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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
#1
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
#2
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
#3
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
#4
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...
May 30, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28528518/a-multi-gene-panel-study-in-hereditary-breast-and-ovarian-cancer-in-colombia
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/28005997/lack-of-ubiquitin-specific-protease-8-usp8-mutations-in-canine-corticotroph-pituitary-adenomas
#16
Silviu Sbiera, Marianna A Tryfonidou, Isabel Weigand, Guy C M Grinwis, Bart Broeckx, Sabine Herterich, Bruno Allolio, Timo Deutschbein, Martin Fassnacht, Björn P Meij
PURPOSE: Cushing's disease (CD), also known as pituitary-dependent hyperadrenocorticism, is caused by adrenocorticotropic hormone (ACTH)-secreting pituitary tumours. Affected humans and dogs have similar clinical manifestations, however, the incidence of the canine disease is thousand-fold higher. This makes the dog an obvious model for studying the pathogenesis of pituitary-dependent hyperadrenocorticism. Despite certain similarities identified at the molecular level, the question still remains whether the two species have a shared oncogenetic background...
2016: PloS One
https://www.readbyqxmd.com/read/27989630/-specificities-of-carcinomas-in-adolescents-and-young-adults
#17
REVIEW
Brice Fresneau, Marie-Emilie Dourthe, Anaïs Jouin, Valérie Laurence, Guénolée de Lambert, Christelle Colas, Mathilde Coret, Anne Laprie, Céleste Rebours, Daniel Orbach, Charlotte Demoor-Goldschmidt
Carcinomas are rare tumors of the adolescent-young adult (AYA) with a different spectrum from those of adults. The most common sites outside of the thyroid is the nasopharynx, salivary gland, colon-rectum and ovaries. If nasopharyngeal carcinoma or salivary gland tumors are good prognosis, others are more reserved prognosis, such as digestive carcinomas, gynecological or midline. The revelation modes are non-specific and depend on the location: mass, tumor syndrome, pain, impaired general condition. The unusual of pediatric carcinomas led to propose a systematic oncogenetic exploration...
March 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/27899992/beside-p53-and-pten-identification-of-molecular-alterations-of-the-ras-mapk-and-pi3k-akt-signaling-pathways-in-high-grade-serous-ovarian-carcinomas-to-determine-potential-novel-therapeutic-targets
#18
Shuhui Chen, Elisa Cavazza, Catherine Barlier, Julia Salleron, Pierre Filhine-Tresarrieu, Céline Gavoilles, Jean-Louis Merlin, Alexandre Harlé
Despite great histological and molecular heterogeneity, the clinical management of high-grade ovarian carcinomas remains unspecialized. As a major subgroup, high-grade serous ovarian carcinomas (HGSOCs) require novel therapies. In addition to utilizing conventional histological prognostic markers and performing oncogenetic investigations, the molecular diagnostic method of next generation sequencing (NGS) was performed to identify 'druggable' targets that could provide access to innovative therapy. The present study was performed in 45 HGSOC patients (mean age, 59...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27793035/performance-of-multiplicom-s-brca-mastr-dx-kit-on-the-detection-of-brca1-and-brca2-mutations-in-fresh-frozen-ovarian-and-breast-tumor-samples
#19
Cindy Badoer, Céline Garrec, Dirk Goossens, Gillian Ellison, John Mills, Mélina Dzial, Hakim El Housni, Sarah Berwouts, Paola Concolino, Virginie Guibert-Le Guevellou, Capucine Delnatte, Jurgen Del Favero, Ettore Capoluongo, Stéphane Bézieau
Next-generation sequencing (NGS) has enabled new approaches for detection of mutations in the BRCA1 and BRCA2 genes responsible for hereditary breast and ovarian cancer (HBOC). The search for germline mutations in the BRCA1 and BRCA2 genes is of importance with respect to oncogenetic and surgical (bilateral mastectomy, ovariectomy) counselling. Testing tumor material for BRCA mutations is of increasing importance for therapeutic decision making as the poly ADP ribose polymerase (PARP) inhibitor, olaparib, is now available to treat patients with specific forms of ovarian cancer and BRCA mutations...
December 6, 2016: Oncotarget
https://www.readbyqxmd.com/read/27769293/bracavenir-impact-of-a-psychoeducational-intervention-on-expectations-and-coping-in-young-women-aged-18-30-years-exposed-to-a-high-familial-breast-ovarian-cancer-risk-study-protocol-for-a-randomized-controlled-trial
#20
Fabrice Kwiatkowski, Pascal Dessenne, Claire Laquet, Jean-Pierre Daures, Mathilde Gay-Bellile, Yves-Jean Bignon
BACKGROUND: Young women exposed to a high hereditary breast and ovarian cancer (HBOC) risk are particularly vulnerable. They are ignored by health prevention measures but exposed to a stream of contradictory information (medicine, media, Internet). They may feel concerned about surgical prevention issues at a key moment of their identity construction (self, relationship, sexuality). We designed a special psychoeducational intervention to help these women cope better with these difficulties...
October 21, 2016: Trials
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