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Family adenomatous polyposis

Laura Valle
The development of genome-wide massively parallel sequencing, i.e. whole-genome and whole-exome sequencing, and copy number approaches had raised high expectations for the identification of novel hereditary colorectal cancer genes. Although relatively successful for genes causing adenomatous polyposis syndromes, both autosomal dominant and recessive, the identification of genes associated with hereditary non-polyposis colorectal cancer has proven extremely challenging, mainly due to the absence of major high penetrance genes and the difficulty in demonstrating the functional impact of the identified variants and their causal association with tumor development...
October 3, 2016: Clinical Gastroenterology and Hepatology
Worawan Kunotai, Panjit Ananpornruedee, Mark Lubinsky, Apitchaya Pruksametanan, Piranit Nik Kantaputra
A Thai mother and her two daughters were affected with tricho-rhino-phalangeal syndrome type I. The daughters had 15 and 18 supernumerary teeth, respectively. The mother had normal dentition. Mutation analysis of TRPS1 showed a novel heterozygous c.3809_3811delACTinsCATGTTGTG mutation in all. This mutation is predicted to cause amino acid changes in the Ikaros-like zinc finger domain near the C-terminal end of TRPS1, which is important for repressive protein function. The results of our study and the comprehensive review of the literature show that pathways of forming supernumerary teeth appear to involve APC and RUNX2, the genes responsible for familial adenomatous polyposis syndrome and cleidocranial dysplasia, respectively...
October 5, 2016: American Journal of Medical Genetics. Part A
Furkan U Ertem, Wenqian Zhang, Kyle Chang, Wan Mohaiza Dashwood, Praveen Rajendran, Deqiang Sun, Ala Abudayyeh, Eduardo Vilar, Maen Abdelrahim, Roderick H Dashwood
Intervention strategies in familial adenomatous polyposis (FAP) patients and other high-risk colorectal cancer (CRC) populations have highlighted a critical need for endoscopy combined with safe and effective preventive agents. We performed transcriptome profiling of colorectal adenomas from FAP patients and the polyposis in rat colon (Pirc) preclinical model, and prioritized molecular targets for prevention studies in vivo. At clinically relevant doses in the Pirc model, the drug Clotam (tolfenamic acid, TA) was highly effective at suppressing tumorigenesis both in the colon and in the small intestine, when administered alone or in combination with Sulindac...
October 5, 2016: International Journal of Cancer. Journal International du Cancer
Monica Marabelli, Valeria Molinaro, Raefa Abou Khouzam, Enrico Berrino, Mara Panero, Antonella Balsamo, Tiziana Venesio, Guglielmina Nadia Ranzani
AIMS: Colorectal adenomatous polyposis entailing cancer predisposition is caused by constitutional mutations in different genes. APC is associated with the familial adenomatous polyposis (FAP/AFAP) and MUTYH with the MUTYH-associated polyposis (MAP), while POLE and POLD1 mutations cause the polymerase proofreading-associated polyposis (PPAP). METHODS: We screened for mutations in patients with multiple adenomas/FAP: 121 patients were analyzed for APC and MUTYH mutations, and 36 patients were also evaluated for POLE and POLD1 gene mutations...
October 5, 2016: Genetic Testing and Molecular Biomarkers
Anna Rohlin, Eva Rambech, Anders Kvist, Therese Törngren, Frida Eiengård, Ulf Lundstam, Theofanis Zagoras, Samuel Gebre-Medhin, Åke Borg, Jan Björk, Mef Nilbert, Margareta Nordling
Hereditary syndromes causing colorectal cancer include both polyposis and non-polyposis syndromes. Overlapping phenotypes between the syndromes have been recognized and this make targeted molecular testing for single genes less favorable, instead there is a gaining interest for multi-gene panel-based approaches detecting both SNVs, indels and CNVs in the same assay. We applied a panel including 19 CRC susceptibility genes to 91 individuals of six phenotypic subgroups. Targeted NGS-based sequencing of the whole gene regions including introns of the 19 genes was used...
September 30, 2016: Familial Cancer
M Creuzé, P Afchain, A Munck, J Viala, A Bonnard, V Bertrand
Desmoid tumors (DT) are rare and nonmetastasizing fibroblastic neoplasms, characterized by local invasiveness. They occur sporadically or arise in the context of familial adenomatous polyposis (FAP; 5-10% of cases). Most cases develop sporadically in young adults, but some cases also occur in children. We report the case of an adolescent girl with FAP and DT, and we discuss the therapeutic strategies. An adolescent girl with FAP underwent surgery at the age of 14 years with total proctocolectomy. She had a neo-mutation in the APC gene at codon 1068, which is not usually associated with DT...
September 27, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Eun Ji Oh, Sohee Lee, Ja Seong Bae, Yourha Kim, Sora Jeon, Chan Kwon Jung
The cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC) is a rare thyroid neoplasm characterized by unique morphologic findings and association with familial adenomatous polyposis. The biologic behavior of this variant has been reported to behave similarly to classic PTC. We report a rare sporadic case of CMV-PTC occurring in a 45-year-old female with multiple lymph nodes and bone metastases, which were detected after total thyroidectomy and radioactive iodine remnant ablation. Molecular analyses of primary thyroid and metastatic tumor tissues revealed a telomerase reverse transcriptase (TERT) promoter mutation, but absence of BRAF, KRAS, NRAS, HRAS, and PIK3CA mutations...
September 30, 2016: Endocrine Pathology
Taina T Nieminen, Walter Pavicic, Noora Porkka, Matti Kankainen, Heikki J Järvinen, Anna Lepistö, Päivi Peltomäki
Allele-specific expression (ASE) of the Adenomatous Polyposis Coli (APC) gene occurs in up to one-third of families with adenomatous polyposis (FAP) that have screened mutation-negative by conventional techniques. To advance our understanding of the genomic basis of this phenomenon, 54 APC mutation-negative families (21 with classical FAP and 33 with attenuated FAP, AFAP) were investigated. We focused on four families with validated ASE and scrutinized these families by sequencing of the blood transcriptomes (RNA-seq) and genomes (WGS)...
September 23, 2016: Oncotarget
Concetta Dodaro, Carlo Grifasi, Jole Florio, Michele L Santangelo, Francesca Duraturo, Marina De Rosa, Paola Izzo, Andrea Renda
BACKGROUND: A correlation between the location of mutation in the adenomatous polyposis coli (APC) gene and clinical manifestations of familial adenomatous polyposis (FAP) has repeatedly been reported. Some Authors suggest the use of mutational analysis as a guide to select the best surgical option in FAP patients. However, data coming from studies on large series have raised questions on this issue. The aim of this study is to discuss the role of the genetic tests in the management of FAP...
2016: Annali Italiani di Chirurgia
Julien Vouillarmet, Fabio Fernandes-Rosa, Julia Graeppi-Dulac, Pierre Lantelme, Myriam Decaussin-Petrucci, Charles Thivolet, Jean-Louis Peix, Sheerazed Boulkroun, Eric Clauser, Maria-Christina Zennaro
CONTEXT: Recurrent somatic mutations in KCNJ5, CACNA1D, ATP1A1 and ATP2B3 have been identified in aldosterone producing adenomas (APA). The question as to whether they are responsible for both nodulation and aldosterone production is not solved. CASE DESCRIPTION: We describe the case of a young patient who was diagnosed with severe arterial hypertension due to primary aldosteronism at age 26, followed by hemorrhagic stroke four years later. Abdominal computed tomography showed bilateral macronodular adrenal hyperplasia...
September 20, 2016: Journal of Clinical Endocrinology and Metabolism
Hweixian Leong Penny, Tyler R Prestwood, Nupur Bhattacharya, Fionna Sun, Justin A Kenkel, Matthew G Davidson, Lei Shen, Luis A Zuniga, E Scott Seeley, Reetesh Pai, Okmi Choi, Lorna Tolentino, Jinshan Wang, Joseph L Napoli, Edgar G Engleman
Chronic intestinal inflammation accompanies familial adenomatous polyposis (FAP) and is a major risk factor for colorectal cancer in patients with this disease, but the cause of such inflammation is unknown. Because retinoic acid (RA) plays a critical role in maintaining immune homeostasis in the intestine, we hypothesized that altered RA metabolism contributes to inflammation and tumorigenesis in FAP. To assess this hypothesis, we analyzed RA metabolism in the intestines of patients with FAP as well as APC(Min/+) mice, a model that recapitulates FAP in most respects...
September 16, 2016: Cancer Immunology Research
Luyuan Li, John N Jensen, Sara Szabo, Peter VanTuinen, Sean M Lew
Desmoid tumors, also known as aggressive fibromatosis, are locally infiltrating musculoaponeurotic neoplasms arising in connective tissues. Desmoid tumors may be associated with familial adenomatous polyposis (FAP), a genetic disorder that presents with hundreds to thousands of precancerous colorectal polyps. The authors report the case of an 18-month-old boy who underwent resection of a right temporal desmoid tumor (initially diagnosed as cranial fasciitis) and developed a bilateral frontoparietal calvarial desmoid tumor 2 years later...
September 16, 2016: Journal of Neurosurgery. Pediatrics
Bo Shen
Restorative proctocolectomy with ileal pouch-anal anastomosis has become the standard surgical treatment modality for patients with ulcerative colitis or familial adenomatous polyposis who require colectomy. Normally staged pouch surgery is performed. Endoscopy plays an important role in postoperative monitoring of disease status and delivery of therapy, if necessary. Therefore, ileal pouch surgery significantly alters bowel anatomy, with new organ structures being created. Endoscopy of the altered bowel includes the evaluation of end ileostomy, Hartmann pouch or diverted rectum, loop ileostomy, diverted pouch, and pouchoscopy...
October 2016: Gastrointestinal Endoscopy Clinics of North America
Takuya Nagata, Yusuke Demizu, Tomoyuki Okumura, Shinichi Sekine, Naoki Hashimoto, Nobukazu Fuwa, Tomoaki Okimoto, Yutaka Shimada
BACKGROUND: Desmoid tumors, which are associated with familial adenomatous polyposis (FAP), tend to occur frequently in the abdominal wall and mesentery. Currently, there are no recognized treatments other than surgery, and frequent surgeries result in gastrointestinal obstructions and functional gastrointestinal disorders. CASE PRESENTATION: After surgery that was performed on a 39-year-old patient with FAP, we performed a second tumor excision which was the procedure used for frequently occurring mesenteric desmoid tumors...
2016: World Journal of Surgical Oncology
Shinya Uchino, Hideki Ishikawa, Akira Miyauchi, Mitsuyoshi Hirokawa, Shiro Noguchi, Mineko Ushiama, Teruhiko Yoshida, Masahito Michikura, Kokichi Sugano, Toshiyuki Sakai
CONTEXT: The cribriform-morula variant of papillary thyroid carcinoma (CMV-PTC) is a rare variant of papillary thyroid carcinoma (PTC) and is associated with familial adenomatous polyposis (FAP). However, the incidence and the nature of CMV-PTC among FAP patients have not been well characterized. OBJECTIVE: The aim of this study was to determine the incidence and characteristics of thyroid cancer screened by neck ultrasonography for FAP patients. Design, Patients and Intervention: A total of 129 FAP patients were included in this study...
September 13, 2016: Journal of Clinical Endocrinology and Metabolism
Alexia Waller, Sarah Findeis, Michael J Lee
Familial adenomatous polyposis (FAP), caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21, is an autosomal dominant disorder characterized by hundreds to thousands of adenomas throughout the gastrointestinal tract. A variety of extraintestinal manifestations, including thyroid, soft tissue, and brain tumors, may also be present. These patients inevitably develop colorectal carcinoma by the fourth decade of life. In this review, the pathology, epidemiology, and genetic features of FAP are discussed...
June 2016: Journal of Pediatric Genetics
Tara Williamson, Ren-Yuan Bai, Verena Staedtke, David Huso, Gregory J Riggins
Inheritance of a gene mutation leads to the initiation of 5 to 10% of most cancers, including colon cancer cases. We developed a chemoprevention strategy using a novel combination of the non-steroidal anti-inflammatory (NSAID) sulindac plus the anthelminthic benzimidazole, mebendazole. This oral drug combination was effective in the ApcMin/+ mouse model of Familial Adenomatous Polyposis (FAP). Treatment with 35 mg/kg daily mebendazole reduced the number of intestinal adenomas by 56% (P = 0.0002), 160 ppm sulindac by 74% (P < 0...
September 6, 2016: Oncotarget
María Arriba, Ricardo Sánchez, Daniel Rueda, Laura Gómez, Juan L García, Yolanda Rodríguez, José Antonio Pajares, Jessica Pérez, Miguel Urioste, Rogelio González Sarmiento, José Perea
BACKGROUND: Two or more primary colorectal tumors coexisting at the time of diagnosis are considered to be synchronous tumors. It is estimated that synchronous colorectal cancer (SCRC) only accounts for 1.1% to 8.1% of all colorectal cancers (CRCs), and its molecular basis is still poorly understood. PATIENTS AND METHODS: We evaluated the microsatellite instability (MSI) and the CpG island methylator phenotype (CIMP) statuses in a series of 49 patients (98 tumors) diagnosed with sporadic SCRC at the 12 de Octubre University Hospital with the aim of improving the molecular characterization of this type of tumor...
August 9, 2016: Clinical Colorectal Cancer
Yoshihisa Okuchi, Masamichi Imajo, Rei Mizuno, Yuji Kamioka, Hiroyuki Miyoshi, Makoto Mark Taketo, Satoshi Nagayama, Yoshiharu Sakai, Michiyuki Matsuda
Aging-associated alterations of cellular functions have been implicated in various disorders including cancers. Due to difficulties in identifying aging cells in living tissues, most studies have focused on aging-associated changes in whole tissues or certain cell pools. Thus, it remains unclear what kinds of alterations accumulate in each cell during aging. While analyzing several mouse lines expressing fluorescent proteins (FPs), we found that expression of FPs is gradually silenced in the intestinal epithelium during aging in units of single crypt composed of clonal stem cell progeny...
2016: PloS One
Matthew D Giglia, Daniel I Chu
While most colorectal cancers (CRCs) originate from nonhereditary spontaneous mutations, one-third of cases are familial or hereditary. Hereditary CRCs, which account for < 5% of all CRCs, have identifiable germline mutations and phenotypes, such as Lynch syndrome and familial adenomatous polyposis (FAP). Familial CRCs, which account for up to 30% of CRCs, have no identifiable germline mutation or specific pattern of inheritance, but higher-than-expected incidence within a family. Since the discovery that certain genotypes can lead to development of CRC, thousands of mutations have now been implicated in CRC...
September 2016: Clinics in Colon and Rectal Surgery
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