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Triple negative breast cancer and brca1-2

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https://www.readbyqxmd.com/read/29615458/an-effective-epigenetic-parp-inhibitor-combination-therapy-for-breast-and-ovarian-cancers-independent-of-brca-mutations
#1
Nicholas Pulliam, Fang Fang, Ali R Ozes, Jessica Tang, Adeoluwa Adewuyi, Harold N Keer, John F Lyons, Stephen B Baylin, Daniela Matei, Harikrishna Nakshatri, Feyruz V Rassool, Kathy D Miller, Kenneth P Nephew
PURPOSE: Poly (ADP-ribose) polymerase (PARP) inhibitors (PARPi) are primarily effective against BRCA1/2-mutated breast and ovarian cancers but resistance due to reversion of mutated BRCA1/2 and other mechanisms is common. Based on previous reports demonstrating a functional role for DNMT1 in DNA repair (DDR) and our previous studies demonstrating DNMTis ability to resensitize tumors to primary therapies, we hypothesized that combining a DNMTi with PARPi would sensitize PARPi resistant breast and ovarian cancers to PARPi therapy, independent of BRCA status...
April 3, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29582690/olaparib-for-the-treatment-of-breast-cancer
#2
Gaia Griguolo, Maria Vittoria Dieci, Valentina Guarneri, PierFranco Conte
Mutations in BRCA1 and BRCA2 genes account for around 2-3% of breast cancer events and more than 10% of triple negative breast cancers. Olaparib (Lynparza®), an orally administered PARP inhibitor, demonstrated clinical benefit in a phase III trial for mutated BRCA-positive HER2 negative metastatic breast cancer. Areas covered: This review gives an overview of available preclinical and clinical data regarding olaparib, including its chemistry, mechanism of action, pharmacokinetics and pharmacodynamics, and evidence supporting antitumor efficacy and safety profile in breast cancer patients...
March 27, 2018: Expert Review of Anticancer Therapy
https://www.readbyqxmd.com/read/29582426/prevalence-of-brca1-2-large-genomic-rearrangements-in-chinese-women-with-sporadic-triple-negative-or-familial-breast-cancer
#3
L Su, J Zhang, H Meng, T Ouyang, J Li, T Wang, Z Fan, T Fan, B Lin, Y Xie
The prevalence of BRCA1/2 large genomic rearrangements (LGRs) and their underlying mechanisms have not been fully evaluated in Chinese women with breast cancer. In this study, we determined the prevalence of BRCA1/2 LGRs in 834 patients with familial breast cancer and 660 patients with sporadic triple-negative breast cancer who were negative for BRCA1/2 small-range mutations using the multiplex ligation-dependent probe amplification method. We found that twenty index patients (2.4%) in the familial breast cancer group carried a BRCA1 or BRCA2 LGR, and the frequencies of BRCA1 and BRCA2 LGRs were 1...
March 27, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29581131/higher-absolute-lymphocyte-counts-predict-lower-mortality-from-early-stage-triple-negative-breast-cancer
#4
Anosheh Afghahi, Natasha Purington, Summer S Han, Manisha Desai, Emma Pierson, Maya B Mathur, Tina Seto, Caroline A Thompson, Joseph Rigdon, Melinda L Telli, Sunil S Badve, Christina Curtis, Robert B West, Kathleen Horst, Scarlett Lin Gomez, James M Ford, George W Sledge, Allison W Kurian
BACKGROUND: Tumor-infiltrating lymphocytes (TILs) in pre-treatment biopsies are associated with improved survival in triple-negative breast cancer (TNBC). We investigated whether higher peripheral lymphocyte counts are associated with lower breast cancer-specific mortality (BCM) and overall mortality (OM) in TNBC. METHODS: Data on treatments and diagnostic tests from electronic medical records of two healthcare systems were linked with demographic, clinical, pathologic, and mortality data from the California Cancer Registry...
March 26, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29567881/expression-of-breast-cancer-type-1-and-its-relation-with-expression-of-estrogen-receptors-progesterone-receptors-and-human-epidermal-growth-factor-receptor-2-neu-in-breast-carcinoma-on-trucut-biopsy-specimens
#5
Deepti Verma, Kiran Agarwal, Sanjeev Kumar Tudu
Objective: (1) The objective is to study the immunohistochemical expression of Breast cancer type 1 (BRCA1) in breast carcinoma on trucut biopsy specimens and (2) To relate its expression with that of estrogen receptors (ER), progesterone receptors (PR), and human epidermal growth factor receptor 2 (HER-2)/neu and the clinicopathological parameters. Settings and Design: A cross-sectional hospital-based study was performed in Lady Hardinge Medical College and Shrimati Sucheta Kriplani Hospital, New Delhi, with collaboration of the Departments of Pathology and Surgery from the period of November 2008 to March 2010...
January 2018: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29522266/gene-panel-testing-of-5589-brca1-2-negative-index-patients-with-breast-cancer-in-a-routine-diagnostic-setting-results-of-the-german-consortium-for-hereditary-breast-and-ovarian-cancer
#6
Jan Hauke, Judit Horvath, Eva Groß, Andrea Gehrig, Ellen Honisch, Karl Hackmann, Gunnar Schmidt, Norbert Arnold, Ulrike Faust, Christian Sutter, Julia Hentschel, Shan Wang-Gohrke, Mateja Smogavec, Bernhard H F Weber, Nana Weber-Lassalle, Konstantin Weber-Lassalle, Julika Borde, Corinna Ernst, Janine Altmüller, Alexander E Volk, Holger Thiele, Verena Hübbel, Peter Nürnberg, Katharina Keupp, Beatrix Versmold, Esther Pohl, Christian Kubisch, Sabine Grill, Victoria Paul, Natalie Herold, Nadine Lichey, Kerstin Rhiem, Nina Ditsch, Christian Ruckert, Barbara Wappenschmidt, Bernd Auber, Andreas Rump, Dieter Niederacher, Thomas Haaf, Juliane Ramser, Bernd Dworniczak, Christoph Engel, Alfons Meindl, Rita K Schmutzler, Eric Hahnen
The prevalence of germ line mutations in non-BRCA1/2 genes associated with hereditary breast cancer (BC) is low, and the role of some of these genes in BC predisposition and pathogenesis is conflicting. In this study, 5589 consecutive BC index patients negative for pathogenic BRCA1/2 mutations and 2189 female controls were screened for germ line mutations in eight cancer predisposition genes (ATM, CDH1, CHEK2, NBN, PALB2, RAD51C, RAD51D, and TP53). All patients met the inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for germ line testing...
March 9, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29514593/prevalence-of-pathogenic-brca1-2-germline-mutations-among-802-women-with-unilateral-triple-negative-breast-cancer-without-family-cancer-history
#7
Christoph Engel, Kerstin Rhiem, Eric Hahnen, Sibylle Loibl, Karsten E Weber, Sabine Seiler, Silke Zachariae, Jan Hauke, Barbara Wappenschmidt, Anke Waha, Britta Blümcke, Marion Kiechle, Alfons Meindl, Dieter Niederacher, Claus R Bartram, Dorothee Speiser, Brigitte Schlegelberger, Norbert Arnold, Peter Wieacker, Elena Leinert, Andrea Gehrig, Susanne Briest, Karin Kast, Olaf Riess, Günter Emons, Bernhard H F Weber, Jutta Engel, Rita K Schmutzler
BACKGROUND: There is no international consensus up to which age women with a diagnosis of triple-negative breast cancer (TNBC) and no family history of breast or ovarian cancer should be offered genetic testing for germline BRCA1 and BRCA2 (gBRCA) mutations. Here, we explored the association of age at TNBC diagnosis with the prevalence of pathogenic gBRCA mutations in this patient group. METHODS: The study comprised 802 women (median age 40 years, range 19-76) with oestrogen receptor, progesterone receptor, and human epidermal growth factor receptor type 2 negative breast cancers, who had no relatives with breast or ovarian cancer...
March 7, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29484502/p63-isoforms-in-triple-negative-breast-cancer-%C3%AE-np63-associates-with-the-basal-phenotype-whereas-tap63-associates-with-androgen-receptor-lack-of-brca-mutation-pten-and-improved-survival
#8
Philip J Coates, Rudolf Nenutil, Jitka Holcakova, Marta Nekulova, Jan Podhorec, Marek Svoboda, Borivoj Vojtesek
The TP63 gene encodes two major protein variants that differ in their N-terminal sequences and have opposing effects. In breast, ΔNp63 is expressed by immature stem/progenitor cells and mature myoepithelial/basal cells and is a characteristic feature of basal-like triple-negative breast cancers (TNBCs). The expression and potential role of TAp63 in the mammary gland and breast cancers is less clear, partly due to the lack of studies that employ p63 isoform-specific antibodies. We used immunohistochemistry with ΔNp63-specific or TAp63-specific monoclonal antibodies to investigate p63 isoforms in 236 TNBCs...
February 27, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29463559/capecitabine-efficacy-is-correlated-with-tymp-and-rb-expression-in-pdx-established-from-triple-negative-breast-cancers
#9
Elisabetta Marangoni, Cécile Laurent, Florence Coussy, Rania El Botty, Sophie Chateau-Joubert, Jean-Luc Servely, Ludmilla de Plater, Franck Assayag, Ahmed Dahmani, Elodie Montaudon, Fariba Némati, Justine Fleury, Sophie Vacher, David Gentien, Audrey Rapinat, Pierre Foidart, Nor Eddine Sounni, Agnès Noël, Anne Salomon, Marick Lae, Didier Decaudin, Sergio Roman-Roman, Ivan Bièche, Martine Piccard, Fabien Reyal
PURPOSE: triple-negative breast cancer (TNBC) patients with residual disease after neoadjuvant chemotherapy have a poor outcome. We developed patient-derived xenografts (PDX) from residual tumors to identify efficient chemotherapies and predictive biomarkers in a context of resistance to anthracyclines and taxanes-based treatments. EXPERIMENTAL DESIGN: PDX were established from residual tumors of primary breast cancer patients treated in neoadjuvant setting. TNBC PDX were treated by anthracyclines, taxanes, platins and capecitabine...
February 20, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29453630/somatic-brca1-mutations-in-clinically-sporadic-breast-cancer-with-medullary-histological-features
#10
Markus Rechsteiner, Konstantin Dedes, Daniel Fink, Bernhard Pestalozzi, Bettina Sobottka, Holger Moch, Peter Wild, Zsuzsanna Varga
BACKGROUND: The role of somatic BRCA1/2 gene mutations in breast cancer is getting increasing attention in view of hereditary disease. The medullary phenotype and triple negative intrinsic subtypes are often, but not exclusively encountered in BRCA1 germline mutated breast cancer, whilst for BRCA2, no association to specific histological features are known. In this study, we addressed the relationship between morphological medullary phenotype and BRCA1/2 somatic mutations in breast cancer without known positive family anamnesis...
February 17, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29409476/germline-brca1-brca2-mutations-among-high-risk-breast-cancer-patients-in-jordan
#11
Hikmat Abdel-Razeq, Amal Al-Omari, Farah Zahran, Banu Arun
BACKGROUND: Breast cancer is the most common malignancy and the leading cause of cancer-related deaths among Jordanian women. With a median age of 50 years at diagnosis, a higher prevalence of hereditary breast cancer may be expected. The objective of this pilot study is to evaluate, for the first time, the contribution of germline mutations in BRCA1/2 to breast cancer among Jordanian patients. METHODS: Jordanian breast cancer women with a selected high risk profile were invited to participate...
February 6, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29337092/germline-brca-mutation-and-outcome-in-young-onset-breast-cancer-posh-a-prospective-cohort-study
#12
Ellen R Copson, Tom C Maishman, Will J Tapper, Ramsey I Cutress, Stephanie Greville-Heygate, Douglas G Altman, Bryony Eccles, Sue Gerty, Lorraine T Durcan, Louise Jones, D Gareth Evans, Alastair M Thompson, Paul Pharoah, Douglas F Easton, Alison M Dunning, Andrew Hanby, Sunil Lakhani, Ros Eeles, Fiona J Gilbert, Hisham Hamed, Shirley Hodgson, Peter Simmonds, Louise Stanton, Diana M Eccles
BACKGROUND: Retrospective studies provide conflicting interpretations of the effect of inherited genetic factors on the prognosis of patients with breast cancer. The primary aim of this study was to determine the effect of a germline BRCA1 or BRCA2 mutation on breast cancer outcomes in patients with young-onset breast cancer. METHODS: We did a prospective cohort study of female patients recruited from 127 hospitals in the UK aged 40 years or younger at first diagnosis (by histological confirmation) of invasive breast cancer...
February 2018: Lancet Oncology
https://www.readbyqxmd.com/read/29335924/brca1-and-brca2-germline-variants-in-breast-cancer-patients-from-the-republic-of-macedonia
#13
Milena Jakimovska, Ivana Maleva Kostovska, Katerina Popovska-Jankovic, Katerina Kubelka-Sabit, Mitko Karadjozov, Liljana Stojanovska, Andreja Arsovski, Snezhana Smichkoska, Emilija Lazarova, Maja Jakimovska Dimitrovska, Dijana Plaseska-Karanfilska
PURPOSE: We aimed to establish the spectrum of BRCA1/2 mutations among the breast cancer (BC) patients from the Republic of Macedonia. METHODS: We used targeted next-generation sequencing (NGS), Sanger DNA sequencing, and multiplex ligation probe amplification analysis (MLPA) to search for point mutations and deletions/duplications involving BRCA1 and BRCA2-coding regions. RESULTS: We have analyzed a total of 313 BC patients, enriched for family history of cancer, early age of onset and bilateral and/or triple negative (TN) BC...
April 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29310340/the-first-case-report-of-a-large-deletion-of-the-brca1-gene-in-croatia-a-case-report
#14
Vesna Musani, Ilona Sušac, Petar Ozretić, Domagoj Eljuga, Sonja Levanat
RATIONALE: Breast cancer is one of the most common cancers in women, and it is the leading cause of cancer related deaths in Croatia. BRCA1 and BRCA2 gene mutations are the most common cause of hereditary breast cancer. PATIENT CONCERNS: In this report we describe a Croatian patient with no apparent family history of cancer, who developed breast cancer first at 29, and again at 33. DIAGNOSIS: Due to the early development of first breast cancer and triple negative status of the second, the attending physician suspected a hereditary aspect...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29282689/brca-gene-mutations-and-poly-adp-ribose-polymerase-inhibitors-in-triple-negative-breast-cancer
#15
Hitomi Sumiyoshi Okuma, Kan Yonemori
Breast cancer is the most common cancer in women worldwide. Treatment is chosen according to its hormone receptor status and human epidermal growth factor receptor 2 (HER2) status. Among the four main clinically set subtypes, hormone receptor-negative/HER2-negative subtype, also called triple-negative subtype (TNBC), is the most aggressive type with limited choices of therapy. However, recent research has provided important new insights into effective treatments for this subtype. One molecular target that has gained attention is the BRCA gene...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29276409/expression-profile-analysis-of-long-noncoding-rna-in-er-positive-subtype-breast-cancer-using-microarray-technique-and-bioinformatics
#16
Jing Peng, Lei Zhang, Chenwei Yuan, Liheng Zhou, Shuguang Xu, Yanping Lin, Jie Zhang, Wenjin Yin, Jinsong Lu
Background: The estrogen receptor (ER)-positive subtype of breast cancer (BC) is the most common type of BC. A number of long noncoding RNAs (lncRNAs) play critical roles in cancer biology, including BC. Previous lncRNA profiling studies have focused only on triple-negative BC and HER 2-positive BC, and no studies have specifically focused on lncRNAs in ER-positive BC. In this study, we analyzed the expression profile of the lncRNAs and mRNAs found in this particular subtype of BC for the first time...
2017: Cancer Management and Research
https://www.readbyqxmd.com/read/29275435/homologous-recombination-deficiency-hrd-status-predicts-response-to-standard-neoadjuvant-chemotherapy-in-patients-with-triple-negative-or-brca1-2-mutation-associated-breast-cancer
#17
Melinda L Telli, Jessica Hellyer, William Audeh, Kristin C Jensen, Shikha Bose, Kirsten M Timms, Alexander Gutin, Victor Abkevich, Rebecca N Peterson, Chris Neff, Elisha Hughes, Zaina Sangale, Joshua Jones, Anne-Renee Hartman, Pei-Jen Chang, Shaveta Vinayak, Richard Wenstrup, James M Ford
PURPOSE: Defects in the homologous recombination (HR) DNA repair pathway sensitize tumors to therapeutics that target this pathway. A significant proportion of triple-negative breast cancers (TNBC) carry HR defects. The HRD assay is highly associated with sensitivity to neoadjuvant platinum-based chemotherapy in TNBC. Standard chemotherapy consists of some combination of an anthracycline, cyclophosphamide, and taxane. This study assesses the association of HR deficiency status with response to standard neoadjuvant chemotherapy in TNBC or BRCA1/2 mutation-associated breast cancer...
April 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29275357/evaluation-of-the-relative-effectiveness-of-the-2017-updated-manchester-scoring-system-for-predicting-brca1-2-mutations-in-a-southeast-asian-country
#18
Winston Chew, Rajesh Babu Moorakonda, Eliza Courtney, Hazel Soh, Shao Tzu Li, Yanni Chen, Tarryn Shaw, John Carson Allen, Dafydd Gareth R Evans, Joanne Ngeow
BACKGROUND: Germline mutations in the BRCA 1 and BRCA 2 genes have significant clinical implications for both risk-reducing and early surveillance management. The third and most recent revision of the Manchester scoring system (MSS3) used to distinguish patients indicated for germline BRCA1/2 testing included further adjustments for triple negative breast cancer, high-grade serous ovarian cancer and human epidermal growth factor 2 (HER2) receptor status. This study aims to evaluate the relative effectiveness of MSS3 in a Southeast Asian population...
December 23, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29215753/combined-annotation-dependent-depletion-score-for-brca1-2-variants-in-patients-with-breast-and-or-ovarian-cancer
#19
Hiroshi Nakagomi, Hitoshi Mochizuki, Masayuki Inoue, Yosuke Hirotsu, Kenji Amemiya, Ikuko Sakamoto, Satoko Nakagomi, Takeo Kubota, Masao Omata
Utility of combined annotation-dependent depletion (CADD) score was recently reported to rank pathogenicity as C-scores ranging 1-99 for both confirmed deleterious mutation. Using C-scores for BRCA1/2 variants, we tried to constitute the classification system for variant of uncertain significance (VUS), which had been a major problem of genetic testing for hereditary breast and/or ovarian cancer. We analyzed BRCA1/2 genes for 283 patients with breast and/or ovarian cancer. The deleterious mutation and missesne mutations, minor variant, and wild type of BRCA1 and -2 were 5, 27, 251 and 15, 85, 183, respectively...
February 2018: Cancer Science
https://www.readbyqxmd.com/read/29214031/parp-inhibitors-as-potential-therapeutic-agents-for-various-cancers-focus-on-niraparib-and-its-first-global-approval-for-maintenance-therapy-of-gynecologic-cancers
#20
REVIEW
Mekonnen Sisay, Dumessa Edessa
Poly (ADP-ribose) polymerases (PARPs) are an important family of nucleoproteins highly implicated in DNA damage repair. Among the PARP families, the most studied are PARP1, PARP2 and PARP 3. PARP1 is found to be the most abundant nuclear enzyme under the PARP series. These enzymes are primarily involved in base excision repair as one of the major single strand break (SSB) repair mechanisms. Being double stranded, DNA engages itself in reparation of a sub-lethal SSB with the aid of PARP. Moreover, by having a sister chromatid, DNA can also repair double strand breaks with either error-free homologous recombination or error-prone non-homologous end-joining...
2017: Gynecologic Oncology Research and Practice
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