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Breast cancer genomic testing

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https://www.readbyqxmd.com/read/27903675/a-pam50-based-chemo-endocrine-score-for-hormone-receptor-positive-breast-cancer-with-an-intermediate-risk-of-relapse
#1
Aleix Prat, Ana Lluch, Arran K Turnbull, Anita K Dunbier, Lourdes Calvo, Joan Albanell, Juan de la Haba-Rodríguez, Angels Arcusa, Ignacio Chacón, Pedro Sánchez-Rovira, Arrate Plazaola, Montse Muñoz, Laia Paré, Joel S Parker, Nuria Ribelles, Begona Jimenez, Abdul Aziz Bin Aiderus, Rosalía Caballero, Barbara Adamo, Mitch Dowsett, Eva M Carrasco, Miguel Martín, J Michael Dixon, Charles M Perou, Emilio Alba
PURPOSE: Hormone receptor-positive (HR+) breast cancer is clinically and biologically heterogeneous and subgroups with different prognostic and treatment sensitivities need to be identified. EXPERIMENTAL DESIGN: Research-based PAM50 subtyping and expression of additional genes was performed on 63 patients with HR+/HER2- disease randomized to neoadjuvant multi-agent chemotherapy versus endocrine therapy in a phase II trial. The biology associated with treatment response was used to derive a PAM50-based Chemo-Endocrine Score (CES)...
November 30, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27899188/familial-prostate-cancer
#2
Veda N Giri, Jennifer L Beebe-Dimmer
Prostate cancer is the most commonly diagnosed cancer among men in the United States as well as most Western countries. A significant proportion of men report having a positive family history of prostate cancer in a first-degree relative (father, brother, son), which is important in that family history is one of the only established risk factors for the disease and plays a role in decision-making for prostate cancer screening. Familial aggregation of prostate cancer is considered a surrogate marker of genetic susceptibility to developing the disease, but shared environment cannot be excluded as an explanation for clustering of cases among family members...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27895805/blood-based-dna-methylation-as-biomarker-for-breast-cancer-a-systematic-review
#3
REVIEW
Qiuqiong Tang, Jie Cheng, Xue Cao, Harald Surowy, Barbara Burwinkel
Multiple studies have investigated global DNA methylation profiles and gene-specific DNA methylation in blood-based DNA to develop powerful screening markers for cancer. This systematic review summarizes the current evidence on methylation studies that investigated methylation level of blood-derived DNA of breast cancer (BC) patients in comparison to healthy controls by conducting a systematic literature review in PubMed and Web of Science. Essential results, such as methylation levels of BC cases and healthy controls, p values, and odds ratios, were extracted from these studies by two investigators independently...
2016: Clinical Epigenetics
https://www.readbyqxmd.com/read/27895661/the-genome-conformation-as-an-integrator-of-multi-omic-data-the-example-of-damage-spreading-in-cancer
#4
Fabio Tordini, Marco Aldinucci, Luciano Milanesi, Pietro Liò, Ivan Merelli
Publicly available multi-omic databases, in particular if associated with medical annotations, are rich resources with the potential to lead a rapid transition from high-throughput molecular biology experiments to better clinical outcomes for patients. In this work, we propose a model for multi-omic data integration (i.e., genetic variations, gene expression, genome conformation, and epigenetic patterns), which exploits a multi-layer network approach to analyse, visualize, and obtain insights from such biological information, in order to use achieved results at a macroscopic level...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27880748/cdc-grand-rounds-family-history-and-genomics-as-tools-for-cancer-prevention-and-control
#5
Juan L Rodriguez, Cheryll C Thomas, Greta M Massetti, Debra Duquette, Lindsay Avner, John Iskander, Muin J Khoury, Lisa C Richardson
Although many efforts in cancer prevention and control have routinely focused on behavioral risk factors, such as tobacco use, or on the early detection of cancer, such as colorectal cancer screening, advances in genetic testing have created new opportunities for cancer prevention through evaluation of family history and identification of cancer-causing inherited mutations. Through the collection and evaluation of a family cancer history by a trained health care provider, patients and families at increased risk for a hereditary cancer syndrome can be identified, referred for genetic counseling and testing, and make informed decisions about options for cancer risk reduction (1)...
November 25, 2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27871336/zfas1-a-long-noncoding-rna-associated-with-ribosomes-in-breast-cancer-cells
#6
Herah Hansji, Euphemia Y Leung, Bruce C Baguley, Graeme J Finlay, David Cameron-Smith, Vandre C Figueiredo, Marjan E Askarian-Amiri
BACKGROUND: Most of the eukaryotic genome is transcribed, yielding a complex network of transcripts including thousands of lncRNAs that generally lack protein coding potential. However, only a small percentage of these molecules has been functionally characterised, and discoveries of specific functions demonstrate layers of complexity. A large percentage of lncRNAs is located in the cytoplasm, associated with ribosomes but the function of the majority of these transcripts is unclear. The current study analyses putative mechanisms of action of the lncRNA species member ZFAS1 that was initially discovered by microarray analysis of murine tissues undergoing mammary gland development...
November 21, 2016: Biology Direct
https://www.readbyqxmd.com/read/27871291/-a-rising-tide-lifts-all-boats-establishing-a-multidisciplinary-genomic-tumor-board-for-breast-cancer-patients-with-advanced-disease
#7
Michelle L McGowan, Roselle S Ponsaran, Paula Silverman, Lyndsay N Harris, Patricia A Marshall
BACKGROUND: Research suggests that multidisciplinary genomic tumor boards (MGTB) can inform cancer patient care, though little is known about factors influencing how MGTBs interpret genomic test results, make recommendations, and perceive the utility of this approach. This study's objective was to observe, describe, and assess the establishment of the Breast Multidisciplinary Genomic Tumor Board, the first MGTB focused on interpreting genomic test results for breast cancer patients with advanced disease...
November 21, 2016: BMC Medical Genomics
https://www.readbyqxmd.com/read/27861147/arctigenin-inhibits-stat3-and-exhibits-anticancer-potential-in-human-triple-negative-breast-cancer-therapy
#8
Tingting Feng, Wei Cao, Wanxiang Shen, Liang Zhang, Xinsheng Gu, Yang Guo, Hsiang-I Tsai, Xuewen Liu, Jian Li, Jingxuan Zhang, Shan Li, Fuyun Wu, Ying Liu
Triple-negative breast cancers (TNBCs) are the most aggressive and hard-to-treat breast tumors with poor prognosis, and exploration for novel therapeutic drugs is impending. Arctigenin (Atn), a bioactive lignan isolated from seeds of Arctium lappa L, has been reported to inhibit many cancer types; however, the effect of Atn on TNBC remains unclear. In this study, we demonstrated that Atn decreased proliferation, and induced apoptosis in TNBC cells. Furthermore, we explored the underlying mechanism of Atn inhibition on TNBC cells...
November 16, 2016: Oncotarget
https://www.readbyqxmd.com/read/27859137/association-between-breast-cancer-genetic-susceptibility-variants-and-terminal-duct-lobular-unit-involution-of-the-breast
#9
Clara Bodelon, Hannah Oh, Nilanjan Chatterjee, Montserrat Garcia-Closas, Maya Palakal, Mark E Sherman, Ruth M Pfeiffer, Berta M Geller, Pamela M Vacek, Donald L Weaver, Rachael E Chicoine, Daphne Papathomas, Jackie Xiang, Deesha A Patel, Zeina G Khodr, Laura Linville, Susan E Clare, Daniel W Visscher, Carolyn Mies, Stephen M Hewitt, Louise A Brinton, Anna Maria Storniolo, Chunyan He, Stephen J Chanock, Gretchen L Gierach, Jonine D Figueroa
Terminal duct lobular units (TDLUs) are the predominant source of future breast cancers, and lack of TDLU involution (higher TDLU counts, higher acini count per TDLU and the product of the two) is a breast cancer risk factor. Numerous breast cancer susceptibility single nucleotide polymorphisms (SNPs) have been identified, but whether they are associated with TDLU involution is unknown. In a pooled analysis of 872 women from two studies, we investigated 62 established breast cancer SNPs and relationships with TDLU involution...
November 9, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27832498/analysis-of-a-recql-splicing-mutation-c-1667_1667-3delagta-in-breast-cancer-patients-and-controls-from-central-europe
#10
Natalia Bogdanova, Katja Pfeifer, Peter Schürmann, Natalia Antonenkova, Wulf Siggelkow, Hans Christiansen, Peter Hillemanns, Tjoung-Won Park-Simon, Thilo Dörk
RECQL is a DNA helicase required for genomic stability. Two studies have recently identified RECQL as a novel breast cancer susceptibility gene. The most common RECQL mutation, the 4 bp-deletion c.1667_1667+3delAGTA, was five-fold enriched in Polish breast cancer patients, but the exact magnitude of the risk is uncertain. We investigated two hospital-based breast cancer case-control series from Belarus and Germany, respectively, comprising a total of 2596 breast cancer patients and 2132 healthy females. The mutation was found in 9 cases and 6 controls, with an adjusted Odds Ratio 1...
November 10, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27826754/contribution-of-brca1-large-genomic-rearrangements-to-early-onset-and-familial-breast-ovarian-cancer-in-pakistan
#11
Muhammad U Rashid, Noor Muhammad, Asim Amin, Asif Loya, Ute Hamann
BACKGROUND: Germline mutations in BRCA1 and BRCA2 (BRCA1/2) account for the majority of hereditary breast and/or ovarian cancers. Pakistan has one of the highest rates of breast cancer incidence in Asia, where BRCA1/2 small-range mutations account for 17% of early-onset and familial breast/ovarian cancer patients. We report the first study from Pakistan evaluating the prevalence of BRCA1/2 large genomic rearrangements (LGRs) in breast and/or ovarian cancer patients who do not harbor small-range BRCA1/2 mutations...
November 8, 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27822389/beyond-dna-an-integrated-and-functional-approach-for-classifying-germline-variants-in-breast-cancer-genes
#12
REVIEW
T Pesaran, R Karam, R Huether, S Li, S Farber-Katz, A Chamberlin, H Chong, H LaDuca, A Elliott
Genetic testing for hereditary breast cancer is an integral part of individualized care in the new era of precision medicine. The accuracy of an assay is reliant on not only the technology and bioinformatics analysis utilized but also the experience and infrastructure required to correctly classify genetic variants as disease-causing. Interpreting the clinical significance of germline variants identified by hereditary cancer testing is complex and has a significant impact on the management of patients who are at increased cancer risk...
2016: International Journal of Breast Cancer
https://www.readbyqxmd.com/read/27818992/performance-characterization-and-validation-of-saliva-as-an-alternative-specimen-source-for-detecting-hereditary-breast-cancer-mutations-by-next-generation-sequencing
#13
Varsha Meghnani, Nadeem Mohammed, Christopher Giauque, Rahul Nahire, Thomas David
Identification of pathogenic germline mutations by next generation sequencing is a widely accepted tool for predicting the risk of hereditary cancer development. Blood is the most common source of DNA for such tests. However, blood as a sample type has many drawbacks, including the invasive collection method, poor sample stability, and a relatively high cost of collection. Therefore, in the current study we have assessed the suitability of saliva as an alternative source of genomic DNA for the identification of germline mutations in the BRCA1/2 genes by next generation sequencing (NGS)...
2016: International Journal of Genomics
https://www.readbyqxmd.com/read/27815543/genetic-dissection-of-cancer-development-therapy-response-and-resistance-in-mouse-models-of-breast-cancer
#14
Stefano Annunziato, Marco Barazas, Sven Rottenberg, Jos Jonkers
The cancer genomics revolution has rapidly expanded the inventory of somatic mutations characterizing human malignancies, highlighting a previously underappreciated extent of molecular variability between and within patients. Also in breast cancer, the most commonly diagnosed malignancy in women, this heterogeneity complicates the understanding of the stepwise sequence of pathogenic events and the design of effective and long-lasting target therapies. To disentangle this complexity and pinpoint which molecular perturbations are crucial to hijack the cellular machinery and lead to tumorigenesis and drug resistance, functional studies are needed in model systems that faithfully and comprehensively recapitulate all the salient aspects of their cognate human counterparts...
November 4, 2016: Cold Spring Harbor Symposia on Quantitative Biology
https://www.readbyqxmd.com/read/27814745/deep-targeted-sequencing-of-12-breast-cancer-susceptibility-regions-in-4611-women-across-four-different-ethnicities
#15
Sara Lindström, Akweley Ablorh, Brad Chapman, Alexander Gusev, Gary Chen, Constance Turman, A Heather Eliassen, Alkes L Price, Brian E Henderson, Loic Le Marchand, Oliver Hofmann, Christopher A Haiman, Peter Kraft
BACKGROUND: Although genome-wide association studies (GWASs) have identified thousands of disease susceptibility regions, the underlying causal mechanism in these regions is not fully known. It is likely that the GWAS signal originates from one or many as yet unidentified causal variants. METHODS: Using next-generation sequencing, we characterized 12 breast cancer susceptibility regions identified by GWASs in 2288 breast cancer cases and 2323 controls across four populations of African American, European, Japanese, and Hispanic ancestry...
November 5, 2016: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/27805827/nrf2-activation-as-a-key-event-triggered-by-skin-sensitisers-the-development-of-the-stable-keratinosens-reporter-gene-assay
#16
REVIEW
Andreas Natsch, Roger Emter
The 21st century paradigm for toxicology and the adverse outcome pathway concept envisage a future toxicology largely based on mechanistic in vitro assays and relying mainly on cellular models. In the skin sensitisation field, this concept was not intuitive at the beginning. Given the high structural diversity of skin sensitising molecules, classical receptor binding as the molecular initiating event in a cell-based assay could be excluded from the start, leaving the question of how cells could sense potential skin sensitising chemicals and be able to differentiate them from non-sensitisers...
October 2016: Alternatives to Laboratory Animals: ATLA
https://www.readbyqxmd.com/read/27801830/the-expression-and-clinical-outcome-of-pchk2-thr68-and-pcdc25c-ser216-in-breast-cancer
#17
Huayong Jiang, Bin Wang, Fuli Zhang, Yuanyu Qian, Chia-Chen Chuang, Mingzhen Ying, Yajie Wang, Li Zuo
Checkpoint kinase 2 (CHK2) and cell division cycle 25C (CDC25C) are two proteins involved in the DNA damage response pathway, playing essential roles in maintaining genome integrity. As one of the major hallmarks of abnormal cellular division, genomic instability occurs in most cancers. In this study, we identified the functional expression of pCHK2-Thr68 and pCDC25C-Ser216 in breast cancer, as well as its association with breast cancer survival. Tissue microarray analysis using immunohistochemistry was constructed to identify the expression of pCHK2-Thr68 and pCDC25C-Ser216 in 292 female breast cancer patients...
October 28, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27798748/revisiting-breast-cancer-patients-who-previously-tested-negative-for-brca-mutations-using-a-12-gene-panel
#18
Olivia Moran, Dina Nikitina, Robert Royer, Aletta Poll, Kelly Metcalfe, Steven A Narod, Mohammad R Akbari, Joanne Kotsopoulos
PURPOSE: BRCA mutations contribute to about 20% of all hereditary breast cancers. With full-genome sequencing as the emerging standard for genetic testing, other breast cancer susceptibility genes have been identified and may collectively contribute to up to 30% of all hereditary breast cancers. We re-assessed women who had previously tested negative for a BRCA mutation when outdated techniques were used, and discuss the implications of identifying a mutation several years after initial genetic testing...
October 31, 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27779110/the-transfer-of-multigene-panel-testing-for-hereditary-breast-and-ovarian-cancer-to-healthcare-what-are-the-implications-for-the-management-of-patients-and-families
#19
Marie Eliade, Jeremy Skrzypski, Amandine Baurand, Caroline Jacquot, Geoffrey Bertolone, Catherine Loustalot, Charles Coutant, France Guy, Pierre Fumoleau, Yannis Duffourd, Laurent Arnould, Alexandra Delignette, Marie-Martine Padéano, Côme Lepage, Géraldine Raichon-Patru, Axelle Boudrant, Marie-Christine Bône-Lépinoy, Anne-Laure Villing, Aurélie Charpin, Karine Peignaux, Sandy Chevrier, Frédérique Vegran, François Ghiringhelli, Romain Boidot, Nicolas Sevenet, Sarab Lizard, Laurence Faivre
Until recently, the molecular diagnosis of hereditary breast and ovarian cancer (HBOC) was mostly based on BRCA1/2 testing. Next generation sequencing and the recent discovery of new genes involved in HBOC now permit the transfer of genomic capture targeting multiple candidate genes from research to clinical use. However, the implications for the management of patients and their families have not been extensively studied, in particular since some of these genes are not well-established cancer predisposing genes...
October 15, 2016: Oncotarget
https://www.readbyqxmd.com/read/27770790/reduced-mrna-expression-levels-of-nfe2l2-are-associated-with-poor-outcome-in-breast-cancer-patients
#20
Barbara Wolf, Georg Goebel, Hubert Hackl, Heidi Fiegl
BACKGROUND: The transcription factor nuclear factor erythroid 2-related factor 2 (NFE2L2; previously known as NRF2) is a crucial regulator of the intracellular antioxidant response. It controls the expression of genes involved in the detoxification and elimination of reactive oxidants and electrophilic agents. The role of NFE2L2 in cancer is subject of controversial discussion, as it has been reported to have both pro-and anti-tumourigenic functions. To shed some light on this paradox, we analysed the NFE2L2 mRNA expression levels in breast cancer and its association with clinicopathological features and survival...
October 22, 2016: BMC Cancer
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