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Triple negative breast cancer and brca1-2

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https://www.readbyqxmd.com/read/29453630/somatic-brca1-mutations-in-clinically-sporadic-breast-cancer-with-medullary-histological-features
#1
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
#2
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
#3
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...
January 11, 2018: Lancet Oncology
https://www.readbyqxmd.com/read/29335924/brca1-and-brca2-germline-variants-in-breast-cancer-patients-from-the-republic-of-macedonia
#4
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...
January 15, 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
#5
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
#6
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
#7
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
#8
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...
December 23, 2017: 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
#9
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 BRCA1 and BRCA2 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-cadd-score-for-brca1-2-variants-in-patients-with-breast-and-or-ovarian-cancer
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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