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Breast cancer genomic testing

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
Francesca Bianchi, Michele Sommariva, Loris De Cecco, Tiziana Triulzi, Sandra Romero-Cordoba, Elda Tagliabue, Lucia Sfondrini, Andrea Balsari
The autoimmune regulator gene (AIRE) plays a fundamental role in tolerance by promoting the expression of tissue-specific antigens in medullary thymic epithelial cells (mTECs). Recently, AIRE expression was detected also in human keratinocytes and in tumors originating in stratified epithelia. Here, we tested whether AIRE is expressed in cancer cells. We analyzed AIRE expression in cancer cases from The Cancer Genome Atlas (TCGA) RNA-seq dataset and we found association with better outcome. AIRE protein expression was verified by immunohistochemistry in a cohort of 39 human breast cancer specimens and its prognostic relevance was confirmed in microarray-based gene expression dataset NKI-295 and KM-Plotter...
October 18, 2016: Cell Cycle
June C Carroll, Tutsirai Makuwaza, Donna P Manca, Nicolette Sopcak, Joanne A Permaul, Mary Ann O'Brien, Ruth Heisey, Elizabeth A Eisenhauer, Julie Easley, Monika K Krzyzanowska, Baukje Miedema, Sandhya Pruthi, Carol Sawka, Nancy Schneider, Jonathan Sussman, Robin Urquhart, Catarina Versaevel, Eva Grunfeld
OBJECTIVE: To assess primary care providers' (PCPs') experiences with, perceptions of, and desired role in personalized medicine, with a focus on cancer. DESIGN: Qualitative study involving focus groups. SETTING: Urban and rural interprofessional primary care team practices in Alberta and Ontario. PARTICIPANTS: Fifty-one PCPs. METHODS: Semistructured focus groups were conducted and audiorecorded...
October 2016: Canadian Family Physician Médecin de Famille Canadien
Frederick L Baehner
In vitro diagnostic multivariate index assays are highly complex molecular assays that can provide clinically actionable information regarding the underlying tumour biology and facilitate personalised treatment. These assays are only useful in clinical practice if all of the following are established: analytical validation (i.e., how accurately/reliably the assay measures the molecular characteristics), clinical validation (i.e., how consistently/accurately the test detects/predicts the outcomes of interest), and clinical utility (i...
2016: Ecancermedicalscience
Michael Castro, Koah Vierkoetter, Douglas Prager, Shasta Montgomery, Kristin Sedgwick
BACKGROUND: Synchronous cancers have occasionally been detected at initial diagnosis among patients with breast and ovarian cancer. However, simultaneous coexistence and diagnosis of breast and pancreas cancer has not previously been reported. CASE REPORT: Paternal transmission of a germline BRCA2 mutation to a patient who was diagnosed at age 40 with locally advanced breast and pancreas cancer is presented. Somatic genomic analysis of both cancers with next-generation DNA sequencing confirmed the germline result and reported a variety of variants of unknown significance alterations, of which two were present in both the breast and pancreas cancers...
May 2016: Case Reports in Oncology
Taru A Muranen, Carl Blomqvist, Thilo Dörk, Anna Jakubowska, Päivi Heikkilä, Rainer Fagerholm, Dario Greco, Kristiina Aittomäki, Stig E Bojesen, Mitul Shah, Alison M Dunning, Valerie Rhenius, Per Hall, Kamila Czene, Judith S Brand, Hatef Darabi, Jenny Chang-Claude, Anja Rudolph, Børge G Nordestgaard, Fergus J Couch, Steven N Hart, Jonine Figueroa, Montserrat García-Closas, Peter A Fasching, Matthias W Beckmann, Jingmei Li, Jianjun Liu, Irene L Andrulis, Robert Winqvist, Katri Pylkäs, Arto Mannermaa, Vesa Kataja, Annika Lindblom, Sara Margolin, Jan Lubinski, Natalia Dubrowinskaja, Manjeet K Bolla, Joe Dennis, Kyriaki Michailidou, Qin Wang, Douglas F Easton, Paul D P Pharoah, Marjanka K Schmidt, Heli Nevanlinna
BACKGROUND: P.I157T is a CHEK2 missense mutation associated with a modest increase in breast cancer risk. Previously, another CHEK2 mutation, the protein truncating c.1100delC has been associated with poor prognosis of breast cancer patients. Here, we have investigated patient survival and characteristics of breast tumors of germ line p.I157T carriers. METHODS: We included in the analyses 26,801 European female breast cancer patients from 15 studies participating in the Breast Cancer Association Consortium...
October 3, 2016: Breast Cancer Research: BCR
Edward A Ruiz-Narváez, Lara Sucheston-Campbell, Jeannette T Bensen, Song Yao, Stephen Haddad, Christopher A Haiman, Elisa V Bandera, Esther M John, Leslie Bernstein, Jennifer J Hu, Regina G Ziegler, Sandra L Deming, Andrew F Olshan, Christine B Ambrosone, Julie R Palmer, Kathryn L Lunetta
Recent genetic admixture coupled with striking differences in incidence of estrogen receptor (ER) breast cancer subtypes, as well as severity, between women of African and European ancestry, provides an excellent rationale for performing admixture mapping in African American women with breast cancer risk. We performed the largest breast cancer admixture mapping study with in African American women to identify novel genomic regions associated with the disease. We conducted a genome-wide admixture scan using 2,624 autosomal ancestry informative markers (AIMs) in 3,629 breast cancer cases (including 1,968 ER-positive, 1093 ER-negative, and 601 triple-negative) and 4,658 controls from the African American Breast Cancer Epidemiology and Risk (AMBER) Consortium, a collaborative study of four large geographically different epidemiological studies of breast cancer in African American women...
2016: Frontiers in Genetics
Zhaomei Mu, Naoual Benali-Furet, Georges Uzan, Anaëlle Znaty, Zhong Ye, Carmela Paolillo, Chun Wang, Laura Austin, Giovanna Rossi, Paolo Fortina, Hushan Yang, Massimo Cristofanilli
The availability of blood-based diagnostic testing using a non-invasive technique holds promise for real-time monitoring of disease progression and treatment selection. Circulating tumor cells (CTCs) have been used as a prognostic biomarker for the metastatic breast cancer (MBC). The molecular characterization of CTCs is fundamental to the phenotypic identification of malignant cells and description of the relevant genetic alterations that may change according to disease progression and therapy resistance. However, the molecular characterization of CTCs remains a challenge because of the rarity and heterogeneity of CTCs and technological difficulties in the enrichment, isolation and molecular characterization of CTCs...
September 30, 2016: International Journal of Molecular Sciences
Andrew D Seidman, Darius K Amjadi, Tammy De La Melena, Darren Wheeler
No abstract text is available yet for this article.
September 29, 2016: Population Health Management
Debora Fumagalli, David Venet, Michail Ignatiadis, Hatem A Azim, Marion Maetens, Françoise Rothé, Roberto Salgado, Ian Bradbury, Lajos Pusztai, Nadia Harbeck, Henry Gomez, Tsai-Wang Chang, Maria Antonia Coccia-Portugal, Serena Di Cosimo, Evandro de Azambuja, Lorena de la Peña, Paolo Nuciforo, Jan C Brase, Jens Huober, José Baselga, Martine Piccart, Sherene Loi, Christos Sotiriou
Importance: In neoadjuvant trials, treatment of human epidermal growth factor receptor 2 (HER2)-positive breast cancers with dual HER2 blockade resulted in increased pathologic complete response (pCR) rates compared with each targeted agent alone. Amplification and/or overexpression of HER2 currently remains the only biomarker for therapeutic decisions, but it is insufficient to explain the heterogeneous response to anti-HER2 agents. Objective: To investigate the ability of clinically and biologically relevant genes and gene signatures (GSs) measured by RNA sequencing to predict the efficacy of anti-HER2 agents...
September 29, 2016: JAMA Oncology
C Markopoulos, C van de Velde, D Zarca, V Ozmen, R Masetti
Breast cancer (BC) has historically been treated as a single disease entity; however, in the last decade, insights into its molecular heterogeneity have underpinned the development/commercialisation of several genomic tools whose goal is to guide patient management in early BC. These include the Oncotype DX(®) Breast Recurrence Score™ assay, MammaPrint(®), Prosigna(®), and EndoPredict(®). Although these assays are similar in that they are all multigene assays reflecting risk of recurrence, they differ substantially in the technological platform used to measure gene expression; the number and identity of genes assessed; the patient populations used for development and validation; and the level of evidence supporting clinical utility...
August 31, 2016: European Journal of Surgical Oncology
S Michiels, N Ternès, F Rotolo
With the genomic revolution and the era of targeted therapy, prognostic and predictive gene signatures are becoming increasingly important in clinical research. They are expected to assist prognosis assessment and therapeutic decision making. Notwithstanding, an evidence-based approach is needed to bring gene signatures from the laboratory to clinical practice. In early breast cancer, multiple prognostic gene signatures are commercially available without having formally reached the highest levels of evidence-based criteria...
September 15, 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
Preethi Krishnan, Sunita Ghosh, Bo Wang, Mieke Heyns, Kathryn Graham, John R Mackey, Olga Kovalchuk, Sambasivarao Damaraju
One of the most abundant, yet least explored, classes of RNA is the small nucleolar RNAs (snoRNAs), which are well known for their involvement in post-transcriptional modifications of other RNAs. Although snoRNAs were only considered to perform housekeeping functions for a long time, recent studies have highlighted their importance as regulators of gene expression and as diagnostic/prognostic markers. However, the prognostic potential of these RNAs has not been interrogated for breast cancer (BC). The objective of the current study was to identify snoRNAs as prognostic markers for BC...
2016: PloS One
Katherine B Geiersbach, Carlynn Willmore-Payne, Alexandra V Pasi, Christian N Paxton, Theresa L Werner, Xinjie Xu, Carl T Wittwer, H Evin Gulbahce, Erinn Downs-Kelly
OBJECTIVES: Guidelines for HER2 testing define an equivocal range for HER2 using two approved testing methods, immunohistochemistry (IHC) and in situ hybridization (ISH). We investigated genome-wide copy number alterations in this subgroup. METHODS: Ten breast cancers with equivocal HER2 status by both IHC and ISH were analyzed by single-nucleotide polymorphism cytogenomic microarray (SNP array). DNA ploidy analysis by flow cytometry was performed on nine cases with sufficient material remaining...
October 2016: American Journal of Clinical Pathology
Zhitong Bing, Jinhui Tian, Jingyun Zhang, Xiuxia Li, Xiaohu Wang, Kehu Yang
Radiotherapy is widely used in breast cancer treatment. The radiotherapy for breast invasive carcinoma (BRCA) presents challenges with the complex clinical factors, and too many genes have been found to be associated with BRCA radiotherapy prognosis. The aim of this study was to construct an integrative model to combine the clinical data and RNA expression data (including microRNA and mRNA) to predict the survival durations of BRCA patients with radiotherapy. Also, the authors try to find the key regulation pairs between mRNA and miRNA from prediction...
September 2016: Cancer Biotherapy & Radiopharmaceuticals
Richard Schilsky, Will Davies
The Worldwide Innovative Networking (WIN) consortium is an alliance of academic institutions, pharmaceutical partners, representatives from technology companies and charitable/health payer organisations from across the globe. For the last six years, the consortium's aims have been to foster communication and collaboration between members, encourage dialogue in an open forum, and deliver clinical trial results that improve the care and outcomes of patients with cancer using the latest advances in genomic-based medicine...
2016: Ecancermedicalscience
Zhiping Deng, Hua Yang, Qiufang Liu, Zhouquan Wang, Tian Feng, Yongri Ouyang, Tianbo Jin, Hong Ren
Genome-wide association studies (GWAS) have identified common variants associated with breast cancer (BC) risk at multiple genetic loci. Above all, accumulated evidence suggests that inherited risk variants may vary in BC subtypes defined by estrogen receptor (ER) or progesterone receptor (PR) status. However, the underlying susceptibility of some variants for BC subtypes has not been well investigated in the Chinese population. Our objective was to explore the association among 23 GWAS-identified single-nucleotide polymorphisms (SNPs) and overall BC incidence, as well as its subtypes, in Chinese women...
September 8, 2016: Journal of Human Genetics
Guigao Lin, Kuo Zhang, Lang Yi, Yanxi Han, Jiehong Xie, Jinming Li
Tamoxifen has been successfully used for treating breast cancer and preventing cancer recurrence. Cytochrome P450 2D6 (CYP2D6) plays a key role in the process of metabolizing tamoxifen to its active moiety, endoxifen. Patients with variants of the CYP2D6 gene may not receive the full benefit of tamoxifen treatment. The CYP2D6*10 variant (the most common variant in Asians) was analyzed to optimize the prescription of tamoxifen in China. To ensure referring clinicians have accurate information for genotype-guided tamoxifen treatment, the Chinese National Center for Clinical Laboratories (NCCL) organized a national proficiency testing (PT) to evaluate the performance of laboratories providing CYP2D6*10 genotyping...
2016: PloS One
A S Hamy, I Bieche, J Lehmann-Che, V Scott, Ph Bertheau, J M Guinebretière, M C Matthieu, B Sigal-Zafrani, O Tembo, M Marty, B Asselain, F Spyratos, P de Cremoux
PURPOSE: Neoadjuvant systemic therapy (NAC) is currently used in the treatment of stage II/III breast cancer. Pathological complete response as a surrogate endpoint for clinical outcomes is not completely validated for all subgroups of breast cancers. Therefore, there is a need for reliable predictive tests of the most effective treatment. METHODS: We used a combination of predictive clinical, pathological, and gene expression-based markers of response to NAC in a prospective phase II multicentre randomized clinical trial in breast cancer patients, with a long follow-up (8 years)...
October 2016: Breast Cancer Research and Treatment
Minggui Xu, Yihui Xu, Mengyun Chen, Yang Li, Wei Li, Jun Zhu, Mingjun Zhang, Zhendong Chen, Xuejun Zhang, Jianjun Liu, Bo Zhang
To date, many loci associated with breast cancer have been identified through genome-wide association studies; most of these studies were conducted using populations of European descent. Thus, it is not clear whether these susceptibility loci are also risk factors for Chinese populations. We selected and genotyped 32 single nucleotide polymorphisms (SNPs) using the Sequenom iPLEX platform in a female Chinese cohort of 3036 breast cancer cases and 3036 healthy controls. A total of 23 SNPs passed the quality control test...
October 2016: Breast Cancer Research and Treatment
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