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Breast cancer genetic tests

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https://www.readbyqxmd.com/read/30093976/clinical-genetic-testing-outcome-with-multi-gene-panel-in-asian-patients-with-multiple-primary-cancers
#1
Gloria H J Chan, Pei Yi Ong, Jeffrey J H Low, Hwai Loong Kong, Samuel G W Ow, David S P Tan, Yi Wan Lim, Siew Eng Lim, Soo-Chin Lee
Background: Developing multiple cancers is an indicator of underlying hereditary cancer predisposition, but there is a paucity of data regarding the clinical genetic testing outcomes of these patients. Methods: We compared cancer index patients with ≥2 primary malignancies versus 1 primary cancer who underwent clinical evaluation and testing with multi-gene panels comprising up to 49 genes from 1998-2016. Results: Among 1191 cancer index patients, 80...
July 17, 2018: Oncotarget
https://www.readbyqxmd.com/read/30089904/genetic-and-transcriptional-evolution-alters-cancer-cell-line-drug-response
#2
Uri Ben-David, Benjamin Siranosian, Gavin Ha, Helen Tang, Yaara Oren, Kunihiko Hinohara, Craig A Strathdee, Joshua Dempster, Nicholas J Lyons, Robert Burns, Anwesha Nag, Guillaume Kugener, Beth Cimini, Peter Tsvetkov, Yosef E Maruvka, Ryan O'Rourke, Anthony Garrity, Andrew A Tubelli, Pratiti Bandopadhayay, Aviad Tsherniak, Francisca Vazquez, Bang Wong, Chet Birger, Mahmoud Ghandi, Aaron R Thorner, Joshua A Bittker, Matthew Meyerson, Gad Getz, Rameen Beroukhim, Todd R Golub
Human cancer cell lines are the workhorse of cancer research. Although cell lines are known to evolve in culture, the extent of the resultant genetic and transcriptional heterogeneity and its functional consequences remain understudied. Here we use genomic analyses of 106 human cell lines grown in two laboratories to show extensive clonal diversity. Further comprehensive genomic characterization of 27 strains of the common breast cancer cell line MCF7 uncovered rapid genetic diversification. Similar results were obtained with multiple strains of 13 additional cell lines...
August 8, 2018: Nature
https://www.readbyqxmd.com/read/30083054/kdm4c-is-recruited-to-mitotic-chromosomes-and-is-relevant-for-chromosomal-stability-cell-migration-and-invasion-of-triple-negative-breast-cancer-cells
#3
Jeison Garcia, Fernando Lizcano
Members of the jumonji-containing lysine demethylase protein family have been associated with cancer development, although their specific roles in the evolution of tumor cells remain unknown. This work examines the effects of lysine demethylase 4C (KDM4C) knockdown on the behavior of a triple-negative breast cancer cell line. KDM4C expression was knocked-down by siRNA and analyzed by Western blot and immunofluorescence. HCC38 cell proliferation was examined by MTT assay, while breast cancer cells' migration and invasion were tested in Transwell format by chemotaxis...
2018: Breast Cancer: Basic and Clinical Research
https://www.readbyqxmd.com/read/30078647/association-of-pi3k-pathway-mutations-with-early-positron-emission-tomography-ct-imaging-response-after-radioembolization-for-breast-cancer-liver-metastases-results-of-a-single-center-retrospective-pilot-study
#4
Amy R Deipolyi, Christopher C Riedl, Jacqueline Bromberg, Sarat Chandarlapaty, Christopher A Klebanoff, Constantinos T Sofocleous, Hooman Yarmohammadi, Lynn A Brody, F Edward Boas, Etay Ziv
PURPOSE: To describe imaging response and survival after radioembolization for metastatic breast cancer and to delineate genetic predictors of imaging responses and outcomes. MATERIALS AND METHODS: This retrospective study included 31 women (average age, 52 y) with liver metastasis from invasive ductal carcinoma who underwent resin and glass radioembolization (average cumulative dose, 2.0 GBq ± 1.8) between January 2011 and September 2017 after receiving ≥ 3 lines of chemotherapy...
August 2, 2018: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/30078181/analysis-of-pro-and-anti-inflammatory-cytokine-gene-variants-and-serum-cytokine-levels-as-prognostic-markers-in-breast-cancer
#5
Raman Preet Kaur, Kanika Vasudeva, Heena Singla, Raja Paramjeet Singh Benipal, Preeti Khetarpal, Anjana Munshi
The aim of current study was to evaluate the genetic variation in all the genes encoding pro- and anti-inflammatory cytokines in association with breast cancer development in patients from Malwa region of Punjab. The importance of the levels of interleukin (IL)-17, tumor necrosis factor, interferon γ, IL-10, IL-6, IL-4, and IL-2 with respect to clinicopathological data, prognosis, and disease-free survival was also determined in these patients. Two hundred and fifty female breast cancer patients and 250 age-matched controls were screened for variations in cytokine-encoding genes using global screening array microchip...
August 4, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/30074858/male-breast-cancer-in-the-age-of-genetic-testing-an-opportunity-for-early-detection-tailored-therapy-and-surveillance
#6
Yiming Gao, Samantha L Heller, Linda Moy
In detection, treatment, and follow-up, male breast cancer has historically lagged behind female breast cancer. On the whole, breast cancer is less common among men than among women, limiting utility of screening, yet the incidence of male breast cancer is rising, and there are men at high risk for breast cancer. While women at high risk for breast cancer are well characterized, with clearly established guidelines for screening, supplemental screening, risk prevention, counseling, and advocacy, men at high risk for breast cancer are poorly identified and represent a blind spot in public health...
August 3, 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/30061853/coping-mechanisms-psychological-distress-and-quality-of-life-prior-to-cancer-genetic-counseling
#7
Valentina E Di Mattei, Letizia Carnelli, Martina Bernardi, Rebecca Bienati, Chiara Brombin, Federica Cugnata, Emanuela Rabaiotti, Milvia Zambetti, Lucio Sarno, Massimo Candiani, Oreste Gentilini
Background: Breast Cancer susceptibility genes 1 and 2 are implicated in hereditary breast and ovarian cancer and women can test for the presence of these genes prior to developing cancer. The goal of this study is to examine psychological distress, quality of life, and active coping mechanisms in a sample of women during the pre-test stage of the genetic counseling process, considering that pre-test distress can be an indicator of post-test distress. We also wanted to identify if subgroups of women, defined based on their health status, were more vulnerable to developing distress during the genetic counseling process...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/30055349/benchmarking-of-amplicon-based-next-generation-sequencing-panels-combined-with-bioinformatics-solutions-for-germline-brca1-and-brca2-alteration-detection
#8
Julie A Vendrell, Paul Vilquin, Marion Larrieux, Charles Van Goethem, Jérôme Solassol
The recent deployment of next-generation sequencing approaches in routine laboratory analysis has considerably modified the landscape of BRCA1 and BRCA2 germline alteration detection in patients with a high risk of developing breast and/or ovarian cancer. Several commercial multiplex amplicon-based panels and bioinformatics solutions are currently available. In this study, we evaluated the combinations of several BRCA testing assays and bioinformatics solutions for the identification of single nucleotide variants, insertion/deletion variants (indels), and copy number variations (CNVs)...
July 25, 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/30052783/alcohol-drinking-adh1b-and-adh1c-genotypes-and-the-risk-of-postmenopausal-breast-cancer-by-hormone-receptor-status-the-netherlands-cohort-study-on-diet-and-cancer
#9
Markus Hahn, Colinda C J M Simons, Matty P Weijenberg, Piet A van den Brandt
Alcohol has consistently been shown to increase breast cancer (BC) risk. This association may be modified by single nucleotide polymorphisms in alcohol dehydrogenase isoenzymes ADH1B and ADH1C. The Netherlands Cohort Study comprises 62 573 women, aged 55-69 years at baseline (1986). Follow-up for postmenopausal BC for 20.3 years was available. Genotyping of 6 tag SNPs in ADH1B and ADH1C, respectively, was performed on DNA from toenails. A case-cohort approach was used for analysis (complete data available for: nsubcohort= 1301; ncases= 1630)...
July 20, 2018: Carcinogenesis
https://www.readbyqxmd.com/read/30040829/brca1-founder-mutations-and-beyond-in-the-polish-population-a-single-institution-brca1-2-next-generation-sequencing-study
#10
Artur Kowalik, Monika Siołek, Janusz Kopczyński, Kamila Krawiec, Joanna Kalisz, Sebastian Zięba, Beata Kozak-Klonowska, Elżbieta Wypiórkiewicz, Jowita Furmańczyk, Ewelina Nowak-Ozimek, Małgorzata Chłopek, Paweł Macek, Jolanta Smok-Kalwat, Stanisław Góźdź
Hereditary mutations in BRCA1/2 genes increase the risk of breast cancer by 60-80% and ovarian cancer by about 20-40% in female carriers. Detection of inherited mutations in asymptomatic carriers allows for the implementation of appropriate preventive measures. BRCA1/2 genotyping is also important for poly(adenosine diphosphate)-ribose polymerase (PARP) inhibitor administration. This work addresses the need for next-generation sequencing (NGS) technology for the detection of BRCA1/2 mutations in Poland where until recently mostly founder mutations have been tested, and whether BRCA diagnostics should be extended beyond the panel of founder mutations in this population...
2018: PloS One
https://www.readbyqxmd.com/read/30038706/inhibition-of-mtor-downregulates-expression-of-dna-repair-proteins-and-is-highly-efficient-against-brca2-mutated-breast-cancer-in-combination-to-parp-inhibition
#11
Rania El Botty, Florence Coussy, Rana Hatem, Franck Assayag, Sophie Chateau-Joubert, Jean-Luc Servely, Sophie Leboucher, Charles Fouillade, Sophie Vacher, Bérengère Ouine, Aurélie Cartier, Leanne de Koning, Paul Cottu, Ivan Bièche, Elisabetta Marangoni
Breast cancer is a complex disease in which each patient could present several genetic alterations that are therapeutically relevant in cancers. Here we explored the therapeutic benefit of combining PARP and mTOR inhibitors in a context of DNA repair deficiency and PI3K pathway activation. The combination of everolimus and olaparib was tested in BRCA2-mutated patient-derived xenografts (PDX) carrying alterations in the PI3K/AKT/mTOR pathway. An RPPA analysis of different signalling pathways was performed in untreated and treated xenografts...
July 3, 2018: Oncotarget
https://www.readbyqxmd.com/read/30027292/association-of-transforming-growth-factor-%C3%AE-polymorphism-c-509t-with-radiation-induced-fibrosis-among-patients-with-early-stage-breast-cancer-a-secondary-analysis-of-a-randomized-clinical-trial
#12
Aaron J Grossberg, Xiudong Lei, Ting Xu, Simona F Shaitelman, Karen E Hoffman, Elizabeth S Bloom, Michael C Stauder, Welela Tereffe, Pamela J Schlembach, Wendy A Woodward, Thomas A Buchholz, Benjamin D Smith
Importance: Whether genetic factors can identify patients at risk for radiation-induced fibrosis remains unconfirmed. Objective: To assess the association between the C-509T variant allele in the promoter region of TGFB1 and breast fibrosis 3 years after radiotherapy. Design, Setting, and Participants: This is an a priori-specified, prospective, cohort study nested in an open-label, randomized clinical trial, which was conducted in community-based and academic cancer centers to compare hypofractionated whole-breast irradiation (WBI) (42...
July 19, 2018: JAMA Oncology
https://www.readbyqxmd.com/read/30006681/molecular-biology-as-a-tool-for-the-treatment-of-cancer
#13
REVIEW
Carla de Castro Sant' Anna, Alberto Gomes Ferreira Junior, Paulo Soares, Fabricio Tuji, Eric Paschoal, Luiz Cláudio Chaves, Rommel Rodriguez Burbano
Cancer is a genetic disease characterized by uncontrolled cell growth and metastasis. Cancer can have a number of causes, such the activation of oncogenes, the inactivation of tumor-suppressing genes, mutagenesis provoked by external factors, and epigenetic modifications. The development of diagnostic tools and treatments using a molecular biological approach permits the use of sensitive, low-cost, noninvasive tests for cancer patients. Biomarkers can be used to provide rapid, personalized oncology, in particular the molecular diagnosis of chronic myeloid leukemia, and gastric, colon, and breast cancers...
July 13, 2018: Clinical and Experimental Medicine
https://www.readbyqxmd.com/read/30006586/care-of-adults-with-neurofibromatosis-type-1-a-clinical-practice-resource-of-the-american-college-of-medical-genetics-and-genomics-acmg
#14
Douglas R Stewart, Bruce R Korf, Katherine L Nathanson, David A Stevenson, Kaleb Yohay
DISCLAIMER: This practice resource is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this practice resource is completely voluntary and does not necessarily assure a successful medical outcome. This practice resource should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results...
July 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30005767/breast-cancer-genetics-and-indications-for-prophylactic-mastectomy
#15
REVIEW
Helen Krontiras, Meagan Farmer, Julie Whatley
As more genetic information becomes available to inform breast cancer treatment, screening, and risk-reduction approaches, clinicians must become more knowledgeable about possible genetic testing and prevention strategies, including outcomes, benefits, risks, and limitations. The aim of this article is to define and distinguish high- and moderate-risk breast cancer predisposition genes, summarize the clinical recommendations that may be considered based on the identification of pathogenic variants (mutations) in these genes, and indications for risk-reducing and contralateral prophylactic mastectomy...
August 2018: Surgical Clinics of North America
https://www.readbyqxmd.com/read/30004834/a-systematic-review-of-how-young-people-live-with-inherited-disease-what-can-we-learn-for-li-fraumeni-syndrome
#16
Rowan Forbes Shepherd, Alexandra Lewis, Louise A Keogh, Allison Werner-Lin, Martin B Delatycki, Laura E Forrest
PURPOSE: Li-Fraumeni syndrome (LFS), a multiorgan cancer predisposition caused by germline TP53 mutations, confers significant cancer risks for young people (15-39 years). Yet evidence of how individuals experience this condition and the psychosocial implications are lacking. Therefore, this systematic review assessed the psychosocial implications of living with, or at risk of, an autosomal dominant condition as a young person, to draw evidence that may be analogous for young people with LFS...
July 13, 2018: Journal of Adolescent and Young Adult Oncology
https://www.readbyqxmd.com/read/30001421/improving-comprehension-of-genetic-counseling-for-hereditary-breast-and-ovarian-cancer-clients-with-a-visual-tool
#17
Muy-Kheng M Tea, Yen Y Tan, Christine Staudigl, Birgit Eibl, Romana Renz, Ella Asseryanis, Andreas Berger, Georg Pfeiler, Christian F Singer
OBJECTIVE: Genetic counseling and testing can be offered to individuals who are at high risk of carrying a breast cancer (BRCA) gene mutation. However, the content of genetic counseling could be difficult to understand due to complex medical information. The aim of this study was to investigate if comprehension can be improved with a new genetic counseling tool (NGCT hereafter; a tool that combines complex medical information with pictures, diagrams and tables) as compared to conventional oral-only genetic counseling (CGC)...
2018: PloS One
https://www.readbyqxmd.com/read/29998407/underdiagnosis-of-hereditary-breast-and-ovarian-cancer-in-medicare-patients-genetic-testing-criteria-miss-the-mark
#18
Shan Yang, Jennifer E Axilbund, Erin O'Leary, Scott T Michalski, Robbie Evans, Stephen E Lincoln, Edward D Esplin, Robert L Nussbaum
BACKGROUND: An estimated 5-10% of breast and ovarian cancers are due to hereditary causes such as hereditary breast and ovarian cancer (HBOC) syndrome. Medicare, the third-party payer that covers 44 million patients in the United States, has implemented a set of clinical criteria to determine coverage for the testing of the BRCA1 and BRCA2 genes. These criteria, developed to identify carriers of BRCA1/2 variants, have not been evaluated in the panel testing era. This study investigated a series of Medicare patients undergoing genetic testing for HBOC to determine the efficacy of genetic testing criteria in identifying patients with hereditary risk...
July 11, 2018: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/29997232/normal-breast-derived-epithelial-cells-with-luminal-and-intrinsic-subtype-enriched-gene-expression-document-inter-individual-differences-in-their-differentiation-cascade
#19
Brijesh Kumar, Mayuri S Prasad, Poornima Bhat-Nakshatri, Manjushree Anjanappa, Maitri Kalra, Natascia Marino, Anna Maria V Storniolo, Xi Rao, Sheng Liu, Jun Wan, Yunlong Liu, Harikrishna Nakshatri
Cell type origin is one of the factors that determine molecular features of tumors, but resources to validate this concept are scarce because of technical difficulties in propagating major cell types of adult organs. Previous attempts to generate such resources to study breast cancer have yielded predominantly basal-type cell lines. We have created a panel of immortalized cell lines from core breast biopsies of ancestry-mapped healthy women that form ductal structures similar to normal breast in 3D cultures and expressed markers of major cell types including the luminal-differentiated cell-enriched ERα-FOXA1-GATA3 transcription factor network...
July 11, 2018: Cancer Research
https://www.readbyqxmd.com/read/29982661/risk-of-different-cancers-among-first-degree-relatives-of-pancreatic-cancer-patients-influence-of-probands-susceptibility-gene-mutation-status
#20
Samuel O Antwi, Sarah E Fagan, Kari G Chaffee, William R Bamlet, Chunling Hu, Eric C Polley, Steven N Hart, Hermela Shimelis, Jenna Lilyquist, Rohan D Gnanaolivu, Robert R McWilliams, Ann L Oberg, Fergus J Couch, Gloria M Petersen
Background: Increased risk of malignancies other than pancreatic cancer (PC) has been reported among first-degree relatives (FDRs) of PC patients; however, the roles of susceptibility gene mutations are unclear. We assessed risk for 15 cancers among FDRs of unselected PC probands. Methods: Data on 17 162 FDRs, with more than 336 000 person-years at risk, identified through 2305 sequential PC probands enrolled at Mayo Clinic (2000-2016) were analyzed. Family history data were provided by the probands...
July 2, 2018: Journal of the National Cancer Institute
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