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https://www.readbyqxmd.com/read/28782849/diffuse-glioma-rare-homozygous-idh-point-mutation-is-it-an-oncogenetic-mechanism
#1
Angad Singh, Mamta Gurav, Sandeep Dhanavade, Omshree Shetty, Sridhar Epari
Isocitrate dehydrogenase (IDH1/IDH2) mutations in gliomas of WHO grade II/III and secondary glioblastoma are almost always heterozygous missense mutations. Here, we report an extremely rare case of homozygous IDH1R132H mutation in a recurrent WHO grade III anaplastic astrocytoma. The authors here also review the relevant literature for the possible metabolic impact of homozygous IDH1/2 mutations in the gliomagenesis.
August 7, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28764644/variable-selection-for-disease-progression-models-methods-for-oncogenetic-trees-and-application-to-cancer-and-hiv
#2
Katrin Hainke, Sebastian Szugat, Roland Fried, Jörg Rahnenführer
BACKGROUND: Disease progression models are important for understanding the critical steps during the development of diseases. The models are imbedded in a statistical framework to deal with random variations due to biology and the sampling process when observing only a finite population. Conditional probabilities are used to describe dependencies between events that characterise the critical steps in the disease process. Many different model classes have been proposed in the literature, from simple path models to complex Bayesian networks...
August 1, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28762020/conception-and-management-of-a-poorly-understood-spectrum-of-dermatologic-neoplasms-atypical-fibroxanthoma-pleomorphic-dermal-sarcoma-and-undifferentiated-pleomorphic-sarcoma
#3
REVIEW
Teo Soleymani, S Tyler Hollmig
Atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS) tumors share many clinical, etiologic, and histologic features and likely represent components of a tumor spectrum. In dermatologic oncology, differentiating between AFX and PDS is pivotal as tumors with histological features consistent with PDS are more likely to behave in a clinically aggressive manner. Importantly, the term "pleomorphic dermal sarcoma" (PDS) is a more appropriate designation than "undifferentiated pleomorphic sarcoma" (UPS) for describing deeper, more aggressive, histologically high-grade cutaneous tumors that otherwise resemble AFX...
August 2017: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/28758101/brca-population-screening-for-predicting-breast-cancer-for-or-against
#4
Giuseppe Lippi, Camilla Mattiuzzi, Martina Montagnana
The pathogenesis of breast cancer, the most frequent female malignancy, entails both genetic and acquired risk factors. Among the various oncogenetic mutations, those involving the BReast Cancer 1 (BRCA1) and BReast Cancer 2 (BRCA2) genes are associated with an extremely high risk of developing breast cancer, with a penetration approximating 70% in women with a positive family history for this malignancy. This important evidence elicits some pragmatic considerations, such as the clinical effectiveness of screening for the most penetrant BRCA mutations in women with or without a positive familial history, but also raises important issues related to the most appropriate clinical management of these patients...
July 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28689638/-oiso-automatic-treatment-of-patients-management-in-oncogenetics
#5
Céline Guien, Aurélie Fabre, Arnaud Lagarde, David Salgado, Catherine Gensollen-Thiriez, Hélène Zattara, Christophe Beroud, Sylviane Olschwang
INTRODUCTION: Oncogenetics is a long-term process, which requires a close relation between patients and medical teams, good familial links allowing lifetime follow-up. Numerous documents are exchanged in between the medical team, which has to frequently interact. We present here a new tool that has been conceived specifically for this management. METHODS: The tool has been developed according to a model-view-controler approach with the relational system PostgreSQL 9...
July 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/28625311/cancers-de-l%C3%A2-ovaire-brca-mut%C3%A3-consultation-d%C3%A2-oncog%C3%A3-n%C3%A3-tique-et-prescription-des-inhibiteurs-de-parp
#6
Laurence Gladieff, Dominique Stoppa Lyonnet, Alain Lortholary, Alexandra Leary, Catherine Genestie, Isabelle Ray-Coquard
GENETIC COUNSELING AND PARP INHIBITORS PRESCRIPTION: Upon the availability of the PARP inhibitors in relapsed ovarian carcinoma, the pathways of the oncogenetic counseling were modified. Any research for a constitutional alteration of the BRCA1 and BRCA2 genes must be accompanied by an oncogenetic counseling. BRCA testing is recommended from the diagnosis to every woman with an ovarian or fallopian tube or peritoneum of high grade adenocarcinoma, whatever the age at the diagnosis and her family history. In case of sensitive relapse or potential inclusion in a clinical trial and in the absence of preliminary constitutional research, the oncogenetic counseling is organized according to a fast track pathway and a somatic analysis can be realized in parallel...
May 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/28625310/mise-%C3%A3-jour-2016-des-recommandations-pour-la-pratique-clinique-de-nice-saint-paul-de-vence-dans-le-cancer-de-l%C3%A2-ovaire-et-du-col-de-l%C3%A2-ut%C3%A3-rus-%C3%A3-un-stade-avanc%C3%A3
#7
Florence Joly, Denis Querleu, Moise Namer, Eric Pujade-Lauraine
UPDATED 2016 RECOMMENDATIONS FOR THE CLINICAL PRACTICE OF NICE/SAINT-PAUL-DE-VENCE IN OVARIAN CANCER AND ADVANCED CERVICAL CANCER: Since the first edition of the 2012-2013 Clinical Practice Recommendations Nice-Saint-Paul for gynecological cancers, the management of ovarian cancer has become more complex with a better definition of histological subtypes of ovarian cancers, the update of the anatomo-clinical classifications, the evolution of the recommended quality criteria for surgery. In addition, the integration of new medical options, such as PARP inhibitors, requires us to review our management of ovarian cnacer patients (including early systematic oncogenetic research of homologous recombination pathway deficiency)...
May 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/28618089/crh-promotes-human-colon-cancer-cell-proliferation-via-il-6-jak2-stat3-signaling-pathway-and-vegf-induced-tumor-angiogenesis
#8
Xianjun Fang, Yali Hong, Li Dai, Yuanyuan Qian, Chao Zhu, Biao Wu, Shengnan Li
Corticotrophin-releasing hormone (CRH) has been demonstrated to participate in various diseases. Our previous study showed that its receptor CRHR1 mediated the development of colitis-associated cancer in mouse model. However, the detailed mechanisms remain unclear. In this study, we explored the oncogenetic role of CRH/CRHR1 signaling in colon cancer cells. Cell proliferation and colony formation assays revealed that CRH contributed to cell proliferation. Moreover, tube formation assay showed that CRH-treated colon cancer cell supernatant significantly promoted tube formation of human umbilical vein endothelial cells (HUVECs)...
June 15, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28560743/occurrence-of-bap1-germline-mutations-in-cutaneous-melanocytic-tumors-with-loss-of-bap1-expression-a-pilot-study
#9
Odile Cabaret, Emilie Perron, Brigitte Bressac-de Paillerets, Nadem Soufir, Arnaud de la Fouchardière
Melanocytic BAP1-associated intradermal tumors (MBAITs) can either be sporadic or associated with a cancer-predisposition syndrome. In this study we explored the clinical status of 136 patients in which at least one MBAIT was found. 49/136 (36%) of them gave their signed consent for an oncogenetic BAP1 blood test. 28/136 patients (20%) diagnosed with an MBAIT had other MBAITs and/or a personal or familial history of BAP1-related cancers that could clinically designate them as potential carriers of a BAP1 germline mutation...
September 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28528518/a-multi-gene-panel-study-in-hereditary-breast-and-ovarian-cancer-in-colombia
#10
A M Cock-Rada, C A Ossa, H I Garcia, L R Gomez
Germline mutations in BRCA1 and BRCA2 account for approximately 50% of inherited breast and ovarian cancers. Three founder mutations in BRCA1/2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. This study describes the frequency and type of germline mutations in hereditary breast and/or ovarian cancer genes in a referral cancer center in Colombia. Eighty-five women referred to the oncogenetics unit of the Instituto de Cancerologia Las Americas in Medellin (Colombia), meeting testing criteria for hereditary breast and ovarian cancer syndrome (NCCN 2015), who had germline testing with a commercial 25-gene hereditary cancer panel, were included in the analysis...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28453507/genetic-cancer-risk-assessment-for-breast-cancer-in-latin-america
#11
Yanin Chavarri-Guerra, Kathleen Reilly Blazer, Jeffrey Nelson Weitzel
In Latin America, breast cancer is the most common malignancy in women, and limited available data suggest that up to 15% of all breast cancer cases in the region are hereditary. Genetic cancer risk assessment and counseling is a critical component of the appropriate clinical care of patients with hereditary breast cancer and their families. Unfortunately, genetic services are underdeveloped across Latin America, and access to genetic testing and counseling is very scarce in the region. Barriers contributing to the access to genetic care are high cost and lack of insurance coverage for genetic tests, insufficient oncogenetics training or expertise, nonexistence of genetic counseling as a clinical discipline, and lack of supportive healthcare policies...
March 2017: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
https://www.readbyqxmd.com/read/28429715/mapping-clinicopathological-entities-within-colorectal-mucinous-adenocarcinomas-a-hierarchical-clustering-approach
#12
Charly Liddell, Laure Droy-Dupré, Sylvie Métairie, Fabrice Airaud, Christelle Volteau, Stéphane Bezieau, Christian L Laboisse, Jean-François Mosnier
The aim of this study was to interrogate the heterogeneity of colorectal mucinous adenocarcinomas. This study is based on hierarchical clustering approach combining clinicopathological and molecular patterns known to be relevant to oncogenesis and therapeutic management of patients with colorectal carcinoma, ie, microsatellite instability, O6-methylguanine-DNA methyltransferase (MGMT) status, KRAS, and BRAF mutations and wnt signaling pathway activation. Comparison of the study group of 60 mucinous adenocarcinomas defined according to World Health Organization classification with control group of 136 colorectal adenocarcinomas successively removed shows higher frequency of BRAF and KRAS mutations and microsatellite instability-high status and lower frequency of wnt signaling pathway activation in mucinous adenocarcinomas...
April 21, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28412288/adult-t-type-lymphoblastic-lymphoma-treatment-advances-and-prognostic-indicators
#13
REVIEW
Stéphane Lepretre, Carlos Graux, Aurore Touzart, Elizabeth Macintyre, Nicolas Boissel
T-cell lymphoblastic lymphoma (T-LBL) is a rare, aggressive neoplasm of precursor T cells that occurs mostly in adolescents and young adults. In this review, we describe the treatment of adult T-LBL with a focus on recent advances using pediatric-inspired acute lymphoblastic leukemia regimens, which have greatly improved outcome. We also discuss the development of prognostic indicators for T-LBL, especially oncogenetic factors, that can identify patients at higher risk of relapse and may help further extend T-LBL patient survival...
July 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28247637/-oncogenetic-factors-of-some-herpesvirus-infection-agents
#14
I V Kosova
Currently, debate continues about the etiological role of pathogens, in particular viruses, in the development of bladder tumors, their impact on the rate of recurrence and invasive and metastatic forms. The literature has reported some evidence for oncomodulating effect of cytomegalovirus in glioblastomas and bowel tumors. There is the possible role of herpes simplex virus (HSV) type 2 as carcinogenesis cofactor that initiates the development of dysplasia and maintains it in a stable condition. Epstein - Barr virus (EBV) from a family of the oncogenic DNA viruses is associated with an increasing range of cancers...
August 2016: Urologii︠a︡
https://www.readbyqxmd.com/read/28229527/melanotransferrin-new-homolog-genes-and-their-differential-expression-during-intestinal-regeneration-in-the-sea-cucumber-holothuria-glaberrima
#15
Josué Hernández-Pasos, Griselle Valentín-Tirado, José E García-Arrarás
Melanotransferrin (MTf) is a protein associated with oncogenetic, developmental, and immune processes which function remains unclear. The MTf gene has been reported in numerous vertebrate and invertebrate species, including echinoderms. We now report the finding of four different MTfs in the transcriptome of the sea cucumber Holothuria glaberrima. Sequence studies and phylogenetic analyses were done to ascertain the similarities among the putative proteins and their relationship with other transferrin family members...
May 2017: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
https://www.readbyqxmd.com/read/28215040/who-should-receive-a-transplant-for-acute-lymphoblastic-leukaemia
#16
REVIEW
Rishi Dhawan, David I Marks
Allogeneic haematopoietic cell transplantation continues to be an important curative therapy for acute lymphoblastic leukaemia (ALL). Traditionally accepted indications for allografting adult ALL patients need reevaluation in light of outcomes with paediatric-like intensive regimens. Minimal residual disease status and oncogenetics can be used for restratification of standard risk patients. A greater body of data on haematopoietic cell transplantation (HCT) outcomes from haploidentical and cord blood donor sources has been generated in recent years...
April 2017: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/28211614/opportunities-for-improving-triple-negative-breast-cancer-outcomes-results-of-a-population-based-study
#17
Elisabetta Rapiti, Kim Pinaud, Pierre O Chappuis, Valeria Viassolo, Aurélie Ayme, Isabelle Neyroud-Caspar, Massimo Usel, Christine Bouchardy
Triple-negative breast cancer (TNBC) is associated with a poor prognosis. Surgery, radiotherapy, chemotherapy, and referral for genetic counseling are the standard of care. We assessed TNBC prevalence, management, and outcome using data from the population-based Geneva cancer registry. 2591 women had a first invasive stage I-III breast cancer diagnosed between 2003 and 2011. We compared TNBC to other breast cancers (OBC) by χ(2) -test and logistic regression. Kaplan-Meier survival curves, up to 31-12-2014, were compared using log-rank test...
March 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28114597/frequency-of-thyroid-carcinoma-in-brazilian-tp53-p-r337h-carriers-with-li-fraumeni-syndrome
#18
Maria Nirvana da Cruz Formiga, Kelvin César de Andrade, Luiz Paulo Kowalski, Maria Isabel Achatz
Importance: Li Fraumeni syndrome (LFS) is associated with a wide variety of tumors; nevertheless, thyroid carcinoma has not been evaluated in this syndrome. Due to the Brazilian founder mutation p.R337H, some tumors that have not been described in the classic LFS have been observed in a higher-than-expected prevalence in Brazil. Objective: To determine the frequency of thyroid carcinoma in Brazilian carriers of a founder TP53 p.R337H mutation. Design, Setting, and Participants: We reviewed medical records of patients with LFS with germline TP53 p...
January 19, 2017: JAMA Oncology
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
#19
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/28076850/transforming-growth-factor-beta1-suppresses-hepatocellular-carcinoma-proliferation-via-activation-of-hippo-signaling
#20
Xiaodong Zhang, Qing Fan, Yan Li, Zhaoguo Yang, Liang Yang, Zhihong Zong, Biao Wang, Xin Meng, Qin Li, Jingang Liu, Hangyu Li
In this study, we examined the expression of core proteins of the Hippo signaling pathway in hepatocellular carcinoma (HCC) cells treated with transforming growth factor-β 1(TGF-β1) and investigated the relationship between TGF-β1 and the Hippo signaling pathway, in order to better understand their roles in HCC and their potential implications for cancer therapy. We prove that the Hippo signaling pathway is involved in the TGF-β1-induced inhibition of the growth of HCC cells. Large tumor suppressor expression (LATS1) was overexpression and yes association protein 1(YAP1) translocated from the nucleus to the cytoplasm in HCC cells treated with TGF-β1...
May 2, 2017: Oncotarget
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