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Genetic predisposition to cancer

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https://www.readbyqxmd.com/read/28214212/primary-multiple-tumor-with-affection-of-the-thyroid-gland-uterus-urinary-bladder-mammary-gland-and-other-organs
#1
А Romaniuk, M Lyndin, V Smiyanov, Vl Sikora, A Rieznik, Y Kuzenko, H Budko, Yu Moskalenko, L Karpenko, Vol Sikora, O Gladchenko
BACKGROUND: Nowadays multiple primary tumor is characterized by growth and development of two or more tumors in one patient. The total world sickness rate ranges from 1% to 37%. The presence of four or more tumors in one patient is rare case and presented as casuistry. CASE PRESENTATION: We showed a case of multiple primary tumor with metahronic lesion of the thyroid, uterus and breast, followed by synchronous benign tumors of the subcutaneous fat, urinary bladder and gallbladder were considered...
January 19, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28176296/brca1-and-brca2-mutations-in-ovarian-cancer-patients-from-china-ethnic-related-mutations-in-brca1-associated-with-an-increased-risk-of-ovarian-cancer
#2
Tingyan Shi, Pan Wang, Caixia Xie, Sheng Yin, Di Shi, Congchong Wei, Wenbin Tang, Rong Jiang, Xi Cheng, Qingyi Wei, Qing Wang, Rongyu Zang
BRCA1/2 are cancer predisposition genes involved in hereditary breast and ovarian cancer (HBOC). Mutation carriers display an increased sensitivity to inhibitors of poly (ADP-ribose) polymerase (PARP). Despite a number of small-size hospital-based studies being previously reported, there is not yet, to our knowledge, precise data of BRCA1/2 mutations among Chinese ovarian cancer patients. We performed a multicenter cohort study including 916 unselected consecutive epithelial ovarian cancer (EOC) patients from eastern China, to screen for BRCA1/2 mutations using the next-generation sequencing approach...
February 8, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28174125/family-history-in-colonoscopy-patients-feasibility-and-performance-of-electronic-and-paper-based-surveys-for-colorectal-cancer-risk-assessment-in-the-outpatient-setting
#3
Tannaz Guivatchian, Erika S Koeppe, Jason R Baker, Cristina Moisa, Matthew Demerath, Caitlin Foor-Pessin, William D Chey, Shanti L Eswaran, Joseph C Kolars, Stacy B Menees, Michael Rajala, Michael D Rice, Rafat Rizk, Joel H Rubenstein, Pratima Sharma, Andrea Todisco, Elena M Stoffel
BACKGROUND AND AIMS: Family history is crucial in stratifying patients' risk for colorectal cancer (CRC). Previous risk assessment tools developed for use in clinic or endoscopy settings have demonstrated suboptimal specificity for identifying patients with hereditary cancer syndromes. Our aim was to test the feasibility and performance of 2 family history surveys (paper and electronic) in individuals presenting for outpatient colonoscopy. METHODS: Patients presenting for outpatient colonoscopy at a tertiary care center were asked to complete a 5 question paper risk assessment survey (short paper survey) either alone or in conjunction with a second, comprehensive electronic family risk assessment survey (comprehensive tablet survey)...
February 4, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28168833/childhood-cancer-predisposition-syndromes-a-concise-review-and-recommendations-by-the-cancer-predisposition-working-group-of-the-society-for-pediatric-oncology-and-hematology
#4
Tim Ripperger, Stefan S Bielack, Arndt Borkhardt, Ines B Brecht, Birgit Burkhardt, Gabriele Calaminus, Klaus-Michael Debatin, Hedwig Deubzer, Uta Dirksen, Cornelia Eckert, Angelika Eggert, Miriam Erlacher, Gudrun Fleischhack, Michael C Frühwald, Astrid Gnekow, Gudrun Goehring, Norbert Graf, Helmut Hanenberg, Julia Hauer, Barbara Hero, Simone Hettmer, Katja von Hoff, Martin Horstmann, Juliane Hoyer, Thomas Illig, Peter Kaatsch, Roland Kappler, Kornelius Kerl, Thomas Klingebiel, Udo Kontny, Uwe Kordes, Dieter Körholz, Ewa Koscielniak, Christof M Kramm, Michaela Kuhlen, Andreas E Kulozik, Britta Lamottke, Ivo Leuschner, Dietmar R Lohmann, Andrea Meinhardt, Markus Metzler, Lüder H Meyer, Olga Moser, Michaela Nathrath, Charlotte M Niemeyer, Rainer Nustede, Kristian W Pajtler, Claudia Paret, Mareike Rasche, Dirk Reinhardt, Olaf Rieß, Alexandra Russo, Stefan Rutkowski, Brigitte Schlegelberger, Dominik Schneider, Reinhard Schneppenheim, Martin Schrappe, Christopher Schroeder, Dietrich von Schweinitz, Thorsten Simon, Monika Sparber-Sauer, Claudia Spix, Martin Stanulla, Doris Steinemann, Brigitte Strahm, Petra Temming, Kathrin Thomay, Andre O von Bueren, Peter Vorwerk, Olaf Witt, Marcin Wlodarski, Willy Wössmann, Martin Zenker, Stefanie Zimmermann, Stefan M Pfister, Christian P Kratz
Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient...
February 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28162059/fanconi-anaemia
#5
Doreen Crawford, Annette Dearmun
Fanconi anaemia is a rare inherited genetic condition that can lead to aplastic anaemia and bone marrow failure. People with the condition have a predisposition to some cancers. The condition is named after Swiss paediatrician Guido Fanconi.
February 6, 2017: Nursing Children and Young People
https://www.readbyqxmd.com/read/28160403/the-utility-of-alpha-fetoprotein-screening-in-beckwith-wiedemann-syndrome
#6
Kelly A Duffy, Matthew A Deardorff, Jennifer M Kalish
Beckwith-Wiedemann syndrome (BWS) is one of the most common cancer predisposition disorders. As a result, BWS patients receive tumor screening as part of their clinical management. Until recently, this screening has been employed uniformly across all genetic and epigenetic causes of BWS, including the utilization of ultrasonography to detect abdominal tumors and alpha-fetoprotein (AFP) to detect hepatoblastoma. The advancements in our understanding of the genetics and epigenetics leading to BWS has evolved over time, and has led to the development of genotype/phenotype correlations...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28152093/combined-effect-of-genetic-polymorphisms-of-aurka-and-environmental-factors-on-oral-cancer-development-in-taiwan
#7
Chia-Hsuan Chou, Ying-Erh Chou, Chun-Yi Chuang, Shun-Fa Yang, Chiao-Wen Lin
BACKGROUND: Oral squamous cell carcinoma (OSCC) is the sixth and fourth most common cause of cancer death in men worldwide and in Taiwan, respectively. AURKA, which encodes a centrosome-related serine/threonine kinase, is frequently amplified and overexpressed in many human cancers, particularly advanced OSCC. We conducted a hospital-based case-control study to estimate AURKA single-nucleotide polymorphisms (SNPs) and environmental risk factors to determine OSCC susceptibility and clinicopathological characteristics...
2017: PloS One
https://www.readbyqxmd.com/read/28138371/detection-of-helicobacter-pylori-in-the-bronchoalveolar-lavage-of-patients-with-lung-cancer-using-real-time-pcr
#8
Mitra Samareh-Fekri, Seyed Mehdi Hashemi Bajgani, Ahmad Shafahi, Mahbobeh Asadi-Zarandi, Hamid Mollaie, Arshia Jamali Paghalhe
BACKGROUND: Lung cancer is one of the most common causes of death worldwide. Although smoking and environmental pollutants are the most important risk factors of lung cancer, the role of infectious causes should also be considered in the pathogenesis and progress of lung cancer. OBJECTIVES: This study examined the relationship between Helicobacter pylori and lung cancer through serology, real-time PCR, and urease tests. METHODS: This descriptive cross-sectional study was conducted on 52 adult patients with lung cancer who were selected after having their history taken and being physically examined by a pulmonologist...
November 2016: Jundishapur Journal of Microbiology
https://www.readbyqxmd.com/read/28134710/mortal-allies-human-immunodeficiency-virus-and-noncommunicable-diseases
#9
Elizabeth S Mayne, Jaya A George
PURPOSE OF REVIEW: HIV-infected individuals have improved access to antiretroviral therapy. This has resulted in a shift in causes of mortality from infectious diseases to noncommunicable diseases including cardiovascular disease, chronic kidney disease (CKD) and malignancies. This review will look at the epidemiological shift, risk factors for the development of these diseases and examine some of the supporting laboratory diagnostic testing, which may be required. RECENT FINDINGS: Risk factors for the development of these diseases in HIV-infected patients include underlying genetic predisposition, lifestyle risk factors, chronic inflammation as a consequence of HIV infection, the presence and persistence of opportunistic infections and in some cases, highly active antiretroviral therapy, itself...
March 2017: Current Opinion in HIV and AIDS
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/28125078/frequent-inactivating-germline-mutations-in-dna-repair-genes-in-patients-with-ewing-sarcoma
#11
Andrew S Brohl, Rajesh Patidar, Clesson E Turner, Xinyu Wen, Young K Song, Jun S Wei, Kathleen A Calzone, Javed Khan
PURPOSE: Ewing sarcoma is a small round blue cell tumor that is highly malignant and predominantly affects the adolescent and young adult population. It has long been suspected that a genetic predisposition exists for this cancer, but the germ-line genetic underpinnings of this disease have not been well established. METHODS: We performed germline variant analysis of whole-genome or whole-exome sequencing of samples from 175 patients affected by Ewing sarcoma. RESULTS: We discovered pathogenic or likely pathogenic germline mutations in 13...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28124291/gastrointestinal-and-hepatic-complications-of-immune-checkpoint-inhibitors
#12
REVIEW
Peyton Cramer, Robert S Bresalier
PURPOSE OF REVIEW: Gastrointestinal complications are very common in patients undergoing cancer treatment. Some of these complications can be life threatening and require prompt and appropriate diagnosis and treatment. The purpose of this review is to address luminal gastrointestinal and hepatic complications associated with a new class of anticancer drugs, immune checkpoint inhibitors (CPIs), and focuses on the identification, evaluation, and management of the complications associated with this class of drugs...
January 2017: Current Gastroenterology Reports
https://www.readbyqxmd.com/read/28110285/validation-of-a-clinical-screening-instrument-for-tumour-predisposition-syndromes-in-patients-with-childhood-cancer-tups-protocol-for-a-prospective-observational-multicentre-study
#13
Floor A M Postema, Saskia M J Hopman, Corianne A J M de Borgie, Peter Hammond, Raoul C Hennekam, Johannes H M Merks, Cora M Aalfs, Jakob K Anninga, Lieke Pv Berger, Fonnet E Bleeker, Eveline Sjm de Bont, Corianne Ajm de Borgie, Charlotte J Dommering, Natasha Ka van Eijkelenburg, Peter Hammond, Raoul C Hennekam, Marry M van den Heuvel-Eibrink, Saskia Mj Hopman, Marjolijn Cj Jongmans, Wijnanda A Kors, Tom Gw Letteboer, Jan Lcm Loeffen, Johannes Hm Merks, Maran Jw Olderode-Berends, Floor Am Postema, Anja Wagner
INTRODUCTION: Recognising a tumour predisposition syndrome (TPS) in patients with childhood cancer is of significant clinical relevance, as it affects treatment, prognosis and facilitates genetic counselling. Previous studies revealed that only half of the known TPSs are recognised during standard paediatric cancer care. In current medical practice it is impossible to refer every patient with childhood cancer to a clinical geneticist, due to limited capacity for routine genetic consultation...
January 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28098859/dna-damage-response-defect-in-williams-beuren-syndrome
#14
David Guenat, Giuseppe Merla, Eric Deconinck, Christophe Borg, Pierre-Simon Rohrlich
Williams-Beuren syndrome (WBS, no. OMIM 194050) is a rare multisystem genetic disorder caused by a microdeletion on chromosome 7q11.23 and characterized by cardiovascular malformations, mental retardation, and a specific facial dysmorphism. Recently, we reported that a series of non‑Hodgkin's lymphoma occurs in children with WBS and thus hypothesized that a predisposition to cancer may be associated with this genetic disorder. The aim of the present study was to ascertain the role played by three genes hemizygously deleted in WBS (RFC2, GTF2I and BAZ1B) in DNA damage response pathways...
January 17, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28097779/the-mcgill-interactive-pediatric-oncogenetic-guidelines-an-approach-to-identifying-pediatric-oncology-patients-most-likely-to-benefit-from-a-genetic-evaluation
#15
Catherine Goudie, Hallie Coltin, Leora Witkowski, Stephanie Mourad, David Malkin, William D Foulkes
Identifying cancer predisposition syndromes in children with tumors is crucial, yet few clinical guidelines exist to identify children at high risk of having germline mutations. The McGill Interactive Pediatric OncoGenetic Guidelines project aims to create a validated pediatric guideline in the form of a smartphone/tablet application using algorithms to process clinical data and help determine whether to refer a child for genetic assessment. This paper discusses the initial stages of the project, focusing on its overall structure, the methodology underpinning the algorithms, and the upcoming algorithm validation process...
January 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28093897/presence-of-early-stage-cancer-does-not-impair-the-early-protein-metabolic-response-to-major-surgery
#16
Mariëlle P K J Engelen, V Suzanne Klimberg, Arianna Allasia, Nicolaas Ep Deutz
BACKGROUND: Combined bilateral mastectomy and reconstruction is a common major surgical procedure in women with breast cancer and in those with a family history of breast cancer. As this large surgical procedure induces muscle protein loss, a preserved anabolic response to nutrition is warranted for optimal recovery. It is unclear whether the presence of early stage cancer negatively affects the protein metabolic response to major surgery as this would mandate perioperative nutritional support...
January 16, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28093616/rare-germline-alterations-in-cancer-related-genes-associated-with-the-risk-of-multiple-primary-tumor-development
#17
Rolando A R Villacis, Tatiane R Basso, Luisa M Canto, Maísa Pinheiro, Karina M Santiago, Juliana Giacomazzi, Cláudia A A de Paula, Dirce M Carraro, Patrícia Ashton-Prolla, Maria I Achatz, Silvia R Rogatto
: Multiple primary tumors (MPT) have been described in carriers of inherited cancer predisposition genes. However, the genetic etiology of a large proportion of MPT cases remains unclear. We reviewed 267 patients with hereditary cancer predisposition syndromes (HCPS) that underwent genetic counseling and selected 22 patients with MPT to perform genomic analysis (CytoScan HD Array, Affymetrix) aiming to identify new alterations related to a high risk of developing MPT. Twenty patients had a positive family history of cancer and 11 met phenotypic criteria for HCPS...
January 16, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28087410/repair-of-8-oxog-a-mismatches-by-the-mutyh-glycosylase-mechanism-metals-and-medicine
#18
REVIEW
Douglas M Banda, Nicole N Nuñez, Michael A Burnside, Katie M Bradshaw, Sheila S David
Reactive oxygen and nitrogen species (RONS) may infringe on the passing of pristine genetic information by inducing DNA inter- and intra-strand crosslinks, protein-DNA crosslinks, and chemical alterations to the sugar or base moieties of DNA. 8-Oxo-7,8-dihydroguanine (8-oxoG) is one of the most prevalent DNA lesions formed by RONS and is repaired through the base excision repair (BER) pathway involving the DNA repair glycosylases OGG1 and MUTYH in eukaryotes. MUTYH removes adenine (A) from 8-oxoG:A mispairs, thus mitigating the potential of G:C to T:A transversion mutations from occurring in the genome...
January 10, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28076423/unique-features-of-germline-variation-in-five-egyptian-familial-breast-cancer-families-revealed-by-exome-sequencing
#19
Yeong C Kim, Amr S Soliman, Jian Cui, Mohamed Ramadan, Ahmed Hablas, Mohamed Abouelhoda, Nehal Hussien, Ola Ahmed, Abdel-Rahman Nabawy Zekri, Ibrahim A Seifeldin, San Ming Wang
Genetic predisposition increases the risk of familial breast cancer. Recent studies indicate that genetic predisposition for familial breast cancer can be ethnic-specific. However, current knowledge of genetic predisposition for the disease is predominantly derived from Western populations. Using this existing information as the sole reference to judge the predisposition in non-Western populations is not adequate and can potentially lead to misdiagnosis. Efforts are required to collect genetic predisposition from non-Western populations...
2017: PloS One
https://www.readbyqxmd.com/read/28073972/awareness-and-attitude-regarding-reproductive-options-of-persons-carrying-a-brca-mutation-and-their-partners
#20
J J G Gietel-Habets, C E M de Die-Smulders, I A P Derks-Smeets, A Tibben, V C G Tjan-Heijnen, R van Golde, E Gomez-Garcia, C M Kets, L A D M van Osch
STUDY QUESTION: To what extent are BRCA mutation carriers and their partners in the Netherlands aware about preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) as reproductive options and what is their attitude towards these options? SUMMARY ANSWER: Awareness of PGD (66%) and PND (61%) among BRCA mutation carriers and their partners is relatively high and 80% and 26%, respectively, of BRCA carriers and their partners find offering PGD and PND for hereditary breast and ovarian cancer (HBOC) acceptable...
January 9, 2017: Human Reproduction
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