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https://www.readbyqxmd.com/read/29456806/women-with-hereditary-breast-cancer-predispositions-should-avoid-using-their-smartphones-tablets-and-laptops-at-night
#1
EDITORIAL
Seyed Ali Reza Mortazavi, Seyed Mohammad Javad Mortazavi
Breast cancer is the most common malignancy among women, both in the developed and developing countries. Women with mutations in the BRCA1 and BRCA2 genes have an increased risk of breast and ovarian cancers. Recent studies show that short-wavelength visible light disturb the secretion of melatonin and causes circadian rhythm disruption. We have previously studied the health effects of exposure to different levels of radiofrequency electromagnetic fields (RF-EMFs) such as mobile phones, mobile base stations, mobile phone jammers, laptop computers, and radars...
February 2018: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/29456724/long-noncoding-rna-blacat1-promotes-cell-proliferation-and-invasion-in-human-cervical-cancer
#2
Dan Shan, Yumin Shang, Tongxiu Hu
Cervical cancer is one of the leading causes of mortality in females worldwide. Predisposition to distant metastasis has reduced the prognosis of this malignancy, thus the identification of a novel agent for metastatic cervical cancer is required. Long noncoding RNAs (LncRNAs) have been reported to serve significant roles in human tumorigenesis. The present study aimed to investigate the effects of a newly discovered LncRNA bladder cancer associated transcript 1 (non-protein coding) (BLACAT1) on cell proliferation and metastasis in cervical cancer...
March 2018: Oncology Letters
https://www.readbyqxmd.com/read/29455641/circadian-pathway-genetic-variation-and-cancer-risk-evidence-from-genome-wide-association-studies
#3
Simone Mocellin, Saveria Tropea, Clara Benna, Carlo Riccardo Rossi
BACKGROUND: Dysfunction of the circadian clock and single polymorphisms of some circadian genes have been linked to cancer susceptibility, although data are scarce and findings inconsistent. We aimed to investigate the association between circadian pathway genetic variation and risk of developing common cancers based on the findings of genome-wide association studies (GWASs). METHODS: Single nucleotide polymorphisms (SNPs) of 17 circadian genes reported by three GWAS meta-analyses dedicated to breast (Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) Consortium; cases, n = 15,748; controls, n = 18,084), prostate (Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium; cases, n = 14,160; controls, n = 12,724) and lung carcinoma (Transdisciplinary Research In Cancer of the Lung (TRICL) Consortium; cases, n = 12,160; controls, n = 16,838) in patients of European ancestry were utilized to perform pathway analysis by means of the adaptive rank truncated product (ARTP) method...
February 19, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29452120/quantifying-the-polygenic-contribution-to-cutaneous-squamous-cell-carcinoma-risk
#4
Joanne E Sordillo, Peter Kraft, Ann Chen Wu, Maryam M Asgari
Genetic factors play an important role in cutaneous squamous cell carcinoma (cSCC) risk. Genome-wide association studies have identified 21 single nucleotide polymorphisms (SNPs) associated with cSCC risk. Yet no studies have attempted to quantify the contribution of heritability to cSCC risk by calculating the population attributable risk (PAR) using a combination of all discovered genetic variants. Using an additive multi-locus linear logistic model, we determined the cumulative association of these 21 genetic regions to cSCC PAR...
February 13, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29450669/association-of-tert-clptm1l-and-8q24-common-genetic-variants-with-gallbladder-cancer-susceptibility-and-prognosis-in-north-indian-population
#5
Saurabh Yadav, Abhijit Chandra, Ashok Kumar, Balraj Mittal
Gallbladder carcinoma (GBC) is one of the common malignancy of the biliary tract. Several genome wide and candidate gene studies have reported associations between multiple cancer types and single-nucleotide polymorphisms on 5p15.33 and 8q24.21 loci. However, predisposition potential of these genetic variants has not been assessed in GBC. We performed the present study to assess the potential of five polymorphisms on 5p15.33 and one on 8q24.21 locus in GBC risk and treatment response in patients undergoing chemoradiotherapy...
February 15, 2018: Biochemical Genetics
https://www.readbyqxmd.com/read/29445421/evidence-for-a-pre-malignant-cell-line-in-a-skin-biopsy-from-a-patient-with-nijmegen-breakage-syndrome
#6
Raneem Habib, Heidemarie Neitzel, Aurelie Ernst, John K L Wong, Bozenna Goryluk-Kozakiewicz, Antje Gerlach, Ilja Demuth, Karl Sperling, Krystyna Chrzanowska
Background: Nijmegen breakage syndrome is an autosomal recessive disorder characterized by microcephaly, immunodeficiency, hypersensitivity to X-irradiation, and a high predisposition to cancer. Nibrin, the product of the NBN gene, is part of the MRE11/RAD50 (MRN) complex that is involved in the repair of DNA double strand breaks (DSBs), and plays a critical role in the processing of DSBs in immune gene rearrangements, telomere maintenance, and meiotic recombination. NBS skin fibroblasts grow slowly in culture and enter early into senescence...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29439288/childhood-pneumothorax-in-birt-hogg-dub%C3%A3-syndrome-a-cohort-study-and-review-of-the-literature
#7
Marianne Geilswijk, Elisabeth Bendstrup, Mia Gebauer Madsen, Mette Sommerlund, Anne-Bine Skytte
BACKGROUND: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominantly inherited cancer predisposition syndrome associated with an increased risk of spontaneous pneumothorax (SP) and renal cell carcinoma in the adult population. Recent studies suggest that BHD accounts for up to 10% of all SP in adults and BHD in children with SP have been reported. METHODS: To explore to what extent BHD is the cause of childhood pneumothorax, we studied a Danish BHD cohort consisting of 109 cases from 22 families...
February 13, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29436707/the-molecular-pathology-of-cancer-from-pan-genomics-to-post-genomics
#8
REVIEW
David G Huntsman, Marc Ladanyi
As the cancer genomics of most major cancer types have been comprehensively catalogued over the past decade through a variety of national and international efforts, the delineation of cancer subtypes has been refined, and our understanding of critical cancer drivers and of the potentially targetable vulnerabilities they create has grown tremendously. The 2018 Annual Review Issue of The Journal of Pathology provides in-depth assessments of how these pan-genomic approaches have enabled advances in cancer classification, targeted therapy selection, and assessment of cancer progression, all of which are now genomically informed, using several cancer types as examples...
February 13, 2018: Journal of Pathology
https://www.readbyqxmd.com/read/29435050/actein-inhibits-cell-proliferation-and-migration-and-promotes-cell-apoptosis-in-human-non-small-cell-lung-cancer-cells
#9
Yuanyuan Zhang, Jianchun Lian, Xiaowei Wang
Non-small cell lung cancer (NSCLC) is the leading cause of death in smokers and the most common cause for cancer mortality in both males and females in the United States. Predisposition of this malignancy to distant metastasis leads to poor prognosis; therefore, it is urgent to discover novel therapeutic agents for metastatic NSCLC. The present study aimed to investigate the effects of actein treatment on NSCLC cell growth and migration. Cell viability assays demonstrated that administration of actein markedly inhibited NSCLC cell proliferation in a dose- and time-dependent manner...
March 2018: Oncology Letters
https://www.readbyqxmd.com/read/29433971/large-scale-sequencing-of-testicular-germ-cell-tumour-tgct-cases-excludes-major-tgct-predisposition-gene
#10
Kevin Litchfield, Chey Loveday, Max Levy, Darshna Dudakia, Elizabeth Rapley, Jeremie Nsengimana, D Tim Bishop, Alison Reid, Robert Huddart, Peter Broderick, Richard S Houlston, Clare Turnbull
Testicular germ cell tumour (TGCT), the most common cancer in young men, has a significant heritable basis that has long raised questions as to the existence of underlying major high-penetrance susceptibility gene(s). To determine the contribution of rare gene mutations to the inherited risk of TGCT, we analysed germline whole-exome data for 919 TGCT cases and 1609 cancer-free controls. We compared frequencies between TGCT cases and controls of rare (<1%) and low-frequency (1-5%) coding variants (1) individually and (2) collapsed at the gene level via burden testing (T1, disruptive; T2, all deleterious; and T3, all nonsynonymous) using Fisher's exact test with Bonferroni correction of significance thresholds...
February 9, 2018: European Urology
https://www.readbyqxmd.com/read/29431189/molecular-analysis-of-palb2-associated-breast-cancers
#11
Jue Er Amanda Lee, Na Li, Simone M Rowley, Dane Cheasley, Magnus Zethoven, Simone McInerny, Kylie L Gorringe, Paul A James, Ian G Campbell
PALB2 is established as the most clinically important moderate to high penetrance breast cancer predisposition gene after BRCA1 and BRCA2. Mutations in classical familial cancer predisposition genes are presumed to be recessive at the cellular level and therefore a second inactivating somatic mutation is required in the tumour tissue. However, from the limited data that exists, PALB2 may be an example of a cancer predisposition gene that does not conform to Knudsen's "two hit" paradigm. We conducted genome-wide copy number analysis and targeted sequencing of PALB2 and other breast cancer driver genes in 15 invasive breast cancers from individuals carrying pathogenic germline mutations in PALB2...
February 12, 2018: Journal of Pathology
https://www.readbyqxmd.com/read/29428974/malignant-rhabdoid-tumors-originating-within-and-outside-the-central-nervous-system-are-clinically-and-molecularly-heterogeneous
#12
Emilia M Pinto, Dima Hamideh, Armita Bahrami, Brent A Orr, Tong Lin, Stanley Pounds, Gerard P Zambetti, Alberto S Pappo, Amar Gajjar, Sameer Agnihotri, Alberto Broniscer
Multifocal synchronous or metachronous atypical teratoid rhabdoid tumors (ATRTs) and non-central nervous system malignant rhabdoid tumors (extra-CNS MRTs) are rare cancers. We reviewed the clinical and radiologic characteristics of affected patients seen at our institution. Genotyping and analysis of copy number abnormalities (CNAs) in SMARCB1 were performed in germline and tumor samples. Tumor samples underwent genome-wide DNA methylation and CNA analysis. The median age at diagnosis of 21 patients was 0.6 years...
February 10, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29426838/gene-specific-genetic-complementation-between-brca1-and-cobra1-during-mouse-mammary-gland-development
#13
Huai-Chin Chiang, Xiaowen Zhang, Xiayan Zhao, Chi Zhang, Jerry Chen, Paula Garza, Sabrina Smith, Thomas Ludwig, Richard J Baer, Rong Li, Yanfen Hu
Germ-line mutations in breast cancer susceptibility gene, BRCA1, result in familial predisposition to breast and ovarian cancers. The BRCA1 protein has multiple functional domains that interact with a variety of proteins in multiple cellular processes. Understanding the biological consequences of BRCA1 interactions with its binding partners is important for elucidating its tissue-specific tumor suppression function. The Cofactor of BRCA1 (COBRA1) is a BRCA1-binding protein that, as a component of negative elongation factor (NELF), regulates RNA polymerase II pausing during transcription elongation...
February 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29424105/low-penetrance-genetic-polymorphisms-as-potential-biomarkers-for-colorectal-cancer-predisposition
#14
REVIEW
Shing Cheng Tan
AIMS: Colorectal cancer is a leading form of cancer in both males and females. Early detection of individuals at risk of colorectal cancer allows proper treatment and management of the disease to be implemented, which can potentially reduce the burden of colorectal cancer incidence, morbidity and mortality. In recent years, the role of genetic susceptibility factors in mediating predisposition to colorectal cancer has become more and more apparent. This review comprehensively consolidates the recent progresses in the identification of high-frequency, low-penetrance genetic polymorphisms associated with colorectal cancer...
February 8, 2018: Journal of Gene Medicine
https://www.readbyqxmd.com/read/29422015/is-rnasel-p-glu265-a-modifier-of-early-onset-breast-cancer-risk-for-carriers-of-high-risk-mutations
#15
Tú Nguyen-Dumont, Zhi L Teo, Fleur Hammet, Alexis Roberge, Maryam Mahmoodi, Helen Tsimiklis, Daniel J Park, Bernard J Pope, Andrew Lonie, Miroslav K Kapuscinski, Khalid Mahmood, David E Goldgar, Graham G Giles, Ingrid Winship, John L Hopper, Melissa C Southey
BACKGROUND: Breast cancer risk for BRCA1 and BRCA2 pathogenic mutation carriers is modified by risk factors that cluster in families, including genetic modifiers of risk. We considered genetic modifiers of risk for carriers of high-risk mutations in other breast cancer susceptibility genes. METHODS: In a family known to carry the high-risk mutation PALB2:c.3113G>A (p.Trp1038*), whole-exome sequencing was performed on germline DNA from four affected women, three of whom were mutation carriers...
February 8, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29417838/lung-cancer-a-brief-review-of-epidemiology-and-screening
#16
Cláudia Gouvinhas, Ramon Andrade De Mello, Daniela Oliveira, José Manuel Castro-Lopes, Pedro Castelo-Branco, Ricardo Sales Dos Santos, Venceslau Hespanhol, Daniel Humberto Pozza
The global burden of lung cancer has been increasing over the past years, and is still a major threat to public health worldwide, leading to disabilities and premature mortality. Despite multifactorial cause, smoking remains as the major etiological factor, followed by occupational exposure to carcinogens, genetic predisposition and other concomitant diseases. In order to reduce the individual and social burden due to the direct and indirect costs related to the lung cancer treatment, accurate methods of screening are needed...
February 8, 2018: Future Oncology
https://www.readbyqxmd.com/read/29416929/a-novel-dysfunctional-germline-p53-mutation-identified-in-a-family-with-li-fraumeni-syndrome
#17
Min Ji, Lin Wang, Yuguo Shao, Wei Cao, Ting Xu, Shujie Chen, Zhiwei Wang, Qi He, Kuo Yang
Li-Fraumeni Syndrome (LFS), which is a rare dominantly inherited cancer predisposition syndrome, is associated with germline P53 mutations. Mutations of the tumor suppressor protein P53 are associated with more than 50% of human cancers; however, almost 30% of P53 mutations occur rarely and this has raised questions about their significance. It therefore appeared of particular interest that we identified a novel mutation in a patient suffering from breast cancer and fulfilling the diagnostic criteria of LFS...
2018: American Journal of Cancer Research
https://www.readbyqxmd.com/read/29413755/association-of-agtr1-a1166c-and-ace-i-d-polymorphisms-with-breast-cancer-risk-in-north-indian-population
#18
Anukriti Singh, Nidhi Srivastava, Sonal Amit, S N Prasad, M P Misra, Bushra Ateeq
Renin angiotensin system (RAS) comprising Angiotensin converting enzyme (ACE), Angiotensin II (Ang II) and its receptor Angiotensin II receptor type I (AGTR1), plays a critical role in several diseases including cancer. A single nucleotide polymorphism (SNP) A1166C located in 3' untranslated region (UTR) of AGTR1 and an insertion/deletion (I/D) polymorphism present in intron 16 of ACE gene have been associated with many diseases, but their association with Breast cancer (BCa) is still debatable. Here, we for the first time investigated the association of these polymorphisms in a North Indian BCa cohort including 161 patients and 152 healthy women...
January 30, 2018: Translational Oncology
https://www.readbyqxmd.com/read/29412865/interactive-potential-of-genetic-polymorphism-in-xenobiotic-metabolising-and-dna-repair-genes-for-predicting-lung-cancer-predisposition-and-overall-survival-in-north-indians
#19
Apurva Bhardwaj, Charu Bahl, Siddharth Sharma, Navneet Singh, Digamber Behera
INTRODUCTION: Cancer, a multi-step, multifactorial and multi-gene disease, not only damages the genomic integrity of the cell but also hinders the DNA repair mechanisms of the body. Gene-gene and gene environment interactions amongst the genetic polymorphisms together modulate the susceptibility towards a cancer. We have studied the high order gene interactions between the genetic polymorphism of detoxifying genes (CYP1A1, Ahr, XRCC and GST1) that play a key role in the metabolism of the xenobiotics and have been proved to be prognostic markers for lung cancer METHODS: 237 cases and 250 controls have been genotyped using PCR-RFLP technique...
February 2018: Mutation Research
https://www.readbyqxmd.com/read/29405996/familial-esophageal-squamous-cell-carcinoma-with-damaging-rare-germline-mutations-in-kcnj12-kcnj18-and-gprin2-genes
#20
Narjes Khalilipour, Ancha Baranova, Amir Jebelli, Alireza Heravi-Moussavi, Sergey Bruskin, Mohammad Reza Abbaszadegan
In Iran, esophageal cancer is the fourth common cancers in women and sixth common cancers in men. Here we evaluated the importance of familial risk factors and the role of genetic predisposition in Esophageal Squamous Cell Carcinoma (ESCC) using Whole-Exome Sequencing (WES). Germline damaging mutations were identified in WES data from 9 probands of 9 unrelated ESCC pedigrees. Mutations were confirmed with Sanger sequencing and evaluated amplification-refractory mutation system-Polymerase Chain Reaction (ARMS-PCR) in 50 non-related ethnically matched samples and in complete genomics database...
February 2018: Cancer Genetics
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