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Chromosome 9p21

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https://www.readbyqxmd.com/read/29779219/immunohistochemical-and-molecular-analysis-of-spitzoid-neoplasms-with-pulverocyte-subclones
#1
S M Amin, A M Haugh, J A Bubley, A E Verzì, E A Merkel, C Y Lee, V L Quan, E M Garfield, L M Sholl, B Zhang, P Gerami
BACKGROUND: Clonal naevi are characterized by a focal proliferation of pigmented melanocytes in an otherwise banal naevus. These subclones are often composed of aggregates of larger, epithelioid melanocytes with nuclear atypia and dusty-grey cytoplasmic pigmentation, which are referred to as 'pulverocytes', and this finding may lead to a misdiagnosis of malignant melanoma (MM). AIM: To characterize the significance of subclones of dusty-grey pigmented epithelioid melanocytes within spitzoid neoplasms...
May 20, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29708279/cdkn2a-loss-and-pik3ca-mutation-in-myoepithelial-like-metaplastic-breast-cancer
#2
Stephan Bartels, Jana Lisa van Luttikhuizen, Matthias Christgen, Lavinia Mägel, Angelina Luft, Sonja Hänzelmann, Ulrich Lehmann, Brigitte Schlegelberger, Fabian Leo, Doris Steinemann, Hans Kreipe
Metaplastic breast carcinoma comprises a heterogeneous group of tumours with poorly understood pathogenesis. A subset of metaplastic breast cancer shows myoepithelial differentiation and constitutes a morphological spectrum with ill-defined borders from fibromatosis-like spindle cell carcinoma to myoepithelial carcinoma. In a series of 34 metaplastic breast cancers with spindle cell and myoepithelial differentiation, we found recurrent genetic aberrations, which set them apart from other metaplastic breast cancers and suggest a unique pathogenesis...
April 30, 2018: Journal of Pathology
https://www.readbyqxmd.com/read/29684357/genome-wide-somatic-copy-number-alterations-and-mutations-in-high-grade-pancreatic-intraepithelial-neoplasia
#3
Tatsuo Hata, Masaya Suenaga, Luigi Marchionni, Anne Macgregor-Das, Jun Yu, Koji Shindo, Koji Tamura, Ralph H Hruban, Michael Goggins
To obtain a better understanding of the genetic alterations of high-grade pancreatic intraepithelial neoplasia (HG-PanIN), we performed whole-genome copy number analysis using single nucleotide polymorphism microarrays and targeted next-generation sequencing of 11 microdissected HG-PanIN and two low-grade PanIN (LG-PanIN) lesions associated with HG-PanIN. HG-PanIN mutation profiles were compared to those of their associated invasive pancreatic ductal adenocarcinoma. All PanIN lesions harbored somatic KRAS mutations...
April 20, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29663171/prognostic-relevance-of-mutations-and-copy-number-alterations-assessed-with-targeted-next-generation-sequencing-in-idh-mutant-grade-ii-glioma
#4
Maarten M J Wijnenga, Pim J French, Hendrikus J Dubbink, Winand N M Dinjens, Peggy N Atmodimedjo, Johan M Kros, Ruth Fleischeuer, Clemens M F Dirven, Arnaud J P E Vincent, Martin J van den Bent
BACKGROUND: At current prognostication of low grade glioma remains suboptimal and might be improved with additional markers. These may guide treatment decisions, in particular on early adjuvant therapy versus wait and see after surgery. METHODS: We used a targeted Next-Generation Sequencing panel to assess mutational and copy number status of selected genes and chromosomes in a consecutive series of adult grade II supratentorial glioma, and assessed the impact of molecular markers of interest on overall survival...
April 16, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29629612/the-9p21-locus-as-a-potential-therapeutic-target-and-prognostic-marker-in-colorectal-cancer
#5
Afsane Bahrami, Seyed Mahdi Hassanian, Majid Khazaei, Masoumeh Gharib, Mahsa Rahmani, Hamid Fiuji, Mir Hadi Jazayeri, Mehrdad Moetamani-Ahmadi, Gordon A Ferns, Amir Avan
Colorectal cancer (CRC) is a major cause of cancer-related-death worldwide. Despite extensive efforts to identify valid biomarkers for the risk stratification of CRC patients, there are few of proven clinical utility. It is recognized that genetic factors play a major role in determining susceptibility to CRC. Recent genome-wide association studies have demonstrated common genetic variants in a region on chromosome 9p21 associated with an increased risk of CRC. Several genetic polymorphisms have been identified in this region that are associated with CRC...
April 9, 2018: Pharmacogenomics
https://www.readbyqxmd.com/read/29581871/positive-urinary-fluorescence-in-situ-hybridization-indicates-poor-prognosis-in-patients-with-upper-tract-urothelial-carcinoma
#6
Bao Guan, Yicong Du, Xiaohong Su, Zhenpeng Cao, Yifan Li, Yonghao Zhan, Ding Peng, Gengyan Xiong, Dong Fang, Yi Ding, Shiming He, Yanqing Gong, Qun He, Xuesong Li, Liqun Zhou
Here, we evaluated the potential contribution of fluorescent in situ hybridization (FISH) as a prognostic risk factor of bladder recurrence and survival in patients with upper tract urothelial carcinoma (UTUC). A total of 159 UTUC patients were enrolled in this study from January 2012 to May 2016. The 159 voided urine samples before surgery were analyzed using the UroVysion® kit to detect the copy numbers of chromosomes 3, 7, 17 and 9p21 (p16). Patients were classified using an optimal cutoff value of chromosomes 3, 7, 17, and 9p21...
March 6, 2018: Oncotarget
https://www.readbyqxmd.com/read/29577646/performance-of-the-urovysion-%C3%A2-fish-assay-for-the-diagnosis-of-malignant-effusions-using-two-cutoff-strategies
#7
Débora C B Rosolen, Daniel K Faria, Caroline S Faria, Leila Antonangelo
The cytological examination of cavity fluids has limited sensitivity in the diagnosis of malignancy. Aneuploidy, which is commonly observed in neoplastic cells, could potentially be used as an ancillary diagnostic tool. To evaluate the detection of aneuploid cells in cavitary effusion samples using the fluorescence in situ hybridization (FISH) assay UroVysion® with some adaptations and two different cutoff strategies. Seventy samples of pleural or peritoneal fluid with positive (n = 40), negative (n = 15), or suspicious (n = 15) oncotic cytology were subjected to FISH assay with the multitarget UroVysion® kit, which is composed of probes that hybridize to the centromeric region of chromosomes 3, 7, and 17 and to the locus 9p21...
March 25, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29446543/cyclin-dependent-kinase-inhibitor-2a-b-gene-deletions-are-markers-of-poor-prognosis-in-indian-children-with-acute-lymphoblastic-leukemia
#8
Manisha Agarwal, Sameer Bakhshi, Sadanand N Dwivedi, Madhulika Kabra, Rashmi Shukla, Rachna Seth
BACKGROUND: Cyclin dependent kinase inhibitor 2A/B (CDKN2A/B) genes are implicated in many malignancies including acute lymphoblastic leukemia (ALL). These tumor suppressor genes, with a key regulatory role in cell cycle are located on chromosome 9p21.3. Previous studies involving CDKN2A/B gene deletions have shown mixed associations with survival outcome in childhood ALL. PROCEDURE: Hundred and four newly diagnosed children with ALL (1-14 years) were enrolled in this study...
June 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29240242/the-9p21-locus-a-potential-therapeutic-target-and-prognostic-marker-in-breast-cancer
#9
REVIEW
Mahdi Rivandi, Mohammad-Sadegh Khorrami, Hamid Fiuji, Soodabeh Shahidsales, Malihe Hasanzadeh, Mir Hadi Jazayeri, Seyed Mahdi Hassanian, Gordon A Ferns, Nafiseh Saghafi, Amir Avan
Breast cancer is an important cause of cancer related mortality in women. Despite extensive efforts to identify valid biomarkers for risk stratification, there are relatively few with proven clinical utility. It is recognized that genetic factors play a major role in determining susceptibility to breast cancer. Recent genome-wide-association-studies and gene expression analysis have demonstrated that a locus on chromosome 9p21, which contains three genes; CDKN2B (encoding p15ink4b), CDKN2A (encoding p16ink4a and p14ARF) and the 3' end of CDKN2BAS (an antisense noncoding RNA in the INK4 locus [ANRIL]) are associated with an increased risk of this malignancy...
December 14, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29172180/microsatellite-alterations-and-protein-expression-of-5-major-tumor-suppressor-genes-in-gastric-adenocarcinomas
#10
Won Hyuk Choi, Sookhyun Lee, Sungjin Cho
PURPOSE: In gastric adenocarcinoma (GC), the major tumor suppressor genes (TSGs) such as p16, PTEN, Rb, E-cadherin, and p53, may play important roles in various regulatory pathways and in tumor suppression. This study evaluated the loss of heterozygosity (LOH) of microsatellite and protein expression of 5 TSGs and the results were examined for their correlation with clinicopathological factors. METHODS: LOH analysis was carried out using polymerase chain reactions with 15 polymorphic microsatellite markers of 5 chromosomes containing TSGs in 100 surgically resected tumors...
February 2018: Translational Oncology
https://www.readbyqxmd.com/read/29155023/therapy-related-myeloid-neoplasm-in-an-18-year-old-boy-with-b-lymphoblastic-leukemia
#11
Xin Qing, Eduard Panosyan, Changjun Yue, Ping Ji, Moran Gotesman, Samuel French, Junchao Cai
BACKGROUND: Acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy. Acute myeloid leukemia or myelodysplastic syndrome during the course of ALL is a rare entity. Some of these cases are therapy-related while the others occur due to lineage switch. The correct diagnosis relies on comparing the immunophenotypes and cytogenetic/molecular alterations of the myeloid neoplasm and the ALL. We present the clinical, pathologic and cytogenetic features of a case of an 18-year-old male with prior treatment for B-lymphoblastic leukemia (B-ALL) who developed therapy-related myeloid neoplasm (t-MN) 4-5years after his initial diagnosis of B-ALL...
December 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/29147127/association-between-abo-blood-group-and-severity-of-coronary-artery-disease-in-unstable-angina
#12
Negar Omidi, Mohammad Rafie Khorgami, Mohammad Effatpanah, Farnaz Khatami, Mehrpouya Mashhadizadeh, Arash Jalali, Hamidreza Hekmat
BACKGROUND: ABO blood groups are genetically transmitted through chromosome 9 at locus 9q34. It is supposed that there is a locus on 9p21, which has a role in developing coronary artery disease. METHODS: Our study population consisted of 309 patients with unstable angina admitted to the Ziaeian Hospital, Tehran, Iran, who underwent coronary angiography. The association between types of blood group (O and non-O) with the severity of coronary artery disease was investigated...
July 2017: ARYA Atherosclerosis
https://www.readbyqxmd.com/read/29111846/investigation-of-cav1-cav2-rs4236601-and-cdkn2b-as1-rs2157719-in-primary-open-angle-glaucoma-patients-from-brazil
#13
Hugo Freire Nunes, Galina Ananina, Vital Paulino Costa, Nilson Ivo Tonin Zanchin, José Paulo Cabral de Vasconcellos, Mônica Barbosa de Melo
Large-scale genome-wide association studies have identified several susceptibility variants associated with the risk of primary open-angle glaucoma (POAG), among which rs4236601 (CAV1/CAV2) at chromosome 7q31 and rs2157719 at chromosome 9p21 (CDKN2B-AS1). The purpose of this study was to investigate whether these variants contribute to the incidence of POAG in a sample of the Brazilian Southeastern population and to determine the best-fitted genetic model for these single nucleotide polymorphisms (SNPs). A case-control study with 557 individuals, 310 with POAG, and 247 controls was conducted through PCR and direct sequencing...
April 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29062378/association-between-rs10757274-and-rs2383206-snps-as-genetic-risk-factors-in-iranian-patients-with-coronary-artery-disease
#14
Seyed Ahmad Aleyasin, Tayebe Navidi, Saeed Davoudi
Background: There are only a few reports concerning the genetic risk factors for coronary artery disease (CAD). However, 2 polymorphisms of rs10757274 and rs2383206 on chromosome 9p21.3 have been shown recently to be associated with CAD in certain populations. This is the 1st study to investigate their validity and association with CAD in a sample of the Iranian population. Methods: Genomic DNA was extracted from the peripheral blood of all participants, consisting of 111 cases with CAD and 100 normal controls with normal coronary angiographies...
July 2017: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/29053210/a-combination-of-mtap-and-bap1-immunohistochemistry-in-pleural-effusion-cytology-for-the-diagnosis-of-mesothelioma
#15
Yoshiaki Kinoshita, Tomoyuki Hida, Makoto Hamasaki, Shinji Matsumoto, Ayuko Sato, Tohru Tsujimura, Kunimitsu Kawahara, Kenzo Hiroshima, Yoshinao Oda, Kazuki Nabeshima
BACKGROUND: Homozygous deletion of 9p21 detected by fluorescence in situ hybridization (FISH) and loss of BRCA1-associated protein 1 (BAP1) expression detected by immunohistochemistry (IHC) are useful for the differentiation between malignant pleural mesothelioma (MPM) and reactive mesothelial hyperplasia. The authors previously described that IHC expression of the protein product of the methylthioadenosine phosphorylase (MTAP) gene, which is localized in the 9p21 chromosomal region, was correlated with the deletion status of 9p21 FISH in MPM tissues...
January 2018: Cancer Cytopathology
https://www.readbyqxmd.com/read/29037125/signature-of-genetic-associations-in-oral-cancer
#16
Vishwas Sharma, Amrita Nandan, Amitesh Kumar Sharma, Harpreet Singh, Mausumi Bharadwaj, Dhirendra Narain Sinha, Ravi Mehrotra
Oral cancer etiology is complex and controlled by multi-factorial events including genetic events. Candidate gene studies, genome-wide association studies, and next-generation sequencing identified various chromosomal loci to be associated with oral cancer. There is no available review that could give us the comprehensive picture of genetic loci identified to be associated with oral cancer by candidate gene studies-based, genome-wide association studies-based, and next-generation sequencing-based approaches...
October 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28988007/chromosome-copy-number-variation-in-telomerized-human-bone-marrow-stromal-cells-insights-for-monitoring-safe-ex-vivo-expansion-of-adult-stem-cells
#17
Jorge S Burns, Linda Harkness, Abdullah Aldahmash, Laurent Gautier, Moustapha Kassem
Adult human bone marrow stromal cells (hBMSC) cultured for cell therapy require evaluation of potency and stability for safe use. Chromosomal aberrations upsetting genomic integrity in such cells have been contrastingly described as "Limited" or "Significant". Previously reported stepwise acquisition of a spontaneous neoplastic phenotype during three-year continuous culture of telomerized cells (hBMSC-TERT20) didn't alter a diploid karyotype measured by spectral karyotype analysis (SKY)...
December 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28984467/the-9p21-rs-1333040-polymorphism-is-associated-with-coronary-microvascular-obstruction-in-st-segment-elevation-myocardial-infarction-treated-by-primary-angioplasty
#18
Francesco Fracassi, Giampaolo Niccoli, Vincenzo Vetrugno, Michele Cauteruccio, Antonino Buffon, Ilaria Gatto, Igor Giarretta, Paolo Tondi, Roberto Pola, Filippo Crea
BACKGROUND: Microvascular obstruction (MVO) after primary percutaneous coronary intervention (pPCI) leads to higher incidence of both early and late complications. A number of single nucleotide polymorphisms in 9p21 chromosome have been shown to affect angiogenesis in response to ischaemia. In particular, Rs1333040 with its three genotypic vriants C/C, T/C and T/T might influence the occurrence of MVO after pPCI. METHODS: We enrolled ST-elevation myocardial infarction (STEMI) patients undergoing pPCI...
October 1, 2017: European Heart Journal. Acute Cardiovascular Care
https://www.readbyqxmd.com/read/28979897/genome-wide-association-analysis-for-severity-of-coronary-artery-disease-using-the-gensini-scoring-system
#19
Tanja Zeller, Moritz Seiffert, Christian Müller, Markus Scholz, Anna Schäffer, Francisco Ojeda, Heinz Drexel, Axel Mündlein, Marcus E Kleber, Winfried März, Christoph Sinning, Fabian J Brunner, Christoph Waldeyer, Till Keller, Christoph H Saely, Karsten Sydow, Joachim Thiery, Daniel Teupser, Stefan Blankenberg, Renate Schnabel
Coronary artery disease (CAD) has a complex etiology involving numerous environmental and genetic factors of disease risk. To date, the genetic 9p21 locus represents the most robust genetic finding for prevalent and incident CAD. However, limited information is available on the genetic background of the severity and distribution of CAD. CAD manifests itself as stable CAD or acute coronary syndrome. The Gensini score quantifies the extent CAD but requires coronary angiography. Here, we aimed to identify novel genetic variants associated with Gensini score severity and distribution of CAD...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28977839/genetic-defects-of-the-irf1-mediated-major-histocompatibility-complex-class-i-antigen-presentation-pathway-occur-prevalently-in-the-jak2-gene-in-non-small-cell-lung-cancer
#20
Tao Shen, Zhengming Chen, Zhizhuang Joe Zhao, Jie Wu
Recognition of major histocompatibility complex (MHC) class I antigens on tumor cells by cytotoxic T cells is involved in T cell-mediated tumor immune surveillance and immune checkpoint therapy. The interferon-γ (IFNγ)-IRF1 signaling pathway regulates MHC class I antigen presentation. To examine genetic defects of the IFNγ-IRF1 pathway in non-small cell lung cancer (NSCLC), we analyzed The Cancer Genome Atlas (TCGA) lung adenocarcinoma (LuAd) and lung squamous cell carcinoma (LuSc) data. Loss-of-function (LOF) genetic alterations of the IFNγ-IRF1 pathway genes (IFNGR1, IFNGR2, JAK1, JAK2, STAT1, IRF1) were found in 64 (6...
September 22, 2017: Oncotarget
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