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Familial polyposis

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https://www.readbyqxmd.com/read/28808213/the-interaction-between-the-wnt-%C3%AE-catenin-signaling-cascade-and-pkg-activation-in-cancer
#1
Kevin Lee, Gary A Piazza
The activation of the Wnt/β-catenin signaling cascade has been well studied and documented in colorectal cancer (CRC). The long-term use of non-steroidal anti-inflammatory drugs (NSAIDs) has been shown to reduce the incidence and risk of death from CRC in numerous epidemiological studies. The NSAID sulindac has also been reported to cause regression of precancerous adenomas in individuals with familial adenomatous polyposis who are at high risk of developing CRC. The mechanism responsible for cancer chemopreventive activity of NSAIDs is not well understood but may be unrelated to their cyclooxygenase inhibitory activity...
January 19, 2017: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28792655/multiple-pilomatrixomas-in-a-survivor-of-wnt-activated-medulloblastoma-leading-to-the-discovery-of-a-germline-apc-mutation-and-the-diagnosis-of-familial-adenomatous-polyposis
#2
Charles R Bendelsmith, Mary M Skrypek, Sachin R Patel, Dinel A Pond, Amy M Linabery, Anne E Bendel
Because children diagnosed with WNT-activated medulloblastoma have a 10-year overall survival rate of 95%, active long-term follow-up is critically important in reducing mortality from other causes. Here, we describe an 11-year-old adopted female who developed multiple pilomatrixomas 3 years after diagnosis of WNT-activated medulloblastoma, an unusual finding that prompted deeper clinical investigation. A heterozygous germline APC gene mutation was discovered, consistent with familial adenomatous polyposis...
August 9, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28791770/a-novel-apc-promoter-1b-deletion-shows-a-founder-effect-in-italian-patients-with-classical-familial-adenomatous-polyposis-phenotype
#3
Monica Marabelli, Viviana Gismondi, Maria Teresa Ricci, Annalisa Vetro, Raefa Abou Khouzam, Valentina Rea, Marco Vitellaro, Orsetta Zuffardi, Liliana Varesco, Guglielmina Nadia Ranzani
Familial adenomatous polyposis is a Mendelian syndrome in which germline loss-of-function mutations of APC are associated with multiple adenomatous polyps of the large bowel, a multiplicity of extracolonic features, and a high lifetime risk of colorectal cancer. Different APC germline mutations have been identified, including sequence changes, genomic rearrangements, and expression defects. Recently, very rare families have been associated with constitutive large deletions encompassing the APC-5' regulatory region, while leaving the remaining gene sequence intact; the regulatory region contains a proximal and a distal promoter, called 1A and 1B, respectively...
August 9, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28790112/burden-and-profile-of-somatic-mutation-in-duodenal-adenomas-from-patients-with-familial-adenomatous-and-mutyh-associated-polyposis
#4
Laura Elizabeth Thomas, Joanna J Hurley, Elena Meuser, Sian Jose, Kevin E Ashelford, Matthew Mort, Shelley Idziaszczyk, Julie Maynard, Helena Leon Brito, Manon Harry, Angharad Walters, Meera Raja, Sarah Jane Walton, Sunil Dolwani, Geraint T Williams, Meleri Morgan, Morgan Moorghen, Susan K Clark, Julian R Sampson
Duodenal polyposis and cancer are important causes of morbidity and mortality in familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). This study aimed to comprehensively characterize somatic genetic changes in FAP and MAP duodenal adenomas to better understand duodenal tumorigenesis in these disorders.<br /><br />Experimental Design: Sixty-nine adenomas were biopsied during endoscopy in 16 FAP and 10 MAP patients with duodenal polyposis. Ten FAP and 10 MAP adenomas and matched blood DNA samples were exome sequenced, 42 further adenomas underwent targeted sequencing and 47 were studied by array comparative genomic hybridization...
August 8, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28782241/a-novel-mutation-of-adenomatous-polyposis-coli-apc-gene-results-in-the-formation-of-supernumerary-teeth
#5
Fang Yu, Wenping Cai, Beizhan Jiang, Laijun Xu, Shangfeng Liu, Shouliang Zhao
Supernumerary teeth are teeth that are present in addition to normal teeth. Although several hypotheses and some molecular signalling pathways explain the formation of supernumerary teeth, but their exact disease pathogenesis is unknown. To study the molecular mechanisms of supernumerary tooth-related syndrome (Gardner syndrome), a deeper understanding of the aetiology of supernumerary teeth and the associated syndrome is needed, with the goal of inhibiting disease inheritance via prenatal diagnosis. We recruited a Chinese family with Gardner syndrome...
August 7, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28765715/children-s-international-polyposis-chip-study-a-randomized-double-blind-placebo-controlled-study-of-celecoxib-in-children-with-familial-adenomatous-polyposis
#6
Carol A Burke, Robin Phillips, Manuela F Berger, Chunming Li, Margaret Noyes Essex, Dinu Iorga, Patrick M Lynch
OBJECTIVE: To evaluate the efficacy and safety of celecoxib versus placebo in the prevention and treatment of colorectal polyposis in children with familial adenomatous polyposis (FAP). METHODS: In this Phase III, double-blind, randomized, placebo-controlled, multicenter trial patients aged 10-17 years with FAP were randomized to celecoxib (16 mg/kg/day) or placebo for up to 5 years. Patients underwent annual assessments, including colonoscopies, to detect the time from randomization to the earliest occurrence of ≥20 polyps (>2 mm in size) or colorectal malignancy...
2017: Clinical and Experimental Gastroenterology
https://www.readbyqxmd.com/read/28759002/smad4-impedes-the-conversion-of-nk-cells-into-ilc1-like-cells-by-curtailing-non-canonical-tgf-%C3%AE-signaling
#7
Victor S Cortez, Tyler K Ulland, Luisa Cervantes-Barragan, Jennifer K Bando, Michelle L Robinette, Qianli Wang, Andrew J White, Susan Gilfillan, Marina Cella, Marco Colonna
Among the features that distinguish type 1 innate lymphoid cells (ILC1s) from natural killer (NK) cells is a gene signature indicative of 'imprinting' by cytokines of the TGF-β family. We studied mice in which ILC1s and NK cells lacked SMAD4, a signal transducer that facilitates the canonical signaling pathway common to all cytokines of the TGF-β family. While SMAD4 deficiency did not affect ILC1 differentiation, NK cells unexpectedly acquired an ILC1-like gene signature and were unable to control tumor metastasis or viral infection...
July 31, 2017: Nature Immunology
https://www.readbyqxmd.com/read/28751521/the-third-pathway-of-colorectal-carcinogenesis
#8
REVIEW
Carlos A Rubio, Giacomo Puppa, Giovanni de Petris, Lorand Kis, Peter T Schmidt
AIMS: The majority of the colorectal carcinomas (CRC) arise in a vast mucosal area built with columnar cells and mucus-producing goblet cells. These carcinomas evolve via the conventional (tubular/villous) adenoma-carcinoma pathway, or the serrated adenoma-carcinoma pathway. Much less frequently CRC arise in the gut-associated lymphoid tissue (GALT) mucosal domain via the third pathway of colorectal carcinogenesis. METHODS: All publications on human colorectal GALT carcinomas in the literature were reviewed...
July 27, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28747659/porcine-familial-adenomatous-polyposis-model-enables-systematic-analysis-of-early-events-in-adenoma-progression
#9
Tatiana Flisikowska, Monika Stachowiak, Hongen Xu, Alexandra Wagner, Alejandra Hernandez-Caceres, Christine Wurmser, Carolin Perleberg, Hubert Pausch, Anna Perkowska, Konrad Fischer, Dmitrij Frishman, Ruedi Fries, Marek Switonski, Alexander Kind, Dieter Saur, Angelika Schnieke, Krzysztof Flisikowski
We compared gene expression in low and high-grade intraepithelial dysplastic polyps from pigs carrying an APC (1311) truncating mutation orthologous to human APC (1309) , analysing whole samples and microdissected dysplastic epithelium. Gene set enrichment analysis revealed differential expression of gene sets similar to human normal mucosa versus T1 stage polyps. Transcriptome analysis of whole samples revealed many differentially-expressed genes reflecting immune infiltration. Analysis of microdissected dysplastic epithelium was markedly different and showed increased expression in high-grade intraepithelial neoplasia of several genes known to be involved in human CRC; and revealed possible new roles for GBP6 and PLXND1...
July 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28742792/evidence-for-genetic-association-between-chromosome-1q-loci-and-predisposition-to-colorectal-neoplasia
#10
Stephanie A Schubert, Dina Ruano, Fadwa A Elsayed, Arnoud Boot, Stijn Crobach, Arantza Farina Sarasqueta, Bruce Wolffenbuttel, Melanie M van der Klauw, Jan Oosting, Carli M Tops, Ronald van Eijk, Hans Fa Vasen, Rolf Ham Vossen, Maartje Nielsen, Sergi Castellví-Bel, Clara Ruiz-Ponte, Ian Tomlinson, Malcolm G Dunlop, Pavel Vodicka, Juul T Wijnen, Frederik J Hes, Hans Morreau, Noel Fcc de Miranda, Rolf H Sijmons, Tom van Wezel
BACKGROUND: A substantial fraction of familial colorectal cancer (CRC) and polyposis heritability remains unexplained. This study aimed to identify predisposing loci in patients with these disorders. METHODS: Homozygosity mapping was performed using 222 563 SNPs in 302 index patients with various colorectal neoplasms and 3367 controls. Linkage analysis, exome and whole-genome sequencing were performed in a family affected by microsatellite stable CRCs. Candidate variants were genotyped in 10 554 cases and 21 480 controls...
July 25, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28705784/laparoscopic-proctocolectomy-with-ileal-j-pouch-anal-anastomosis-in-children
#11
Ufuk Ateş, Ergun Ergün, Gülnur Göllü, Gönül Küçük, Aydın Yağmurlu
BACKGROUND/AIMS: We aimed to evaluate postoperative fecal incontinence scales of children who underwent laparoscopic proctocolectomy and ileal J-pouch anastomosis for familial adenomateous polyposis (FAP) and inflammatory bowel disease (IBD). MATERIALS AND METHODS: Fecal incontinence scores were collected at 3 months post-surgery. A retrospective chart review was also performed to obtain the demographic data and operative technical details. RESULTS: The postoperative Wexner Fecal Incontinence Score was 0 in 9 of 11 patients and satisfactory in the remaining two...
July 13, 2017: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/28701784/familial-associations-of-colorectal-cancer-with-other-cancers
#12
Hongyao Yu, Akseli Hemminki, Kristina Sundquist, Kari Hemminki
Colorectal cancer (CRC) has a strong familial component which extends to discordant cancers (ie non-CRC tumors). This is best seen in cancer syndromes such as hereditary non-polyposis colorectal cancer (HNPCC) which predisposes to several tumor types. Population-based family studies have also found discordant associations for CRC but they have included cancers which manifest in HNPCC, and there is no convincing evidence of discordant associations beyond the known syndromes. We address familial associations of non-CRC tumors with CRC using the resources of the Swedish Family-Cancer Database and applying a powerful approach of assessing familial relative risks in families of increasing numbers of patients with discordant cancers...
July 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28694653/attenuated-adenomatous-polyposis-of-the-large-bowel-present-and-future
#13
EDITORIAL
Luca Roncucci, Monica Pedroni, Francesco Mariani
Attenuated adenomatous polyposis (AAP) is a poorly understood syndrome, that can be defined as the presence of 10-99 synchronous adenomas in the large bowel, and it is considered a phenotypic variant of familial adenomatous polyposis (FAP). This definition has the advantage of simplicity, but it may include sporadic multiple adenomas of the large bowel at an extreme, or FAP cases on the other side. AAP shows a milder phenotype than FAP, with an older age of onset of adenomas and cancer, and less frequent extracolonic manifestations...
June 21, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28693181/distinct-dna-methylation-alterations-are-associated-with-cribriform-architecture-and-intraductal-carcinoma-in-gleason-pattern-4-prostate-tumors
#14
Ekaterina Olkhov-Mitsel, Farshid Siadat, Ken Kron, Liyang Liu, Andrea J Savio, John Trachtenberg, Neil Fleshner, Theodorus van der Kwast, Bharati Bapat
The aim of the present study was to explore DNA methylation aberrations in association with cribriform architecture and intraductal carcinoma (IDC) of the prostate, as there is robust evidence that these morphological features are associated with aggressive disease and have significant clinical implications. Herein, the associations of a panel of seven known prognostic DNA methylation biomarkers with cribriform and IDC features were examined in a series of 91 Gleason pattern (GP) 4 tumors derived from Gleason score 7 radical prostatectomies...
July 2017: Oncology Letters
https://www.readbyqxmd.com/read/28681123/estrogen-receptor-%C3%AE-as-a-prognostic-marker-of-tumor-progression-in-colorectal-cancer-with-familial-adenomatous-polyposis-and-sporadic-polyps
#15
Paulo Roberto Stevanato Filho, Samuel Aguiar Júnior, Maria Dirlei Begnami, Fábio de Oliveira Ferreira, Wilson Toshihiko Nakagawa, Ranyell Matheus Sobreira Batista Spencer, Tiago Santoro Bezerra, Philip Edward Boggiss, Ademar Lopes
The incidence of colorectal cancer (CRC) is lower in women than in men, and sex steroids can be considered contributing factors because oral contraception usage and estrogen replacement therapy are associated with decreased risk. Conversely, colorectal polyp development in familial adenomatous polyposis (FAP) begins during puberty. The objectives were to evaluate the relationship between the expression of these hormone receptors and adenoma-carcinoma progression, CRC stage and overall survival. We studied 120 A...
July 5, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28668823/desmoid-tumors-in-familial-adenomatous-polyposis
#16
REVIEW
Maria Laura DE Marchis, Francesco Tonelli, Davide Quaresmini, Domenica Lovero, David Della-Morte, Franco Silvestris, Fiorella Guadagni, Raffaele Palmirotta
Familial adenomatous polyposis (FAP) is a cancer syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene. It is characterized by the presence of hundreds of colonic polyps, which have a high tendency to undergo malignant transformation. Among associated lesions in FAP, desmoid tumors represent a common possible life-threatening condition that requires special attention. They are rare tumors occurring with a particularly high incidence in FAP, especially after surgery. In agreement with Knudson's 'two-hit' theory, the inactivation of the residual APC gene in FAP is a critical step in the development of both colorectal cancer and desmoids...
July 2017: Anticancer Research
https://www.readbyqxmd.com/read/28666493/sporadic-case-of-peutz-jeghers-polyp-in-a-14-year-boy
#17
Naheed Sultan, Rabbiya Ali
Peutz-Jeghers syndrome (PJS) is an autosomal dominant hamartomatous polyposis of the gastrointestinal tract, with pigmentation around lips, the buccal mucosa, and anal area. Patients have a strong family history. Patients of PJS present with abdominal pain, blood in stools, and occasionally melena because of polyps, along with classical mucocutaneous pigmentation. Very rarely a sporadic case of Peutz-Jeghers syndrome occurs in early childhood and adolescent. The case of a 14-year boy is reported, who presented with intussussception and bleeding per rectum due to jejunal polyp and a rectal polyp...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28662997/next-generation-immunohistochemistry-emerging-substitutes-to-genetic-testing
#18
REVIEW
Juliana Andrici, Anthony J Gill, Jason L Hornick
The identification of at-risk kindreds facilitates screening and risk reduction strategies for patients with hereditary cancer predisposition syndromes. Recently, immunohistochemistry (IHC) has emerged as a cost-effective strategy for detecting or inferring the presence of mutations in both tumors and the germline of patients presenting with tumors associated with hereditary cancer predisposition syndromes. In this review we discuss the use of novel IHC markers, including PRKAR1A, β-catenin, SDHB, fumarate hydratase and 2SC, HRASQ61R, BAP1, parafibromin and glucagon, which have either established applications or show promise for surgical pathologists to complement morphological or clinical suspicion of hereditary cancer predisposition syndromes...
June 27, 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28655084/-therapeutic-effect-of-a-new-hybrid-technique-which-combined-laparoscopic-method-and-abdominal-repair-for-parastomal-hernia-repair
#19
W Luo, Y Wang, X Duan
Objective: To investigate the safety and effectiveness of a new hybrid technique which combined laparoscopic method and abdominal repair (Dual Lap) for parastomal herniarepair. Methods: The clinical and follow-up data of 27 cases who accepted Dual Lap procedure performed at Department of Hernia and Abdominal Wall Surgery, Wuhan Central Hospital, Tongji Medical College of Huazhong University from January 2010 to January 2015 were analyzed retrospectively. The data included 22 male patients and 5 female patients with mean age of 54 years...
July 1, 2017: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/28653895/cancer-risk-in-patients-with-peutz-jeghers-syndrome-a-retrospective-cohort-study-of-336-cases
#20
Hong-Yu Chen, Xiao-Wei Jin, Bai-Rong Li, Ming Zhu, Jing Li, Gao-Ping Mao, Ya-Fei Zhang, Shou-Bin Ning
Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by mucocutaneous pigmentation and hamartomatous gastrointestinal polyposis. A growing body of evidence has shown that Peutz-Jeghers syndrome could cause an increased risk of various cancers, yet the range of cancer risk estimates was wide among different studies. In this retrospective cohort study, 336 patients with Peutz-Jeghers syndrome in China were enrolled. The clinical characteristics, cancer spectrum, relative cancer risks, and cumulative cancer risks were analyzed...
June 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
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