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https://www.readbyqxmd.com/read/29665859/morphology-and-genomic-hallmarks-of-breast-tumours-developed-by-atm-deleterious-variant-carriers
#1
Anne-Laure Renault, Noura Mebirouk, Laetitia Fuhrmann, Guillaume Bataillon, Eve Cavaciuti, Dorothée Le Gal, Elodie Girard, Tatiana Popova, Philippe La Rosa, Juana Beauvallet, Séverine Eon-Marchais, Marie-Gabrielle Dondon, Catherine Dubois d'Enghien, Anthony Laugé, Walid Chemlali, Virginie Raynal, Martine Labbé, Ivan Bièche, Sylvain Baulande, Jacques-Olivier Bay, Pascaline Berthet, Olivier Caron, Bruno Buecher, Laurence Faivre, Marc Fresnay, Marion Gauthier-Villars, Paul Gesta, Nicolas Janin, Sophie Lejeune, Christine Maugard, Sébastien Moutton, Laurence Venat-Bouvet, Hélène Zattara, Jean-Pierre Fricker, Laurence Gladieff, Isabelle Coupier, Georgia Chenevix-Trench, Janet Hall, Anne Vincent-Salomon, Dominique Stoppa-Lyonnet, Nadine Andrieu, Fabienne Lesueur
BACKGROUND: The ataxia telangiectasia mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary breast and ovarian cancer (HBOC) families who undergo genetic testing. So far, no clear histopathological and molecular features of breast tumours occurring in ATM deleterious variant carriers have been described, but identification of an ATM-associated tumour signature may help in patient management. METHODS: To characterise hallmarks of ATM-associated tumours, we performed systematic pathology review of tumours from 21 participants from ataxia-telangiectasia families and 18 participants from HBOC families, as well as copy number profiling on a subset of 23 tumours...
April 17, 2018: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/29662167/sequencing-of-prostate-cancers-identifies-new-cancer-genes-routes-of-progression-and-drug-targets
#2
David C Wedge, Gunes Gundem, Thomas Mitchell, Dan J Woodcock, Inigo Martincorena, Mohammed Ghori, Jorge Zamora, Adam Butler, Hayley Whitaker, Zsofia Kote-Jarai, Ludmil B Alexandrov, Peter Van Loo, Charlie E Massie, Stefan Dentro, Anne Y Warren, Clare Verrill, Dan M Berney, Nening Dennis, Sue Merson, Steve Hawkins, William Howat, Yong-Jie Lu, Adam Lambert, Jonathan Kay, Barbara Kremeyer, Katalin Karaszi, Hayley Luxton, Niedzica Camacho, Luke Marsden, Sandra Edwards, Lucy Matthews, Valeria Bo, Daniel Leongamornlert, Stuart McLaren, Anthony Ng, Yongwei Yu, Hongwei Zhang, Tokhir Dadaev, Sarah Thomas, Douglas F Easton, Mahbubl Ahmed, Elizabeth Bancroft, Cyril Fisher, Naomi Livni, David Nicol, Simon Tavaré, Pelvender Gill, Christopher Greenman, Vincent Khoo, Nicholas Van As, Pardeep Kumar, Christopher Ogden, Declan Cahill, Alan Thompson, Erik Mayer, Edward Rowe, Tim Dudderidge, Vincent Gnanapragasam, Nimish C Shah, Keiran Raine, David Jones, Andrew Menzies, Lucy Stebbings, Jon Teague, Steven Hazell, Cathy Corbishley, Johann de Bono, Gerhardt Attard, William Isaacs, Tapio Visakorpi, Michael Fraser, Paul C Boutros, Robert G Bristow, Paul Workman, Chris Sander, Freddie C Hamdy, Andrew Futreal, Ultan McDermott, Bissan Al-Lazikani, Andrew G Lynch, G Steven Bova, Christopher S Foster, Daniel S Brewer, David E Neal, Colin S Cooper, Rosalind A Eeles
Prostate cancer represents a substantial clinical challenge because it is difficult to predict outcome and advanced disease is often fatal. We sequenced the whole genomes of 112 primary and metastatic prostate cancer samples. From joint analysis of these cancers with those from previous studies (930 cancers in total), we found evidence for 22 previously unidentified putative driver genes harboring coding mutations, as well as evidence for NEAT1 and FOXA1 acting as drivers through noncoding mutations. Through the temporal dissection of aberrations, we identified driver mutations specifically associated with steps in the progression of prostate cancer, establishing, for example, loss of CHD1 and BRCA2 as early events in cancer development of ETS fusion-negative cancers...
April 16, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29660759/parp-inhibitors-in-breast-cancer-bringing-synthetic-lethality-to-the-bedside
#3
REVIEW
Anita A Turk, Kari B Wisinski
Individuals with breast and ovarian cancer susceptibility gene 1 (BRCA1) or BRCA2 germline mutations have a significantly increased lifetime risk for breast and ovarian cancers. BRCA-mutant cancer cells have abnormal homologous recombination (HR) repair of DNA. In these tumors, the base excision repair (BER) pathway is important for cell survival. The poly(adenosine diphosphate-ribose) polymerase (PARP) enzymes play a key role in BER, and PARP inhibitors are effective in causing cell death in BRCA-mutant cells while sparing normal cells-a concept called synthetic lethality...
April 16, 2018: Cancer
https://www.readbyqxmd.com/read/29659587/can-chimerism-explain-breast-ovarian-cancers-in-brca-non-carriers-from-brca-positive-families
#4
Rachel Mitchell, Lela Buckingham, Melody Cobleigh, Jacob Rotmensch, Kelly Burgess, Lydia Usha
Hereditary breast and ovarian cancer syndrome (HBOC) is most frequently caused by mutations in BRCA1 or BRCA2 (in short, BRCA) genes. The incidence of hereditary breast and ovarian cancer in relatives of BRCA mutation carriers who test negative for the familial mutation (non-carriers) may be increased. However, the data is controversial, and at this time, these individuals are recommended the same cancer surveillance as general population. One possible explanation for BRCA phenocopies (close relatives of BRCA carriers who have developed cancer consistent with HBOC but tested negative for a familial mutation) is natural chimerism where lack of detectable mutation in blood may not rule out the presence of the mutation in the other tissues...
2018: PloS One
https://www.readbyqxmd.com/read/29659014/single-cpg-hypermethylation-allele-methylation-errors-and-decreased-expression-of-multiple-tumor-suppressor-genes-in-normal-body-cells-of-mutation-negative-early-onset-and-high-risk-breast-cancer-patients
#5
Julia Böck, Silke Appenzeller, Larissa Haertle, Tamara Schneider, Andrea Gehrig, Jörg Schröder, Simone Rost, Beat Wolf, Claus R Bartram, Christian Sutter, Thomas Haaf
To evaluate the role of constitutive epigenetic changes in normal body cells of BRCA1/BRCA2-mutation negative patients, we have developed a deep bisulfite sequencing assay targeting the promoter regions of 8 tumor suppressor (TS) genes (BRCA1, BRCA2, RAD51C, ATM, PTEN, TP53, MLH1, RB1) and the estrogene receptor gene (ESR1), which plays a role in tumor progression. We analyzed blood samples of two breast cancer (BC) cohorts with early onset (EO) and high risk (HR) for a heterozygous mutation, respectively, along with age-matched controls...
April 16, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29651367/-lazarus-response-to-olaparib-in-a-virtually-chemonaive-breast-cancer-patient-carrying-gross-brca2-gene-deletion
#6
Vladimir M Moiseyenko, Vyacheslav A Chubenko, Fedor V Moiseyenko, Lyudmila A Zagorskaya, Yuliya A Zaytseva, Nataliya E Gesha, Evgeny N Zykov, Valeriya I Ni, Elena V Preobrazhenskaya, Anna P Sokolenko, Evgeny N Imyanitov
This report describes an estrogen receptor-positive breast cancer patient, who relapsed at two and a half years after the completion of adjuvant chemotherapy while being on the aromatase inhibition. Based on the clinical evidence for potential sensitivity of the tumor to hormone ablation, everolimus was added to continuing exemestane treatment. Oral chemotherapy was administered at further disease progression, however, it lasted only for 10 days due to rapidly deteriorating condition of the patient. BRCA test was performed just before the failure of endocrine therapy and revealed a gross deletion within BRCA2 gene...
February 4, 2018: Curēus
https://www.readbyqxmd.com/read/29642776/the-pink-underside-the-commercialization-of-medical-risk-assessment-and-decision-making-tools-for-hereditary-breast-cancer-risk
#7
Sharlene Hesse-Biber, Bailey Flynn, Keeva Farrelly
The growth of the Internet since the millennium has opened up a myriad of opportunities for education, particularly in medicine. Although those looking for health care information used to have to turn to a face-to-face doctor's visit, an immense library of medical advice is now available at their fingertips. The BRCA genetic predispositions (mutations of the BRCA1 and BRCA2 breast cancer genes) which expose men and women to greater risk of breast, ovarian, and other cancers can be researched extensively online...
April 1, 2018: Qualitative Health Research
https://www.readbyqxmd.com/read/29626126/apto-253-is-a-new-addition-to-the-repertoire-of-drugs-that-can-exploit-dna-brca1-2-deficiency
#8
Cheng-Yu Tsai, Si Sun, Hongying Zhang, Andrea Local, Yongxuan Su, Larry A Gross, William G Rice, Stephen B Howell
APTO-253 is a small molecule with anti-proliferative activity against cell lines derived from a wide range of human malignancies. We sought to determine the mechanisms of action and basis for resistance to APTO-253 so as to identify synthetic lethal interactions that can guide combination studies. The cellular pharmacology of APTO-253 was analyzed in Raji lymphoma cells and a subline selected for resistance (Raji/253R). Using LC/MS/ESI analysis, APTO-253 was found to convert intracellularly to a complex containing one molecule of iron and three molecules of APTO-253 [Fe(253)3]...
April 6, 2018: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/29622581/targeting-tissue-factor-for-immunotherapy-of-triple-negative-breast-cancer-using-a-second-generation-icon
#9
Zhiwei Hu, Rulong Shen, Amanda Campbell, Elizabeth L McMichael, Lianbo Yu, Bhuvaneswari Ramaswamy, Cheryl A London, Tian Xu, William E Carson
Triple-negative breast cancer (TNBC) is a leading cause of breast cancer death and is often associated with BRCA1 and BRCA2 mutation. Due to the lack of validated target molecules, no targeted therapy for TNBC is approved. Tissue factor (TF) is a common yet specific surface target receptor for cancer cells, tumor vascular endothelial cells and cancer stem cells in several types of solid cancers including breast cancer. Here we report evidence supporting the idea that TF is a surface target in TNBC. We used in vitro cancer lines and in vivo tumor xenografts in mice, all with BRCA1 or BRCA2 mutations, derived from patients' tumors...
April 5, 2018: Cancer Immunology Research
https://www.readbyqxmd.com/read/29620483/dna-repair-and-cell-cycle-checkpoint-defects-in-a-mouse-model-of-brcaness-are-partially-rescued-by-53bp1-deletion
#10
Sarah M Misenko, Dharm S Patel, Joonyoung Her, Samuel F Bunting
'BRCAness' is a term used to describe cancer cells that behave similarly to tumors with BRCA1 or BRCA2 mutations. The BRCAness phenotype is associated with hypersensitivity to chemotherapy agents including PARP inhibitors, which are a promising class of recently-licensed anti-cancer treatments. This hypersensitivity arises because of a deficiency in the homologous recombination (HR) pathway for DNA double-strand break repair. To gain further insight into how genetic modifiers of HR contribute to the BRCAness phenotype, we created a new mouse model of BRCAness by generating mice that are deficient in BLM helicase and the Exo1 exonuclease, which are involved in the early stages of HR...
April 5, 2018: Cell Cycle
https://www.readbyqxmd.com/read/29618939/-syk-expression-level-distinguishes-control-from-brca1-mutated-lymphocytes
#11
Tamar Zahavi, Amir Sonnenblick, Yael Shimshon, Luna Kadouri, Tamar Peretz, Asher Y Salmon, Mali Salmon-Divon
Background: About 5%-10% of breast cancer and 10%-15% of ovarian cancer are hereditary. BRCA1 and BRCA2 are the most common germline mutations found in both inherited breast and ovarian cancers. Once these mutations are identified and classified, a course of action to reduce the risk of developing either ovarian or breast cancer - including surveillance and surgery - is carried out. Purpose: The purpose of the current research is to characterize the gene expression differences between healthy cells harboring a mutation in BRCA1 /2 genes and normal cells...
2018: Cancer Management and Research
https://www.readbyqxmd.com/read/29617966/mechrna-prediction-of-lncrna-mechanisms-from-rna-rna-and-rna-protein-interactions
#12
Alexander R Gawronski, Michael Uhl, Yajia Zhang, Yen-Yi Lin, Yashar S Niknafs, Varune R Ramnarine, Rohit Malik, Felix Feng, Arul M Chinnaiyan, Colin C Collins, S Cenk Sahinalp, Rolf Backofen
Motivation: Long non-coding RNAs (lncRNAs) are defined as transcripts longer than 200 nucleotides that do not get translated into proteins. Often these transcripts are processed (spliced, capped, polyadenylated) and some are known to have important biological functions. However, most lncRNAs have unknown or poorly understood functions. Nevertheless, because of their potential role in cancer, lncRNAs are receiving a lot of attention, and the need for computational tools to predict their possible mechanisms of action is more than ever...
April 3, 2018: Bioinformatics
https://www.readbyqxmd.com/read/29617652/multifaceted-impact-of-microrna-493-5p-on-genome-stabilizing-pathways-induces-platinum-and-parp-inhibitor-resistance-in-brca2-mutated-carcinomas
#13
Khyati Meghani, Walker Fuchs, Alexandre Detappe, Pascal Drané, Ewa Gogola, Sven Rottenberg, Jos Jonkers, Ursula Matulonis, Elizabeth M Swisher, Panagiotis A Konstantinopoulos, Dipanjan Chowdhury
BRCA1/2-mutated ovarian cancers (OCs) are defective in homologous recombination repair (HRR) of double-strand breaks (DSBs) and thereby sensitive to platinum and PARP inhibitors (PARPis). Multiple PARPis have recently received US Food and Drug Administration (FDA) approval for treatment of OCs, and resistance to PARPis is a major clinical problem. Utilizing primary and recurrent BRCA1/2-mutated carcinomas from OC patients, patient-derived lines, and an in vivo BRCA2-mutated mouse model, we identified a microRNA, miR-493-5p, that induced platinum/PARPi resistance exclusively in BRCA2-mutated carcinomas...
April 3, 2018: Cell Reports
https://www.readbyqxmd.com/read/29611029/randomized-trial-of-proactive-rapid-genetic-counseling-versus-usual-care-for-newly-diagnosed-breast-cancer-patients
#14
Marc D Schwartz, Beth N Peshkin, Claudine Isaacs, Shawna Willey, Heiddis B Valdimarsdottir, Rachel Nusbaum, Gillian Hooker, Suzanne O'Neill, Lina Jandorf, Scott P Kelly, Jessica Heinzmann, Aliza Zidell, Katia Khoury
PURPOSE: Breast cancer patients who carry BRCA1/BRCA2 gene mutations may consider bilateral mastectomy. Having bilateral mastectomy at the time of diagnosis not only reduces risk of a contralateral breast cancer, but can eliminate the need for radiation therapy and yield improved reconstruction options. However, most patients do not receive genetic counseling or testing at the time of their diagnosis. In this trial, we tested proactive rapid genetic counseling and testing (RGCT) in newly diagnosed breast cancer patients in order to facilitate pre-surgical genetic counseling and testing...
April 2, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29610288/plasma-dna-and-metastatic-castration-resistant-prostate-cancer-the-odyssey-to-a-clinical-biomarker-test
#15
Anuradha Jayaram, Daniel Wetterskog, Gerhardt Attard
<b/> Comprehensive plasma DNA analysis identifies clinically actionable genomic aberrations. Cancers harboring disruption of TP53 or BRCA2 or ATM detected in plasma have significantly worse outcomes on novel AR targeting. Cancer Discov; 8(4); 392-4. ©2018 AACR. See related article by Annala et al., p. 444 .
April 2018: Cancer Discovery
https://www.readbyqxmd.com/read/29602379/-recommendations-for-biomarker-testing-in-epithelial-ovarian-cancer-a-national-consensus-statement-by-the-spanish-society-of-pathology-and-the-spanish-society-of-medical-oncology
#16
Ana Oaknin, Rosa Guarch, Pilar Barretina, David Hardisson, Antonio González-Martín, Xavier Matías-Guiu, Alejandro Pérez-Fidalgo, Begoña Vieites, Ignacio Romero, José Palacios
Advances in the understanding of the histological and molecular characteristics of ovarian cancer now allow 5subtypes to be identified, leading to a more refined therapeutic approach and improved clinical trials. Each of the subtypes has specific histological features and a particular biomarker expression, as well as mutations in different genes, some of which have prognostic and predictive value. CA125 and HE4 are examples of ovarian cancer biomarkers used in diagnosis and follow-up. Currently, somatic or germinal mutations on BRCA1 and BRCA2 genes are the most important biomarkers in epithelial ovarian cancer, having prognostic and predictive value...
April 2018: Revista Española de Patología
https://www.readbyqxmd.com/read/29595811/familial-communication-and-cascade-testing-among-relatives-of-brca-population-screening-participants
#17
Sari Lieberman, Amnon Lahad, Ariela Tomer, Sivan Koka, Malka BenUziyahu, Aviad Raz, Ephrat Levy-Lahad
PurposePopulation BRCA1/BRCA2 screening identifies carriers irrespective of family history, yet this information is actionable for relatives. We examined familial communication rates and cascade testing in the screening setting and assessed sociodemographic and psychosocial predictors.MethodsParticipants in a BRCA1/BRCA2 screening study of healthy Ashkenazi Jews self-administered a family communication questionnaire. Intent to communicate was determined before genetic status was known, along with result communication (carriers and noncarriers) 6 months and 2 years after enrollment...
March 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29594659/involvement-and-influence-of-healthcare-providers-family-members-and-other-mutation-carriers-in-the-cancer-risk-management-decision-making-process-of-brca1-and-brca2-mutation-carriers
#18
Athena Puski, Shelly Hovick, Leigha Senter, Amanda Ewart Toland
Deciding between increased cancer screening or prophylactic surgery and the timing of such procedures can be a difficult and complex process for women with BRCA mutations. There are gaps in our understanding of involvement of others in the decision-making process for women with BRCA mutations. This study evaluated the management decision-making process of women with BRCA mutations, focusing on the involvement of others. Grounded theory was used to analyze and code risk management decision-making information from interviews with 20 BRCA mutation carriers...
March 29, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29594222/the-impact-of-the-igf-1-system-of-cancer-cells-on-radiation-response-an-in-vitro-study
#19
Senthiladipan Venkatachalam, Esther Mettler, Christian Fottner, Matthias Miederer, Bernd Kaina, Matthias M Weber
Background: Overexpression of the insulin-like growth factor-1 receptor (IGF-1R) is associated with increased cell proliferation, differentiation, transformation, and tumorigenicity. Additionally, signaling involved in the resistance of cancer cells to radiotherapy originates from IGF-1R. The purpose of this study was to investigate the role of the IGF-1 system in the radiation response and further evaluate its effect on the expression of DNA repair pathway genes. Methods: To inhibit the IGF-1 system, we stably transfected the Caco-2 cell line to express a kinase-deficient IGF-1R mutant...
December 2017: Clinical and Translational Radiation Oncology
https://www.readbyqxmd.com/read/29587661/characteristics-and-outcome-of-the-coeur-canadian-validation-cohort-for-ovarian-cancer-biomarkers
#20
Cécile Le Page, Kurosh Rahimi, Martin Köbel, Patricia N Tonin, Liliane Meunier, Lise Portelance, Monique Bernard, Brad H Nelson, Marcus Q Bernardini, John M S Bartlett, Dimcho Bachvarov, Walter H Gotlieb, Blake Gilks, Jessica N McAlpine, Mark W Nachtigal, Alain Piché, Peter H Watson, Barbara Vanderhyden, David G Huntsman, Diane M Provencher, Anne-Marie Mes-Masson
BACKGROUND: Ovarian carcinoma is the most lethal gynecological malignancy due to early dissemination and acquired resistance to platinum-based chemotherapy. Reliable markers that are independent and complementary to clinical parameters are needed to improve the management of patients with this disease. The Canadian Ovarian Experimental Unified Resource (COEUR) provides researchers with biological material and associated clinical data to conduct biomarker validation studies. Using standards defined by the Canadian Tissue Repository Network (CTRNet), we have previously demonstrated the quality of the biological material from this resource...
March 27, 2018: BMC Cancer
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