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Cancer predisposition

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https://www.readbyqxmd.com/read/29046751/case-series-of-multiple-primary-cancers-in-single-individuals-diagnostic-and-therapeutic-dilemmas
#1
Faizan Malik, Naveed Ali, Jibran Durrani, Syed Imran Mustafa, Crystal Denlinger
Background and Objectives: Cancer recurrence represents treatment failure; the development of new primary tumors is suggestive of persistent exposure to etiological risk factors or genetic predisposition due to mutations in multiple cell lines. Case presentation/Design/Methods: The first case is a 65-years-old Caucasian male who presented with esophageal and lung cancer diagnosed synchronously. Smoking was the common risk factor for both cancers, underscoring field cancerization. The diagnosis and management was a challenge and different from either cancer presenting alone...
October 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/29044504/a-low-frequency-haplotype-spanning-slx4-fancp-constitutes-a-new-risk-locus-for-early-onset-breast-cancer-60-years-and-is-associated-with-reduced-dna-repair-capacity
#2
Harald Surowy, Dominic Varga, Barbara Burwinkel, Frederik Marmé, Christof Sohn, Manuel Luedeke, Antje Rinckleb, Christiane Maier, Helmut Deissler, Meta Volcic, Lisa Wiesmüller, Annette Hasenburg, Maximilian Klar, Josef Hoegel, Walther Vogel
Only a fraction of breast cancer (BC) cases can be yet explained by mutations in genes or genomic variants discovered in linkage, genome-wide association and sequencing studies. The known genes entailing medium or high risk for BC are strongly enriched for a function in DNA double strand repair. Thus, aiming at identifying low frequency variants conferring an intermediate risk, we here investigated 17 variants (MAF: 0.01-0.1) in 10 candidate genes involved in DNA repair or cell cycle control. In an exploration cohort of 437 cases and 1189 controls we show the variant rs3810813 in the SLX4/FANCP gene to be significantly associated with both BC (≤60 years; OR=2...
October 16, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29043618/integrated-microarray-based-tools-for-detection-of-genomic-dna-damage-and-repair-mechanisms
#3
Patrick van Eijk, Yumin Teng, Mark R Bennet, Katie E Evans, James R Powell, Richard M Webster, Simon H Reed
The genetic information contained within the DNA molecule is highly susceptible to chemical and physical insult, caused by both endogenous and exogenous sources that can generate in the order of thousands of lesions a day in each of our cells (Lindahl, Nature 362(6422):709-715, 1993). DNA damages interfere with DNA metabolic processes such as transcription and replication and can be potent inhibitors of cell division and gene expression. To combat these regular threats to genome stability, a host of DNA repair mechanisms have evolved...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29042204/antibody-response-to-human-papillomavirus-vaccination-and-natural-exposure-in-individuals-with-fanconi-anemia
#4
Parinda A Mehta, Sharon Sauter, Xue Zhang, Stella M Davies, Suzanne I Wells, Kasiani C Myers, Gitika Panicker, Elizabeth R Unger, Melinda Butsch Kovacic
Fanconi anemia (FA) is a rare genetic disorder associated with predisposition to head and neck and gynecological squamous cell cancers. In the general population, these cancers are commonly linked to human papillomavirus (HPV) infection. Antibodies to natural HPV infection and HPV vaccination were evaluated in 63 individuals with FA while considering host immune factors. Approximately 30% of reportedly unvaccinated participants were seropositive (HPV6-38%, HPV11-25%, HPV16-26%, and HPV18-26%). Seropositivity was significantly associated with having had sex regardless of age (p=...
October 14, 2017: Vaccine
https://www.readbyqxmd.com/read/29041005/cardiogenic-shock-during-first-infusion-of-anthracycline-chemotherapy-in-a-patient-with-hodgkin-lymphoma-an-unusual-event
#5
Giulio Binaghi, Damiana Congia, Stefano Cossa, Stefania Massidda, Daniele Pasqualucci, Federica Pilo, Emanuela Serra, Emanuele Angelucci, Maurizio Porcu
INTRODUCTION: Hodgkin lymphoma (HL) is one of the most common types of cancers of the lymphatic system. The currently available therapies enable a cure in approximately 80-85% of treated patients. However, the cardiotoxicity of HL treatment has become a major cause of morbidity and mortality in survivors mainly related to the use of anthracycline. CASE REPORT: An HL, staged IIIB, was diagnosed in a 60-year-old man with no cardiovascular disease. During the first cycle of ABVD chemotherapy (Adriamycin; bleomycin; vinblastine; dacarbazine), near the end of the dacarbazine infusion, the patient presented a sudden cardiogenic shock characterized by a severe left ventricular systolic dysfunction...
October 18, 2017: Cardiology
https://www.readbyqxmd.com/read/29034880/generation-of-induced-pluripotent-stem-cell-ipsc-line-from-a-patient-with-triple-negative-breast-cancer-with-hereditary-exon-17-deletion-of-brca1-gene
#6
Frank Griscelli, Noufissa Oudrhiri, Olivier Feraud, Dominique Divers, Lucie Portier, Ali G Turhan, Annelise Bennaceur Griscelli
BRCA1 germline mutation confers hereditary predisposition for breast and ovarian cancer. To understand the physiopathology of mammary and ovarian epithelial cancer transformation, and to identify early driver molecular events, we have generated an iPSC line from a patient carrying a germline exon 17 deletion in BRCA1 gene (BRAC1Ex17 iPSC) in a high-risk family context. Blood cells were reprogrammed used non-integrative virus of Sendaï. The BRCA1-deleted iPSC had normal karyotype, harboured a deletion in the exon 17 of the BRCA1 gene, expressed pluripotent hallmarks and had the differentiation capacity into the three germ layers...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29033351/mouse-cutaneous-melanoma-induced-by-mutant-braf-arises-from-expansion-and-dedifferentiation-of-mature-pigmented-melanocytes
#7
Corinna Köhler, David Nittner, Florian Rambow, Enrico Radaelli, Fabio Stanchi, Niels Vandamme, Arianna Baggiolini, Lukas Sommer, Geert Berx, Joost J van den Oord, Holger Gerhardt, Cedric Blanpain, Jean-Christophe Marine
To identify the cells at the origin of melanoma, we combined single-cell lineage-tracing and transcriptomics approaches with time-lapse imaging. A mouse model that recapitulates key histopathological features of human melanomagenesis was created by inducing a BRafV600E-driven melanomagenic program in tail interfollicular melanocytes. Most targeted mature, melanin-producing melanocytes expanded clonally within the epidermis before losing their differentiated features through transcriptional reprogramming and eventually invading the dermis...
October 4, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/29031493/beyond-interstrand-crosslinks-repair-contribution-of-fancd2-and-other-fanconi-anemia-proteins-to-the-replication-of-dna
#8
REVIEW
Maria B Federico, Paola Campodónico, Natalia S Paviolo, Vanesa Gottifredi
Biallelic mutations of FANCD2 and other components of the Fanconi Anemia (FA) pathway cause a disease characterized by bone marrow failure, cancer predisposition and a striking sensitivity to agents that induce crosslinks between the two complementary DNA strands (inter-strand crosslinks-ICL). Such genotoxins were used to characterize the contribution of the FA pathway to the genomic stability of cells, thus unravelling the biological relevance of ICL repair in the context of the disease. Notwithstanding this, whether the defect in ICL repair as the sole trigger for the multiple physiological alterations observed in FA patients is still under investigation...
September 14, 2017: Mutation Research
https://www.readbyqxmd.com/read/29029584/evidence-for-genetic-risk-contributing-to-long-term-adverse-treatment-effects-in-childhood-cancer-survivors
#9
Maria Monica Gramatges, Smita Bhatia
Survivors of childhood cancer are at increased risk for therapy-related morbidities and mortality. Although the demographic and clinical factors predicting the risk for long-term effects of cancer therapy are well known, the impact of genetic risk for specific late effects is less clearly defined. Here, we review the extant literature and recent research describing genetic modifiers to risk for the more common late effects of childhood cancer therapy. Results of this research support the need for clinical trials that attempt to further refine risk prediction by incorporating genetic testing into existing algorithms that are primarily based on clinical and demographic factors...
October 13, 2017: Annual Review of Medicine
https://www.readbyqxmd.com/read/29027484/cyp1a1-expression-and-organochlorine-pesticides-level-in-the-etiology-of-bladder-cancer-in-north-indian-population
#10
H Verma, T Sharma, S Gupta, B D Banerjee
Urinary bladder cancer (UBC) is one of the most common malignancies worldwide. The etiology of UBC is multifactorial and includes both exogenous and endogenous factors. Exogenous risk factors include exposure to heavy metals, aromatic amines, and environmental pollutants including pesticides such as organochlorine pesticides (OCPs). Environmental factors alone are incapable of directly producing DNA damage and may require activation by phase I metabolizing enzymes like cytochrome P450 in order to become active carcinogen...
January 1, 2017: Human & Experimental Toxicology
https://www.readbyqxmd.com/read/29025599/constitutional-mosaicism-of-a-de-novo-tp53-mutation-in-a-patient-with-bilateral-choroid-plexus-carcinoma
#11
Joanna Trubicka, Iwona Filipek, Iwanowski Piotr, Małgorzata Rydzanicz, Wiesława Grajkowska, Dorota Piekutowska-Abramczuk, Krystyna Chrzanowska, Agnieszka Karkucińska-Więckowska, Katarzyna Iwanicka-Pronicka, Maciej Pronicki, Maria Łastowska, Rafał Płoski, Bożenna Dembowska-Bagińska
Choroid plexus tumors (CPT) constitute 2%-5% of all pediatric brain tumors and include high grade choroid plexus carcinoma (CPC). About 40% of CPC patients harbor germline TP53 mutations, associated with diminished survival rates. However, the number of TP53 carriers might be underestimated due to suboptimal ability of Sanger sequencing to identify mosaicism. We describe an 18-month-old boy with ultra-rare, bilateral disseminated CPC and negative family history of cancer. Next generation sequencing (NGS) revealed constitutional mosaicism of de novo TP53 mutation, which was barely detectable by Sanger sequencing...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29025590/identification-of-pathogenic-retrotransposon-insertions-in-cancer-predisposition-genes
#12
Yaping Qian, Debora Mancini-DiNardo, Thaddeus Judkins, Hannah C Cox, Krystal Brown, Maria Elias, Nanda Singh, Courtney Daniels, Jayson Holladay, Bradford Coffee, Karla R Bowles, Benjamin B Roa
Cancer risks have been previously reported for some retrotransposon element (RE) insertions; however, detection of these insertions is technically challenging and very few oncogenic RE insertions have been reported. Here we evaluate RE insertions identified during hereditary cancer genetic testing using a comprehensive testing strategy. Individuals who had single-syndrome or pan-cancer hereditary cancer genetic testing from February 2004 to March 2017 were included. RE insertions were identified using Sanger sequencing, Next Generation Sequencing, or multiplex quantitative PCR, and further characterized using targeted PCR and sequencing analysis...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29025585/genetic-gastric-cancer-susceptibility-in-the-international-clinical-cancer-genomics-community-research-network
#13
Thomas Slavin, Susan L Neuhausen, Christina Rybak, Ilana Solomon, Bita Nehoray, Kathleen Blazer, Mariana Niell-Swiller, Aaron W Adamson, Yate-Ching Yuan, Kai Yang, Sharon Sand, Danielle Castillo, Josef Herzog, Xiwei Wu, Shu Tao, Tanya Chavez, Yanghee Woo, Joseph Chao, Pamela Mora, Darling Horcasitas, Jeffrey Weitzel
Few susceptibility genes for gastric cancer have been identified. We sought to identify germline susceptibility genes from participants with gastric cancer from an international hereditary cancer research network. Adults with gastric cancer of any histology, and with a germline DNA sample (n = 51), were retrospectively selected. For those without previously identified germline mutations (n = 43), sequencing was performed for 706 candidate genes. Twenty pathogenic or likely pathogenic variants were identified among 18 participants...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29020660/identification-of-twenty-nine-novel-germline-unclassified-variants-of-brca1-and-brca2-genes-in-1400-italian-individuals
#14
Concetta Santonocito, Margherita Scapaticci, Donatella Guarino, Andrea Bartolini, Angelo Minucci, Paola Concolino, Giovanni Scambia, Ida Paris, Ettore Capoluongo
OBJECTIVES: Breast and/or ovarian cancers are complex multifactorial diseases caused by interaction of both genetic and non-genetic factors and characterized by predisposition to inheritance. BRCA1 and BRCA2 genes are the most clinically involved with these kinds of cancer and the spectrum of variants affecting these genes is very wide. In fact, point variants, large or small insertions/deletions, genomic rearrangements can be found in these patients, although a large number of variants with uncertain biological and clinical significance continues to be identified...
October 8, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/29020621/fanconi-anemia-associated-mutations-destabilize-rad51-filaments-and-impair-replication-fork-protection
#15
Karina Zadorozhny, Vincenzo Sannino, Ondrej Beláň, Jarmila Mlčoušková, Mário Špírek, Vincenzo Costanzo, Lumír Krejčí
Fanconi anemia (FA) is a genetic disorder characterized by a defect in DNA interstrand crosslink (ICL) repair, chromosomal instability, and a predisposition to cancer. Recently, two RAD51 mutations were reported to cause an FA-like phenotype. Despite the tight association of FA/HR proteins with replication fork (RF) stabilization during normal replication, it remains unknown how FA-associated RAD51 mutations affect replication beyond ICL lesions. Here, we report that these mutations fail to protect nascent DNA from MRE11-mediated degradation during RF stalling in Xenopus laevis egg extracts...
October 10, 2017: Cell Reports
https://www.readbyqxmd.com/read/29017962/ace-i-d-sequence-variants-but-not-mthfr-c677t-is-strongly-linked-to-malignant-glioma-risk-and-its-variant-dd-genotype-may-act-as-a-promising-predictive-biomarker-for-overall-survival-for-glioma-patients
#16
Arshad A Pandith, Iqbal Qasim, Wani Zahoor, Parveen Shah, Abdul R Bhat
OBJECTIVE: ACE I/D and MTHFR C677T gene polymorphisms can be seen as candidate genes for glioma on the basis of their biological functions and their involvement in different cancers. The aim of this study was to analyze potential association and overall survival between MTHFR C677T and ACE I/D polymorphism in glioma patients in our population. MATERIALS AND METHODS: We tested genotype distribution of 112 glioma patients against 141 cancer-free controls from the same region...
October 7, 2017: Gene
https://www.readbyqxmd.com/read/28991562/imaging-and-screening-of-pancreatic-cancer
#17
REVIEW
Kristine S Burk, Grace C Lo, Michael S Gee, Dushyant V Sahani
Given the low disease prevalence of both exocrine and endocrine cancers in the general population, screening is not recommended. However, in as many as 25% of cases there is a precursor lesion or an identifiable genetic predisposition. For these patients at increased risk, screening with imaging is recommended. Multidetector computed tomography, MR imaging or magnetic resonance cholangiopancreatography, and endoscopic ultrasound examination can be used as screening modalities. Recent advances in dual energy CT and total body MR imaging have increased the suitability of these noninvasive modalities as first-line imaging screening options...
November 2017: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/28984800/pediatric-cancer-genetics
#18
Sarah J Dean, Meagan Farmer
PURPOSE OF REVIEW: The current review will focus on the current knowledge of the contribution of both germline and somatic mutations to the development and management of cancer in pediatric patients. RECENT FINDINGS: It has long been thought that genetic mutations in both germline and somatic cells can contribute to the development of cancer in pediatric patients. With the recent advances in genomic technologies, there are now over 500 known cancer predisposition genes...
October 4, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28980922/rs3918242-variant-genotype-frequency-and-increased-timp-2-and-mmp-9-expression-are-positively-correlated-with-cancer-invasion-in-urinary-bladder-cancer
#19
S Pençe, E Özbek, N Ozan Tiryakioğlu, N Ersoy Tunali, H H Pençe, H Tunali
To study the role of MMP9 and TIMP2 genotypes and expression in predisposition to bladder cancer and relation with metastasis. 100 urinary bladder cancer patients and 100 healthy controls were included in the study. rs3918242 and rs8179090 genotypes were determined with PCR-RFLP. Quantitative real-time polymerase chain reaction was employed to assess the MMP-9 and TIMP-2 expression in tumors and adjacent healthy tissues. Variant genotype (TT) for rs3918242 polymorphism and rs8179090 variant genotype are not associated with bladder cancer risk...
September 30, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28978853/idiopathic-thrombosis
#20
Hiroko Tsuda
Idiopathic thrombosis involves a group of inherited thrombophilia predisposed to severe thrombosis of early onset and associated with an adverse outcome due to recurrence, and therefore, requires long-term anticoagulation therapy. The causative factors of a predisposition to thrombosis include immobility, dehydration, infection, surgery, injury, cancer, pregnancy, and estrogen use. The inherited deficiencies of antithrombin (AT), protein C (PC), and protein S (PS) are specified as "Specific Pediatric Chronic Diseases...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
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