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Breast cancer genetics

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https://www.readbyqxmd.com/read/28538002/the-cancer-worry-scale-revised-for-breast-cancer-genetic-counseling
#1
Anita Caruso, Cristina Vigna, Paola Gremigni
BACKGROUND: The Cancer Worry Scale was revised to be used in breast cancer genetic counseling (CWS-GC). This scale is used to identify dimensions that are relevant in the genetic counseling context, such as worry about developing breast cancer, impact of worries on daily life, and risk perception in women attending a counseling session for BRCA1/2 mutations. OBJECTIVE: The aim of this study was to estimate the psychometric properties of the CWS-GC in a sample of Italian women...
May 19, 2017: Cancer Nursing
https://www.readbyqxmd.com/read/28537877/clinical-validation-of-genetic-variants-associated-with-in-vitro-chemotherapy-related-lymphoblastoid-cell-toxicity
#2
Peter A Fasching, Lothar Häberle, Brigitte Rack, Liang Li, Alexander Hein, Arif B Ekici, Andre Reis, Michael P Lux, Julie M Cunningham, Matthias Ruebner, Gergory Jenkins, Brooke Fridley, Andreas Schneeweiss, Hans Tesch, Werner Lichtenegger, Tanja Fehm, Georg Heinrich, Mahdi Rezai, Matthias W Beckmann, Wolfgang Janni, Richard M Weinshilboum, Liewei Wang
Hematotoxicity is one of the major side effects of chemotherapy. The aim of this study was to examine the association between single nucleotide polymorphisms (SNPs) and hematotoxicity in breast cancer patients in a subset of patients of the SUCCESS prospective phase III chemotherapy study. All patients (n = 1678) received three cycles of 5-fluorouracil, epirubicin, and cyclophosphamide (FEC) followed by three cycles of docetaxel or docetaxel/gemcitabine, depending on randomization. Germline DNA was genotyped for 246 SNPs selected from a previous genome-wide association study (GWAS) in a panel of lymphoblastoid cell lines, with gemcitabine toxicity as the phenotype...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28534356/abcb1-c3435t-polymorphism-and-breast-cancer-risk-a-case-control-study-and-a-meta-analysis
#3
Alireza Sharif, Davood Kheirkhah, Mohammad Reza Sharif, Mohammad Karimian, Zahra Karimian
PURPOSE: To investigate the association of ABCB1-C3435T transition with breast cancer risk which was followed by a meta-analysis. METHODS: In a case-control study we collected blood samples from 290 women (including 150 breast cancer patients and 140 healthy controls). ABCB1-C3435T genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. A meta- analysis was performed for a total of 13 eligible studies involving 5,835 cases and 8,178 controls...
March 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28533477/a-summary-of-relationships-between-alternative-splicing-and-breast-cancer
#4
REVIEW
Zhang Xiping, Wei Qingshan, Zhao Shuai, Yang Hongjian, Ding Xiaowen
Alternative splicing (AS) is the process of combinatorial rearrangement of parts of exons, and/or parts of introns into mature RNA to result in a multitude of transcripts. AS is a biological process through which organisms produce as many protein variants as possible by a limited genetic resource. It plays an important role in growth and development of the organisms. Over the past few years, alternative splicing has been discovered to be critical for genesis and development of malignant tumors, including breast cancer...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28532420/going-beyond-genetics-to-discover-cancer-targets
#5
Gabriel J Sandoval, William C Hahn
Two recent studies demonstrate the power of integrating tumor genotype information with epigenetic and proteomic studies to discover potential therapeutic targets in breast cancer.
May 22, 2017: Genome Biology
https://www.readbyqxmd.com/read/28530705/ccn5-wisp-2-restores-er-%C3%A2-in-normal-and-neoplastic-breast-cells-and-sensitizes-triple-negative-breast-cancer-cells-to-tamoxifen
#6
S Sarkar, A Ghosh, S Banerjee, G Maity, A Das, M A Larson, V Gupta, I Haque, O Tawfik, S K Banerjee
CCN5/WISP-2 is an anti-invasive molecule and prevents breast cancer (BC) progression. However, it is not well understood how CCN5 prevents invasive phenotypes of BC cells. CCN5 protein expression is detected in estrogen receptor-α (ER-α) -positive normal breast epithelial cells as well as BC cells, which are weakly invasive and rarely metastasize depending on the functional status of ER-α. A unique molecular relation between CCN5 and ER-α has been established as the components of the same signaling pathway that coordinate some essential signals associated with the proliferation as well as delaying the disease progression from a non-invasive to invasive phenotypes...
May 22, 2017: Oncogenesis
https://www.readbyqxmd.com/read/28529692/abnormal-expression-of-atp1a1-and-atp1a2-in-breast-cancer
#7
Alexey Bogdanov, Fedor Moiseenko, Michael Dubina
Breast cancer is the first in incidence and the second in death among all solid tumors occurring in women. The identification of molecular genetic abnormalities in breast cancer is important to improve the results of treatment. In the present study, we analyzed microarray data of breast cancer expression profiling (NCBI GEO database, accession GSE65194), focusing on Na (+)/K (+)-ATPase coding genes. We found overexpression of the ATP1A1 and down-regulation of the ATP1A2. We expect that our research could help to improve the understanding of predictive and prognostic features of breast cancer...
2017: F1000Research
https://www.readbyqxmd.com/read/28529228/-the-absence-doubled-photo-poetic-narratives-of-prophylactic-mastectomy
#8
Stella Bolaki
This essay considers Clare Best's poetic sequence Self-portrait without Breasts (2011) and her collaboration with photographer Laura Stevens, which explore preventive surgery and questions of genetics/hereditary breast cancer. In an era when risk and cosmetic reconstruction guide treatment and the development of new breast cancer subjects, Best reclaims the "flat simple scarred chest with no extras." I situate her poems in the context of statistics and the neoliberal postfeminist subject as well as in a poetic tradition about the post-mastectomy body as landscape...
2017: Literature and Medicine
https://www.readbyqxmd.com/read/28526922/advances-in-systemic-therapy-for-metastatic-breast-cancer-future-perspectives
#9
REVIEW
S P Corona, N Sobhani, A Ianza, G Roviello, G Mustacchi, M Bortul, F Zanconati, D Generali
Breast cancer (BC) is the most common cancer in women worldwide. One in eight women will develop the disease in her lifetime. Notwithstanding the incredible progress made in this field, BC still represents the second most common cause of cancer-related death in women. Targeted drugs have revolutionised breast cancer treatment and improved the prognosis as well as the life expectancy of millions of women. However, the phenomenon of primary and secondary pharmacological resistance is becoming increasingly evident, limiting the efficacy of these agents and calling for a better in-depth knowledge and understanding of the biology as well as the biochemical crosstalk underlying the disease...
July 2017: Medical Oncology
https://www.readbyqxmd.com/read/28524356/association-between-yap-expression-in-neoplastic-and-non-neoplastic-breast-tissue-with-arsenic-urinary-levels
#10
Gladis Michel-Ramirez, Rogelio Recio-Vega, Guadalupe Ocampo-Gomez, Eduardo Palacios-Sanchez, Manuel Delgado-Macias, Manuel Delgado-Gaona, Robert Clark Lantz, Jay Gandolfi, Tania Gonzalez-Cortes
The Hippo pathway regulates cell proliferation and apoptosis and it has been noted that loss of critical components of this pathway can lead to uncontrolled cell growth. Yes-associated protein (YAP) is an important component of this Hippo pathway because YAP is the nuclear effector of the Hippo tumor suppressor pathway and it is crucial for the response to oxidative stress induced by cellular process and by different xenobiotics, including arsenic. It has been proposed that YAP dysregulation can contribute to a malignant cellular phenotype acting as both a tumor suppressor and an oncogene...
May 19, 2017: Journal of Applied Toxicology: JAT
https://www.readbyqxmd.com/read/28521483/use-of-laser-capture-microdissection-allows-detection-of-loss-of-heterozygosity-in-chromosome-9p-in-breast-cancer
#11
Margarida Figueiredo Dias, Robert Blumenstein, Jose Russo
The present study was designed to determine whether loss of heterozygosity (LOH) in the p arm of chromosome 9 in invasive ductal carcinoma of the breast is detected during the neoplastic progression of the disease. Using laser capture microdissection (LCM) epithelial cells were isolated from 14 invasive ductal carcinoma cases (IDC), ductal carcinomas in situ (DCIS), normal mammary lobules, skin and/or lymph nodes of paraffin embedded tissue sections. LOH analysis of chromosome 9p was performed utilizing the microsatellite markers D9S199, D9S157, D9S171, D9S265 and D9S270...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28521362/association-of-common-genetic-variants-with-contralateral-breast-cancer-risk-in-the-wecare-study
#12
Mark E Robson, Anne S Reiner, Jennifer D Brooks, Patrick J Concannon, Esther M John, Lene Mellemkjaer, Leslie Bernstein, Kathleen E Malone, Julia A Knight, Charles F Lynch, Meghan Woods, Xiaolin Liang, Robert W Haile, David J Duggan, Roy E Shore, Susan A Smith, Duncan C Thomas, Daniel O Stram, Jonine L Bernstein
Background: Women with unilateral breast cancer (UBC) are at risk of developing a subsequent contralateral breast cancer (CBC). Common variants are associated with breast cancer risk. Whether these influence CBC risk is unknown. Methods: Participants were breast cancer cases from the population-based Women's Environmental Cancer and Radiation Epidemiology (WECARE) Study. Sixty-seven established breast cancer risk loci were genotyped directly or by imputation in 1459 case subjects with CBC and 2126 UBC control subjects...
October 1, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/28518096/invasive-behavior-of-human-breast-cancer-cells-in-embryonic-zebrafish
#13
Jiang Ren, Sijia Liu, Chao Cui, Peter Ten Dijke
In many cases, cancer patients do not die of a primary tumor, but rather because of metastasis. Although numerous rodent models are available for studying cancer metastasis in vivo, other efficient, reliable, low-cost models are needed to quickly access the potential effects of (epi)genetic changes or pharmacological compounds. As such, we illustrate and explain the feasibility of xenograft models using human breast cancer cells injected into zebrafish embryos to support this goal. Under the microscope, fluorescent proteins or chemically labeled human breast cancer cells are transplanted into transgenic zebrafish embryos, Tg (fli:EGFP), at the perivitelline space or duct of Cuvier (Doc) 48 h after fertilization...
April 25, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28515260/multigene-testing-for-hereditary-cancer-when-why-and-how
#14
Kenneth Offit
Multigene testing is a complicated area, with advantages and disadvantages of testing for hereditary cancer syndromes. Currently, NCCN does not endorse routing multiplex testing outside of a research setting, and/or intensive genetic counseling regarding risks and benefits. The 2017 NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment: Breast and Ovarian and Colorectal provide suggestions for mutation carriers identified by panel tests.
May 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28514482/breast-cancer-genetic-testing-among-african-patients-with-breast-cancer-deoxyribonucleic-acid-extraction-from-tumor-tissue-and-international-multidisciplinary-partnerships
#15
Emmanuel Amankwaa-Frempong, Francis Agyemang Yeboah, Samuel Blay Nguah, Lisa A Newman
No abstract text is available yet for this article.
May 17, 2017: JAMA Surgery
https://www.readbyqxmd.com/read/28513873/myxoid-fibroadenomas-differ-from-conventional-fibroadenomas-a-hypothesis-generating-study
#16
John R Lozada, Kathleen A Burke, Aoife Maguire, Fresia Pareja, Raymond S Lim, Jisun Kim, Rodrigo Gularte-Merida, Melissa P Murray, Edi Brogi, Britta Weigelt, Jorge S Reis-Filho, Felipe C Geyer
AIMS: Breast myxoid fibroadenomas (MFAs) are characterized by a distinctive hypocellular myxoid stroma, and occur sporadically or in the context of Carney Complex, an inheritable condition caused by PRKAR1A inactivating germline mutations. Conventional fibroadenomas (FAs) are underpinned by recurrent MED12 mutations in the stromal components of the lesions. We sought to investigate the genomic landscape of MFAs and compare it to that of conventional FAs. METHODS AND RESULTS: Eleven MFAs from patients without clinical and/or genetic evidence of Carney Complex were retrieved...
May 17, 2017: Histopathology
https://www.readbyqxmd.com/read/28512241/assessment-of-breast-cancer-risk-factors-reveals-subtype-heterogeneity
#17
Johanna Holm, Louise Eriksson, Alexander Ploner, Mikael Eriksson, Mattias Rantalainen, Jingmei Li, Per Hall, Kamila Czene
Subtype heterogeneity for breast cancer risk factors has been suspected, potentially reflecting etiological differences and implicating risk prediction. However, reports are conflicting regarding presence of heterogeneity for many exposures. To examine subtype heterogeneity across known breast cancer risk factors, we conducted a case-control analysis of 2,632 breast cancers and 15,945 controls in Sweden. Molecular subtype was predicted from pathology-record derived immunohistochemistry markers by a classifier trained on PAM50 subtyping...
May 16, 2017: Cancer Research
https://www.readbyqxmd.com/read/28510291/associations-between-rna-splicing-regulatory-variants-of-stemness-related-genes-and-racial-disparities-in-susceptibility-to-prostate-cancer
#18
Yanru Wang, Jennifer A Freedman, Hongliang Liu, Patricia G Moorman, Terry Hyslop, Daniel J George, Norman H Lee, Steven R Patierno, Qingyi Wei
Evidence suggests that cells with a stemness phenotype play a pivotal role in oncogenesis, and prostate cells exhibiting this phenotype have been identified. We used two genome-wide association study (GWAS) datasets of African descendants, from the Multiethnic/Minority Cohort Study of Diet and Cancer (MEC) and the Ghana Prostate Study, as well as two GWAS datasets of non-Hispanic whites, from the Prostate, Lung, Colorectal and Ovarian (PLCO) Cancer Screening Trial and the Breast and Prostate Cancer Cohort Consortium (BPC3), to analyze the associations between genetic variants of stemness-related genes and racial disparities in susceptibility to prostate cancer...
May 16, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28509937/next-generation-sequencing-is-informing-phenotype-a-tp53-example
#19
R O'Shea, R Clarke, E Berkley, C Giffney, M Farrell, E O'Donovan, D J Gallagher
The increased availability of next generation sequencing (NGS) and multi gene panel testing has resulted in more frequent TP53 testing of families that do not meet classic testing criteria. We investigated testing criteria, family history and result outcome in a cohort of Irish probands undergoing TP53 full sequencing. All TP53 test requests processed through the national genetic testing laboratory between 2012 and 2014 were retrospectively reviewed. Personal and family cancer histories were collected, including tumour type and age at diagnosis, from two adult cancer genetic services in Ireland...
May 16, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28508305/recent-advances-in-targeting-dna-repair-pathways-for-the-treatment-of-ovarian-cancer-and-their-clinical-relevance
#20
REVIEW
Katsutoshi Oda, Michihiro Tanikawa, Kenbun Sone, Mayuyo Mori-Uchino, Yutaka Osuga, Tomoyuki Fujii
Poly (ADP-ribose) polymerase (PARP) inhibitors have attracted much attention as one of the major molecular-targeted therapeutics for inhibiting DNA damage response. The PARP inhibitor, olaparib, has been clinically applied for treating certain recurrent ovarian cancer patients with BRCA1/2 mutations in Europe and the United States. It was also designated on 24 March 2017 as an orphan drug in Japan for similar clinical indications. In this review, we discuss (i) the prevalence of BRCA1/2 mutations in ovarian cancer, (ii) clinical trials of PARP inhibitors in ovarian cancer, (iii) genetic counseling for hereditary breast and ovarian cancer patients, and (iv) non-BRCA genes that may be associated with homologous recombination deficiency...
May 15, 2017: International Journal of Clinical Oncology
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