagnostic-implications-in-patients-with-adenomatous-polyposis-coli
#16
Amarathunga Ah Priyani, Shamika T Opatha, Nisayuri W Gunathilake, Menaka Ds Lokuhetty
Cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC), which has a better prognosis, is seen mostly in the setting of familial adenomatous polyposis (FAP). The cytomorphology of CMV-PTC is diverse; hence, it could be mistaken for other thyroid neoplasms with bad prognostic outcome. This case is of a 24-year-old female diagnosed with polyposis coli found to have thyroid nodules at screening ultrasonography. Aspirated thyroid smears were hypercellular with epithelial cells arranged in monolayer sheets, papillae with discohesion, and spindling of cells at the edges, cribriform clusters, and cell morules...
October 2016: Journal of Cytology
https://www.readbyqxmd.com/read/28018803/neonatal-gardner-fibroma-leads-to-detection-of-familial-adenomatous-polyposis-two-case-reports
#17
Mattias Schäfer, Martina Kadmon, Wolfgang Schmidt, Irmgard Treiber, Ute Moog, Christian Sutter, Maximilian Stehr
Gardner fibromas (GFs) have only recently been described as poorly circumscribed tumor-like lesions, which are exceedingly rare in children. GFs are associated with APC gene mutations and therefore with familial adenomatous polyposis (FAP). So far there is only very limited literature on GF in the neonatal period. We present two children with GF diagnosed at birth and subsequent FAP with very different clinical courses. In one case, the disease led to extensive surgery of the thoracic wall and detection of FAP in the father with the need of immediate proctocolectomy...
December 2016: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/28012326/a-case-report-of-desmoid-tumour-a-forgotten-aspect-of-fap
#18
Sarah Xuereb, Rachel Xuereb, Chiara Buhagiar, Jonathan Gauci, Claude Magri
INTRODUCTION: Desmoid tumours are locally aggressive tumours which are common in Familial Adenomatous Polyposis (FAP). PRESENTATION OF CASE: A 20-year old Familial Adenomatous Polyposis (FAP) patient presented with abdominal pain and distention. Abdominal imaging showed small bowel obstruction and hydronephrosis due to a pelvic mass. This mass showed significant enlargement on repeat imaging, and a diagnostic biopsy confirmed desmoid tumour. The mass was deemed unresectable and he was initially started on sulindac and raloxifene...
December 1, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28010732/the-effect-of-a-germline-mutation-in-the-apc-gene-on-%C3%AE-catenin-in-human-embryonic-stem-cells
#19
Nofar Yedid, Yael Kalma, Mira Malcov, Ami Amit, Revital Kariv, Michal Caspi, Rina Rosin-Arbesfeld, Dalit Ben-Yosef
BACKGROUND: Most cases of colorectal cancer (CRC) are initiated by inactivation mutations in the APC gene, which is a negative regulator of the Wnt-β-catenin pathway. Patients with familial adenomatous polyposis (FAP) inherit a germline mutation in one APC allele, and loss of the second allele leads to the development of polyps that will turn malignant if not removed. It is not fully understood which molecular mechanisms are activated by APC loss and when the loss of the second APC allele occurs...
December 23, 2016: BMC Cancer
https://www.readbyqxmd.com/read/28002446/the-agaricus-blazei-based-mushroom-extract-andosan%C3%A2-protects-against-intestinal-tumorigenesis-in-the-a-j-min-mouse
#20
Geir Hetland, Dag M Eide, Jon M Tangen, Mads H Haugen, Mohammad R Mirlashari, Jan E Paulsen
BACKGROUND: The novel A/J Min/+ mouse, which is a model for human Familial Adenomatous Polyposis (FAP), develops spontaneously multiple adenocarcinomas in the colon as well as in the small intestine. Agaricus blazei Murill (AbM) is an edible Basidiomycetes mushroom that has been used in traditional medicine against cancer and other diseases. The mushroom contains immunomodulating β-glucans and is shown to have antitumor effects in murine cancer models. Andosan™ is a water extract based on AbM (82%), but it also contains the medicinal Basidiomycetes mushrooms Hericeum erinaceus and Grifola frondosa...
2016: PloS One
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