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Cancer predisposition

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https://www.readbyqxmd.com/read/29221194/altered-microrna-profiles-during-early-colon-adenoma-progression-in-a-porcine-model-of-familial-adenomatous-polyposis
#1
Monika Stachowiak, Tatiana Flisikowska, Stefan Bauersachs, Carolin Perleberg, Hubert Pausch, Marek Switonski, Alexander Kind, Dieter Saur, Angelika Schnieke, Krzysztof Flisikowski
MicroRNAs are dysregulated in various cancers including colorectal cancer, and are potential useful biomarkers of disease development. We used next generation sequencing to investigate miRNA expression profiles in low- and high-grade intraepithelial dysplastic polyps from pigs carrying a mutation in the adenomatous polyposis coli tumour suppressor (APC1311 , orthologous to human APC1309 ) that model an inherited predisposition to colorectal cancer, familial adenomatous polyposis. We identified several miRNAs and their isomiRs significantly (P < 0...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29220288/contemporary-sarcoma-diagnosis-genetics-and-genomics
#2
Inga-Marie Schaefer, Gregory M Cote, Jason L Hornick
Sarcomas include diverse mesenchymal neoplasms with widely varied prognosis, clinical behavior, and treatment. Owing to their rarity and histologic overlap, accurate diagnosis of sarcomas can be challenging. Our approach has evolved dramatically in the past few decades, where novel insights into the molecular pathogenetic basis for sarcomas has dramatically (re)shaped contemporary diagnosis, building on a largely morphology- and clinical presentation-based strategy. Examples include the introduction of novel immunohistochemical markers that serve as surrogates for molecular genetic alterations and identification of characteristic molecular alterations...
December 8, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29215126/can-the-local-health-unit-staff-serve-as-role-model-for-positive-health-behaviours-results-from-an-observational-study-in-italy
#3
R Saulle, R Boggi, P Abetti, M Napoli, S Zannini, G Ravelli, A T Ruggieri, G La Torre
BACKGROUND: Lifestyles as well as health behaviors and attitudes are a matter of personal health and a public health concern for healthcare providers. The aims of the study were to examine lifestyles and health behaviors - i.e., smoking habit, diet, predisposition to undergo for cancer screening tests among the staff of a Local Health Unit in Rome and the prevalence of some of the major preventable chronic degenerative pathologies associated to lifestyles. METHODS: The survey was carried out through the administration of a questionnaire...
January 2018: Annali di Igiene: Medicina Preventiva e di Comunità
https://www.readbyqxmd.com/read/29213343/exome-sequencing-characterizes-the-somatic-mutation-spectrum-of-early-serrated-lesions-in-a-patient-with-serrated-polyposis-syndrome-sps
#4
Sukanya Horpaopan, Jutta Kirfel, Sophia Peters, Michael Kloth, Robert Hüneburg, Janine Altmüller, Dmitriy Drichel, Margarete Odenthal, Glen Kristiansen, Christian Strassburg, Jacob Nattermann, Per Hoffmann, Peter Nürnberg, Reinhard Büttner, Holger Thiele, Philip Kahl, Isabel Spier, Stefan Aretz
Background: Serrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the colon. A serrated polyp-CRC sequence (serrated pathway) of CRC formation has been postulated, however, to date only few molecular signatures of serrated neoplasia (BRAF, KRAS, RNF43 mutations, CpG Island Methylation, MSI) have been described in a subset of SPS patients and neither the etiology of the syndrome nor the distinct genetic alterations during tumorigenesis have been identified...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29209314/probiotic-strain-lactobacillus-casei-bl23-prevents-colitis-associated-colorectal-cancer
#5
Elsa Jacouton, Florian Chain, Harry Sokol, Philippe Langella, Luis G Bermúdez-Humarán
The gut microbiota plays a major role in intestinal health, and an imbalance in its composition can lead to chronic gut inflammation and a predisposition to developing colorectal cancer (CRC). Currently, the use of probiotic bacteria represents an emerging alternative to treat and prevent cancer. Moreover, consumption of these beneficial bacteria may also favorably modulate the composition of the gut microbiota, which has been described in several studies to play an important role in CRC carcinogenesis. In this context, the aim of this study was to assess the protective effect of oral treatment with Lactobacillus casei BL23, a probiotic strain well known for its anti-inflammatory and anticancer properties...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29207078/characterizing-key-nucleotide-polymorphisms-of-hepatitis-c-virus-disease-associations-via-mass-spectrometric-genotyping
#6
Yuta Horiuchi, Jason Lin, Yui Shinojima, Kyoko Fujiwara, Mitsuhiko Moriyama, Hiroki Nagase
As more than 80% of hepatocellular carcinoma patients in Japan also suffer from hepatitis C virus infections some time in their medical history, identifying genetic aberrations associated to hepatitis C virulence in these individuals remains a high priority in the diagnosis and treatment of hepatocellular carcinoma. From the BioBank Japan Project, we acquired 480 subjects of hepatocellular carcinoma, chronic hepatitis and liver cirrhosis, and genotyped 131 clinically relevant host single nucleotide polymorphisms to survey the potential association between certain risk alleles and genes to a patient's predisposition to hepatitis C and liver cancer...
November 22, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/29205368/cyclic-amp-dependent-protein-kinase-catalytic-subunit-a-prkaca-the-expected-the-unexpected-and-what-might-be-next
#7
Constantine A Stratakis
Protein kinase A (PKA) or cyclic-AMP (cAMP)-dependent kinase was among the first serine-threonine kinases to be molecularly and functionally characterized. For years, it was investigated as the enzyme that mediates cAMP functions in almost all cell systems and organisms studied to date. Despite PKA's critical role in signaling and the long history of investigations of cAMP in oncogenesis (dating back to the 1970's), it was not until relatively recently that PKA defects were found to be directly involved in tumor predisposition...
December 4, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/29200166/ataxia-telangiectasia-and-cancer-predisposition-challenges-in-management
#8
Santhosh A Upadhyaya, Rajen Mody, Kelly Walkovich, Raymond J Hutchinson, John T Sandlund, James A Connelly
Immune dysregulation and predisposition to malignancies are critical comorbidities in children affected with ataxia telangiectasia. In addition, these children exhibit increased toxicity to conventional cancer therapy and dose reductions have been proposed to prevent life threatening adverse effects. These modifications to the treatment regimen may result in suboptimal outcomes for these patients. Our report of 3 children with ataxia telangiectasia and cancer highlight the immense challenges in the management of these children, underlining the need for the development of novel, biological agents with reduced acute and long-term side effects in the treatment of cancers in these children...
December 1, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29193904/somatic-mosaicism-of-an-intragenic-fancb-duplication-in-both-fibroblast-and-peripheral-blood-cells-observed-in-a-fanconi-anemia-patient-leads-to-milder-phenotype
#9
Rajalakshmi S Asur, Danielle C Kimble, Francis P Lach, Moonjung Jung, Frank X Donovan, Aparna Kamat, Raymond J Noonan, James W Thomas, Morgan Park, Peter Chines, Adrianna Vlachos, Arleen D Auerbach, Agata Smogorzewska, Settara C Chandrasekharappa
BACKGROUND: Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. METHODS: We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for detection of duplication, targeted capture and next-gen sequencing for defining the duplication breakpoint, PacBio sequencing of full-length FANCB aberrant transcript, FANCD2 ubiquitination and foci formation assays for the evaluation of FANCB protein function by viral transduction of FANCB-null cells with lentiviral FANCB WT and mutant expression constructs, and droplet digital PCR for quantitation of the duplication in the genomic DNA and cDNA...
November 30, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29192276/protein-lysine-methyltransferases-g9a-and-glp1-promote-responses-to-dna-damage
#10
Vasudeva Ginjala, Lizahira Rodriguez-Colon, Bratati Ganguly, Prawallika Gangidi, Paul Gallina, Husam Al-Hraishawi, Atul Kulkarni, Jeremy Tang, Jinesh Gheeya, Srilatha Simhadri, Ming Yao, Bing Xia, Shridar Ganesan
Upon induction of DNA breaks, ATM activation leads to a cascade of local chromatin modifications that promote efficient recruitment of DNA repair proteins. Errors in this DNA repair pathway lead to genomic instability and cancer predisposition. Here, we show that the protein lysine methyltransferase G9a (also known as EHMT2) and GLP1 (also known as EHMT1) are critical components of the DNA repair pathway. G9a and GLP1 rapidly localizes to DNA breaks, with GLP1 localization being dependent on G9a. ATM phosphorylation of G9a on serine 569 is required for its recruitment to DNA breaks...
November 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29191591/fine-mapping-the-mhc-region-in-asian-populations-identified-novel-variants-modifying-susceptibility-to-lung-cancer
#11
Na Qin, Cheng Wang, Meng Zhu, Qun Lu, Zijian Ma, Mingtao Huang, Juncheng Dai, Hongxia Ma, Guangfu Jin, Zhibin Hu, Hongbing Shen
OBJECTIVES: The polymorphic major histocompatibility complex (MHC) plays a vital role in the immune system and drives predisposition to multiple cancers. A number of lung cancer-related genetic variants in the MHC have been identified in recent genome-wide association studies; however, the causal variants remain unclear. MATERIALS AND METHODS: In the present study, we conducted a large-scale fine-mapping study of lung cancer in the MHC region of 13,945 unrelated Asian individuals to search for potential causal variants...
October 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/29191275/screening-of-patients-at-risk-for-familial-pancreatic-cancer-what-is-bene%C3%AF-cial
#12
REVIEW
Robert J Torphy, Richard D Schulick
Family history is a significant risk factor for developing pancreatic cancer and this hereditary risk can be secondary to familial cancer predisposition syndromes, hereditary pancreatitis, or familial pancreatic cancer. Certain high-risk individuals are recommended to undergo screening for pancreatic cancer with endoscopic ultrasound or MRI/magnetic resonance retrograde cholangiopancreatography because of the potential to identify and curatively resect precursor lesions. The management of suspicious lesions identified on screening high-risk individuals is also discussed...
February 2018: Surgical Clinics of North America
https://www.readbyqxmd.com/read/29185120/characterization-of-a-novel-germline-brca1-splice-variant-c-5332-4dela
#13
Ciyu Yang, Sowmya Jairam, Kimberly A Amoroso, Mark E Robson, Michael F Walsh, Liying Zhang
PURPOSE: Germline mutations in BRCA1 and BRCA2 confer a significant increase in risk for cancer, and determining pathogenicity of a BRCA variant can guide the clinical management of the disease. About 1/3 of BRCA1 variants reported in the public databases have uncertain clinical significance due to lack of conclusive evidence. This study aims to characterize a novel BRCA1 deletion affecting the + 4 splice donor site identified in an individual with early-onset breast cancer. METHODS: The effect of BRCA1 c...
November 28, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29178884/a-new-panel-of-snps-to-assess-thyroid-carcinoma-risk-a-pilot-study-in-a-brazilian-admixture-population
#14
Isabelle C C Dos Santos, Julieta Genre, Diego Marques, Ananília M G da Silva, Jéssica C Dos Santos, Jéssica N G de Araújo, Victor H R Duarte, Angel Carracedo, Maria Torres-Español, Gisele Bastos, Carlos C de Oliveira Ramos, André D Luchessi, Vivian N Silbiger
BACKGROUND: Thyroid cancer is a common malignant disease of the endocrine system with increasing incidence rates over the last few decades. In this study, we sought to analyze the possible association of 45 single nucleotide polymorphisms (SNPs) with thyroid cancer in a population from Rio Grande do Norte, Brazil. METHODS: Based on histological analysis by a pathologist, 80 normal thyroid specimens of tissue adjacent to thyroid tumors were obtained from the biobank at the Laboratory of Pathology of Liga Norte Riograndense Contra o Câncer, Natal, RN...
November 25, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29176650/association-of-rs6983267-at-8q24-hulc-rs7763881-polymorphisms-and-serum-lncrnas-ccat2-and-hulc-with-colorectal-cancer-in-egyptian-patients
#15
Olfat G Shaker, Mahmoud A Senousy, Eman M Elbaz
The impact of HULC rs7763881 on colorectal cancer (CRC) susceptibility is not yet known. Also, the biological function of the cancer-related rs6983267 remains unclear. We investigated the association of these SNPs with the risk of CRC and adenomatous polyps (AP), their correlation with CCAT2 and HULC expression, and the potential of serum CCAT2 and HULC as biomarkers for CRC. 120 CRC patients, 30 AP patients, and 96 healthy controls were included. Genotyping and serum lncRNAs were assayed by qPCR. Studied SNPs were not associated with AP susceptibility...
November 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29175835/paediatric-ovarian-tumours-and-their-associated-cancer-susceptibility-syndromes
#16
REVIEW
Catherine Goudie, Leora Witkowski, Stephanie Vairy, W Glenn McCluggage, William D Foulkes
Non-epithelial ovarian tumours are rare neoplasms that occasionally arise in childhood and adolescence. They can be associated with various cancer susceptibility syndromes. The morphological overlap seen across these tumours and their rarity can make the diagnosis challenging. In the case of an incorrect diagnosis, the underlying genetic susceptibility may be missed. In this review, we outline the genetic background of ovarian non-epithelial tumours arising in children, emphasizing the genes harbouring pathogenic germline variants associated with each tumour type...
November 24, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29173771/genetic-predisposition-to-lung-adenocarcinoma-among-never-smoking-chinese-with-different-epidermal-growth-factor-receptor-mutation-status
#17
Li Han, Cheuk-Kwong Lee, Herbert Pang, Hong-Tou Chan, Iek-Long Lo, Sze-Kwan Lam, Tak-Hong Cheong, James Chung-Man Ho
OBJECTIVES: The inconsistent findings from genetic association studies may be related to the heterogeneity in different molecular subtypes of lung cancer. This study evaluated the predisposing single-nucleotide polymorphisms (SNPs) in epidermal growth factor receptor (EGFR) mutant and EGFR wild-type lung adenocarcinoma separately among never-smokers. MATERIALS AND METHODS: This was a two-stage case-control study. Never-smokers with pathologically confirmed lung adenocarcinoma and healthy controls were recruited in Hong Kong and Macau...
December 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/29173061/targeted-sequencing-of-malignant-supratentorial-pediatric-brain-tumors-demonstrates-a-high-frequency-of-clinically-relevant-mutations
#18
Bonnie L Cole, Colin C Pritchard, Maia Anderson, Sarah Es Leary
Pediatric brain tumors cause more deaths than any other childhood malignancy, and the identification of potentially actionable genomic alterations in this rare heterogeneous group of tumors may improve treatment and outcome. The genetic landscape of common posterior fossa tumors has been described in the past several years, yet the classification of malignant pediatric supratentorial tumors remains controversial. Next-generation sequencing is a promising tool to evaluate multiple genes concurrently. The clinical utility of next-generation sequencing has not been proven in pediatric brain tumors...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29170059/the-clinical-potential-of-adipogenesis-and-obesity-related-micrornas
#19
REVIEW
M Zaiou, H El Amri, A Bakillah
Obesity is a growing health problem commonly associated with numerous metabolic disorders including type 2 diabetes, hypertension, cardiovascular disease, and some forms of cancer. The burden of obesity and associated cardiometabolic diseases are believed to arise through complex interplay between genetics and epigenetics predisposition, nutrition, environment, and lifestyle. However, the molecular basis and the repertoire of obesity-affecting factors are still unknown. Emerging evidence is connecting microRNAs (miRNAs) dysregulation with adipogenesis and obesity...
November 20, 2017: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/29167993/group-3-medulloblastoma-in-a-patient-with-a-gys2-germline-mutation-and-glycogen-storage-disease-0a
#20
Till Holsten, Konstantinos Tsiakas, Uwe Kordes, Brigitte Bison, Torsten Pietsch, Stefan Rutkowski, René Santer, Ulrich Schüller
Glycogen storage disease (GSD) 0a is a rare congenital metabolic disease with symptoms in infancy and childhood caused by biallelic GYS2 germline variants. A predisposition to cancer has not been described yet. We report here a boy with GSD 0a, who developed a malignant brain tumor at the age of 4.5 years. The tumor was classified as a group 3 medulloblastoma, and the patient died from cancer 27 months after initial tumor diagnosis. This case appears interesting as group 3 medulloblastoma is so far not known to arise in hereditary syndromes and the biology of sporadic group 3 medulloblastoma is largely unknown...
November 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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