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Triple negative breast cancer and brca1-2

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https://www.readbyqxmd.com/read/29215753/combined-annotation-dependent-depletion-cadd-score-for-brca1-2-variants-in-patients-with-breast-and-or-ovarian-cancer
#1
Hiroshi Nakagomi, Hitoshi Mochizuki, Masayuki Inoue, Yosuke Hirotsu, Kenji Amemiya, Ikuko Sakamoto, Satoko Nakagomi, Takeo Kubota, Masao Omata
The utility of Combined Annotation Dependent Depletion (CADD) Score was recently reported to rank the pathogenicity as C-scores ranging 1 to 99 for both convinced deleterious mutations and missense mutations. Using C-scores for BRCA1/2 variants, we tried to constitute the classification system for Variant of Uncertain Significance (VUS), which had been major problem of genetic testing for Hereditary Breast and/or Ovarian Cancer (HBOC). We analyzed BRCA1/2 genes for 283 patients with breast and/or ovarian cancer...
December 7, 2017: 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
#2
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
https://www.readbyqxmd.com/read/29202330/genetic-alterations-in-sporadic-triple-negative-breast-cancer
#3
Laura-Ancuta Pop, Roxana-Maria Cojocneanu-Petric, Valentina Pileczki, Gabriela Morar-Bolba, Alexandru Irimie, Vladimir Lazar, Claudio Lombardo, Angelo Paradiso, Ioana Berindan-Neagoe
BACKGROUND: Recent studies have aimed to identify gene mutation profiles to explain the cause of TNBC therapy limitations. METHODS: The purpose of our study was to use Next Generation Sequencing (NGS) of 46 genes with a well-defined role in cancer in a cohort of TNBC patients in order to identify novel markers that could lead to the development of strategic, adjuvant, gene-targeted therapies. RESULTS: A total of 118 gene mutations in 35 genes, 75 mutations in BRCA1 and 92 mutations in BRCA2 were identified...
December 1, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/29176636/genetic-and-clinical-characteristics-in-japanese-hereditary-breast-and-ovarian-cancer-first-report-after-establishment-of-hboc-registration-system-in-japan
#4
Masami Arai, Shiro Yokoyama, Chie Watanabe, Reiko Yoshida, Mizuho Kita, Megumi Okawa, Akihiro Sakurai, Masayuki Sekine, Junko Yotsumoto, Hiroyuki Nomura, Yoshinori Akama, Mayuko Inuzuka, Tadashi Nomizu, Takayuki Enomoto, Seigo Nakamura
The hereditary breast and ovarian cancer (HBOC) registration system of Japan was established by the Japanese HBOC Consortium. The first trial was registered in 2015 in four institutions to which some registration committee members belonged. We analyzed the information of 830 Japanese pedigrees, who underwent BRCA1/2 genetic testing, including mutation carriers with BRCA1 (N = 127) and BRCA2 (N = 115), and their families. The mutation-positive rate was 19.7%. Variants of uncertain significance were found in 6...
November 8, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29152070/the-role-of-brca-status-on-prognosis-in-patients-with-triple-negative-breast-cancer
#5
Yuxin Xie, Qiheng Gou, Qianqian Wang, Xiaorong Zhong, Hong Zheng
Studies have showed that dysfunction in the breast cancer susceptibility gene (BRCA) is associated with triple-negative breast cancer (TNBC); however, its effect on patient survival remains controversial. We investigated the distribution of BRCA1/2 mutations in unselected Chinese patients with TNBC and explored their roles in prognosis. Then a systematic review and meta-analysis were performed to evaluate the prognostic role of BRCA dysfunction, including BRCA1/2 germline/somatic mutations, BRCA1 promoter methylation, and low BRCA1 protein expression in TNBC patients...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29116469/brca1-deficiency-is-a-recurrent-event-in-early-onset-triple-negative-breast-cancer-a-comprehensive-analysis-of-germline-mutations-and-somatic-promoter-methylation
#6
Rafael Canfield Brianese, Kivvi Duarte de Mello Nakamura, Fernanda Gabriella Dos Santos Ramos de Almeida, Rodrigo Fernandes Ramalho, Bruna Durães de Figueiredo Barros, Elisa Napolitano E Ferreira, Maria Nirvana da Cruz Formiga, Victor Piana de Andrade, Vladmir Claudio Cordeiro de Lima, Dirce Maria Carraro
PURPOSE: BRCA1 germline mutation is closely associated with triple-negative breast cancer. BRCA deficiency leads to impaired DNA repair and tumor development, and understanding this deficiency, in both hereditary and sporadic scenarios, is of great clinical and biological interest. Here, we investigated germline or somatic events that might lead to BRCA1 impairment in triple-negative breast cancer. We also analyzed the clinical implications associated with BRCA deficiency. METHODS: Next-generation sequencing for the BRCA1/2 genes and multiplex ligation-dependent probe amplification (MLPA) for the BRCA1 gene were performed for mutation screening...
November 7, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29108297/phase-i-ib-study-of-olaparib-and-carboplatin-in-women-with-triple-negative-breast-cancer
#7
Jung-Min Lee, John L Hays, Victoria L Chiou, Christina M Annunziata, Elizabeth M Swisher, Maria I Harrell, Minshu Yu, Nicolas Gordon, Tristan M Sissung, Jiuping Ji, William D Figg, Lori Minasian, Stanley Lipkowitz, Bradford J Wood, James Doroshow, Elise C Kohn
PURPOSE: To investigate the safety, activity, and potential biomarkers of response to olaparib and carboplatin combination in sporadic triple negative breast cancer (TNBC). EXPERIMENTAL DESIGN: Metastatic or recurrent TNBC patients with no germline BRCA mutation or with BRCAPro scores <10% and a negative family history were eligible. A 3+3 dose escalation tested olaparib capsules (400mg bid, days1-7) with carboplatin AUC3-5 on day1 or 2 every 21 days, ≤ 8 cycles, with olaparib 400mg bid maintenance...
October 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29096610/therapy-response-testing-of-breast-cancer-in-a-3d-high-throughput-perfused-microfluidic-platform
#8
Henriette L Lanz, Anthony Saleh, Bart Kramer, Junmei Cairns, Chee Ping Ng, Jia Yu, Sebastiaan J Trietsch, Thomas Hankemeier, Jos Joore, Paul Vulto, Richard Weinshilboum, Liewei Wang
BACKGROUND: Breast cancer is the most common invasive cancer among women. Currently, there are only a few models used for therapy selection, and they are often poor predictors of therapeutic response or take months to set up and assay. In this report, we introduce a microfluidic OrganoPlate® platform for extracellular matrix (ECM) embedded tumor culture under perfusion as an initial study designed to investigate the feasibility of adapting this technology for therapy selection. METHODS: The triple negative breast cancer cell lines MDA-MB-453, MDA-MB-231 and HCC1937 were selected based on their different BRCA1 and P53 status, and were seeded in the platform...
November 2, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29093017/a-population-of-heterogeneous-breast-cancer-patient-derived-xenografts-demonstrate-broad-activity-of-parp-inhibitor-in-brca1-2-wild-type-tumors
#9
Kurt W Evans, Erkan Yuca, Argun Akcakanat, Stephen M Scott, Natalia Paez Arango, Xiaofeng Zheng, Ken Chen, Coya Tapia, Emily Tarco, Agda K Eterovic, Dalliah M Black, Jennifer K Litton, Timothy A Yap, Debu Tripathy, Gordon B Mills, Funda Meric-Bernstam
Background: Breast cancer patients who do not respond to neoadjuvant therapy have a poor prognosis. There is a pressing need for novel targets and models for preclinical testing. Here we report characterization of breast cancer patient-derived xenografts (PDX) largely generated from residual tumors following neoadjuvant chemotherapy.Experimental Design: PDXs were derived from surgical samples of primary or locally recurrent tumors. Normal and tumor DNA sequencing, RNASeq, and reverse phase protein arrays (RPPA) were performed...
November 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29063517/parp-inhibitors-in-the-treatment-of-triple-negative-breast-cancer
#10
REVIEW
Jill J J Geenen, Sabine C Linn, Jos H Beijnen, Jan H M Schellens
Breast cancer is a heterogeneous disease, manifesting in a broad differentiation in phenotypes and morphologic profiles, resulting in variable clinical behavior. Between 10 and 20% of all breast cancers are triple negative. Triple-negative breast cancer (TNBC) lacks the expression of human epidermal growth factor receptor 2 (HER2) and hormone receptors; therefore, to date, chemotherapy remains the backbone of treatment. TNBC tends to be aggressive and has a high histological grade, resulting in a poor 5-year prognosis...
October 23, 2017: Clinical Pharmacokinetics
https://www.readbyqxmd.com/read/28977883/targeted-exome-sequencing-of-korean-triple-negative-breast-cancer-reveals-homozygous-deletions-associated-with-poor-prognosis-of-adjuvant-chemotherapy-treated-patients
#11
Hae Min Jeong, Ryong Nam Kim, Mi Jeong Kwon, Ensel Oh, Jinil Han, Se Kyung Lee, Jong-Sun Choi, Sara Park, Seok Jin Nam, Gyung Yup Gong, Jin Wu Nam, Doo Ho Choi, Hannah Lee, Byung-Ho Nam, Yoon-La Choi, Young Kee Shin
Triple-negative breast cancer is characterized by the absence of estrogen and progesterone receptors and human epidermal growth factor receptor 2, and is associated with a poorer outcome than other subtypes of breast cancer. Moreover, there are no accurate prognostic genes or effective therapeutic targets, thereby necessitating continued intensive investigation. This study analyzed the genetic mutation landscape in 70 patients with triple-negative breast cancer by targeted exome sequencing of tumor and matched normal samples...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28948212/dna-repair-deficiency-biomarkers-and-the-70-gene-ultra-high-risk-signature-as-predictors-of-veliparib-carboplatin-response-in-the-i-spy-2-breast-cancer-trial
#12
Denise M Wolf, Christina Yau, Ashish Sanil, Annuska Glas, Emanuel Petricoin, Julia Wulfkuhle, Tesa M Severson, Sabine Linn, Lamorna Brown-Swigart, Gillian Hirst, Meredith Buxton, Angela DeMichele, Nola Hylton, Fraser Symmans, Doug Yee, Melissa Paoloni, Laura Esserman, Don Berry, Hope Rugo, Olufunmilayo Olopade, Laura van 't Veer
Veliparib combined with carboplatin (VC) was an experimental regimen evaluated in the biomarker-rich neoadjuvant I-SPY 2 trial for breast cancer. VC showed improved efficacy in the triple negative signature. However, not all triple negative patients achieved pathologic complete response and some HR+HER2- patients responded. Pre-specified analysis of five DNA repair deficiency biomarkers (BRCA1/2 germline mutation; PARPi-7, BRCA1ness, and CIN70 expression signatures; and PARP1 protein) was performed on 116 HER2- patients (VC: 72 and concurrent controls: 44)...
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/28929593/efficacy-of-anthracycline-taxane-based-neo-adjuvant-chemotherapy-on-triple-negative-breast-cancer-in-brca1-brca2-mutation-carriers
#13
Lucie Bignon, Jean-Pierre Fricker, Catherine Nogues, Emmanuelle Mouret-Fourme, Dominique Stoppa-Lyonnet, Olivier Caron, Alain Lortholary, Laurence Faivre, Christine Lasset, Veronique Mari, Paul Gesta, Laurence Gladieff, Akila Hamimi, Thierry Petit, Michel Velten
This study aims to estimate the pathologic complete response (pCR) rate after neo-adjuvant chemotherapy and to compare disease-free survival (DFS) and overall survival (OS) between pCR and non-pCR groups of patients with triple-negative breast cancer (TNBC) and deleterious BRCA1 or BRCA2 mutation. We carried out a retrospective analysis of 53 patients including 46 BRCA1, 6 BRCA2, and 1 combined BRCA1 and BRCA2 mutation. All patients had been diagnosed with triple-negative breast cancer (TNBC) between 1997 and 2014...
September 19, 2017: Breast Journal
https://www.readbyqxmd.com/read/28851423/the-brca1ness-signature-is-associated-significantly-with-response-to-parp-inhibitor-treatment-versus-control-in-the-i-spy-2-randomized-neoadjuvant-setting
#14
Tesa M Severson, Denise M Wolf, Christina Yau, Justine Peeters, Diederik Wehkam, Philip C Schouten, Suet-Feung Chin, Ian J Majewski, Magali Michaut, Astrid Bosma, Bernard Pereira, Tycho Bismeijer, Lodewyk Wessels, Carlos Caldas, René Bernards, Iris M Simon, Annuska M Glas, Sabine Linn, Laura van 't Veer
BACKGROUND: Patients with BRCA1-like tumors correlate with improved response to DNA double-strand break-inducing therapy. A gene expression-based classifier was developed to distinguish between BRCA1-like and non-BRCA1-like tumors. We hypothesized that these tumors may also be more sensitive to PARP inhibitors than standard treatments. METHODS: A diagnostic gene expression signature (BRCA1ness) was developed using a centroid model with 128 triple-negative breast cancer samples from the EU FP7 RATHER project...
August 25, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28822007/brca1-like-profile-is-not-significantly-associated-with-survival-benefit-of-non-myeloablative-intensified-chemotherapy-in-the-gain-randomized-controlled-trial
#15
A G J van Rossum, P C Schouten, K E Weber, V Nekljudova, C Denkert, C Solbach, C H Köhne, C Thomssen, H Forstbauer, G Hoffmann, A Kohls, S Schmatloch, C Schem, G von Minckwitz, T Karn, V J Möbus, S C Linn, S Loibl, F Marmé
PURPOSE: The BRCA1-like profile identifies tumors with a defect in homologous recombination due to inactivation of BRCA1. This profile has been shown to predict which stage III breast cancer patients benefit from myeloablative, DNA double-strand-break-inducing chemotherapy. We tested the predictive potential of the BRCA1-like profile for adjuvant non-myeloablative, intensified dose-dense chemotherapy in the GAIN trial. METHODS: Lymph node positive breast cancer patients were randomized to 3 × 3 dose-dense cycles of intensified epirubicin, paclitaxel, and cyclophosphamide (ETC) or 4 cycles concurrent epirubicin and cyclophosphamide followed by 10 cycles of weekly paclitaxel combined with 4 cycles capecitabine (EC-TX)...
August 18, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28810532/plga-ctab-curcumin-nanoparticles-fabrication-characterization-and-molecular-basis-of-anticancer-activity-in-triple-negative-breast-cancer-cell-lines-mda-mb-231-cells
#16
Ramovatar Meena, Sumit Kumar, Raj Kumar, Usha Singh Gaharwar, Paulraj Rajamani
Triple-negative breast cancers (TNBC) are aggressive cancers, which do not control by hormonal therapy or therapies that target HER-2 receptors. Curcumin (Cur) has shown cytotoxic effects in multiple cancer cell lines. However, its medical uses remain limited due to low aqueous solubility and poor bioavailability. Therefore, present study was aimed to fabricate the small positive charge curcumin nanoparticles (CN) by nanoprecipitation methods using PLGA and CTAB, and to evaluate its anticancer efficacy and underlying the mechanism in triple negative breast cancer cell lines (MDA-MB-231 cells)...
October 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28744749/a-functional-brca1-coding-sequence-genetic-variant-contributes-to-prognosis-of-triple-negative-breast-cancer-especially-after-radiotherapy
#17
Meng Shi, Fei Ma, Jibing Liu, Huaixin Xing, Hui Zhu, Jinming Yu, Ming Yang
PURPOSE: As a subtype of breast cancer, triple-negative breast cancer (TNBC) shows poor prognosis and high heterogeneity. Precise identification of TNBC subgroups relevant to clinical prognosis is crucial in the design and administration of individualized treatments. This study aimed to evaluate the prognostic value of the functional BRCA1 rs799917 genetic variant in TNBC. METHODS: Associations between the rs799917 polymorphism and progression risk were investigated after genotyping 370 TNBC patients...
July 25, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28725277/sabcs-2016-systemic-therapy-for-metastatic-breast-cancer
#18
REVIEW
Simon Peter Gampenrieder, Gabriel Rinnerthaler, Richard Greil
At the 2016 San Antonio Breast Cancer Symposium, several interesting phase II and phase III studies investigating systemic therapies for metastatic breast cancer were presented. The PrEGOC 0102 trial demonstrated that the combination of fulvestrant plus everolimus is safe and effective and could be an alternative to exemestane plus everolimus for selected patients with hormone-receptor positive, HER2-negative disease. The pan-PI3K inhibitor buparlisib showed some activity in combination with fulvestrant after failure of everolimus in the BELLE-3 trial...
2017: Memo
https://www.readbyqxmd.com/read/28724667/germline-mutations-in-cancer-susceptibility-genes-in-a-large-series-of-unselected-breast-cancer-patients
#19
Jie Sun, Hua Meng, Lu Yao, Meng Lv, Jian Bai, Jianguang Zhang, Lientu Wang, Tao Ouyang, Jinfeng Li, Tianfeng Wang, Zhaoqing Fan, Tie Fan, Benyao Lin, Yuntao Xie
Purpose: The prevalence of mutations in cancer susceptibility genes such as BRCA1 and BRCA2 and other cancer susceptibility genes and their clinical relevance are largely unknown among a large series of unselected breast cancer patients in the Chinese population.Experimental Design: A total of 8,085 consecutive unselected Chinese breast cancer patients were enrolled. Germline mutations in 46 cancer susceptibility genes were detected using a 62-gene panel.Results: Pathogenic mutations were identified in 9.2% of patients among the 8,085 unselected breast cancer patients...
October 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28715532/germline-mutation-status-pathological-complete-response-and-disease-free-survival-in-triple-negative-breast-cancer-secondary-analysis-of-the-geparsixto-randomized-clinical-trial
#20
RANDOMIZED CONTROLLED TRIAL
Eric Hahnen, Bianca Lederer, Jan Hauke, Sibylle Loibl, Sandra Kröber, Andreas Schneeweiss, Carsten Denkert, Peter A Fasching, Jens U Blohmer, Christian Jackisch, Stefan Paepke, Bernd Gerber, Sherko Kümmel, Christian Schem, Guido Neidhardt, Jens Huober, Kerstin Rhiem, Serban Costa, Janine Altmüller, Claus Hanusch, Holger Thiele, Volkmar Müller, Peter Nürnberg, Thomas Karn, Valentina Nekljudova, Michael Untch, Gunter von Minckwitz, Rita K Schmutzler
Importance: The GeparSixto trial provided evidence that the addition of neoadjuvant carboplatin to a regimen consisting of anthracycline, taxane, and bevacizumab increases pathological complete response (pCR) rates in patients with triple-negative breast cancer (TNBC). Whether BRCA1 and BRCA2 germline mutation status affects treatment outcome remains elusive. Objective: To determine whether BRCA1 and BRCA2 germline mutation status affects therapy response in patients with TNBC...
October 1, 2017: JAMA Oncology
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