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https://www.readbyqxmd.com/read/28096903/anxiety-and-depression-symptoms-among-women-attending-group-based-patient-education-courses-for-hereditary-breast-and-ovarian-cancer
#1
Wenche Listøl, Hildegunn Høberg-Vetti, Geir Egil Eide, Cathrine Bjorvatn
BACKGROUND: Women carrying BRCA-mutations are facing significant challenges, including decision making regarding surveillance and risk-reducing surgery. They often report that they are left alone with these important decisions. In order to enhance the genetic counselling session we organized a group-based patient education (GPE) course for women with BRCA-mutations. The study aims were to characterize women attending a group-based patient education (GPE) course for hereditary breast and ovarian cancer, consider the usefulness of the course, evaluate symptoms of anxiety and depression among the participants, and finally investigate whether their levels of anxiety and depression changed from before to after the course session...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28096648/identification-of-genetic-and-epigenetic-variants-associated-with-breast-cancer-prognosis-by-integrative-bioinformatics-analysis
#2
Arunima Shilpi, Yingtao Bi, Segun Jung, Samir K Patra, Ramana V Davuluri
INTRODUCTION: Breast cancer being a multifaceted disease constitutes a wide spectrum of histological and molecular variability in tumors. However, the task for the identification of these variances is complicated by the interplay between inherited genetic and epigenetic aberrations. Therefore, this study provides an extrapolate outlook to the sinister partnership between DNA methylation and single-nucleotide polymorphisms (SNPs) in relevance to the identification of prognostic markers in breast cancer...
2017: Cancer Informatics
https://www.readbyqxmd.com/read/28093663/large-prospective-analysis-of-the-reasons-patients-do-not-pursue-brca-genetic-testing-following-genetic-counseling
#3
Sommer Hayden, Sarah Mange, Debra Duquette, Nancie Petrucelli, Victoria M Raymond
Genetic counseling (GC) and genetic testing (GT) identifies high-risk individuals who benefit from enhanced medical management. Not all individuals undergo GT following GC and understanding the reasons why can impact clinical efficiency, reduce GT costs through appropriate identification of high-risk individuals, and demonstrate the value of pre-GT GC. A collaborative project sponsored by the Michigan Department of Health and Human Services prospectively collects anonymous data on BRCA-related GC visits performed by providers in Michigan, including demographics, patient/family cancer history, GT results, and reasons for declining GT...
January 16, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28092355/highly-favorable-outcome-in-brca-mutated-metastatic-breast-cancer-patients-receiving-high-dose-chemotherapy-and-autologous-hematopoietic-stem-cell-transplantation
#4
L Boudin, A Gonçalves, R Sabatier, J Moretta, P Sfumato, P Asseeva, D Livon, F Bertucci, J-M Extra, C Tarpin, G Houvenaeghel, E Lambaudie, A Tallet, M Resbeut, H Sobol, E Charafe-Jauffret, B Calmels, C Lemarie, J-M Boher, P Viens, F Eisinger, C Chabannon
No abstract text is available yet for this article.
January 16, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28073972/awareness-and-attitude-regarding-reproductive-options-of-persons-carrying-a-brca-mutation-and-their-partners
#5
J J G Gietel-Habets, C E M de Die-Smulders, I A P Derks-Smeets, A Tibben, V C G Tjan-Heijnen, R van Golde, E Gomez-Garcia, C M Kets, L A D M van Osch
STUDY QUESTION: To what extent are BRCA mutation carriers and their partners in the Netherlands aware about preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) as reproductive options and what is their attitude towards these options? SUMMARY ANSWER: Awareness of PGD (66%) and PND (61%) among BRCA mutation carriers and their partners is relatively high and 80% and 26%, respectively, of BRCA carriers and their partners find offering PGD and PND for hereditary breast and ovarian cancer (HBOC) acceptable...
January 9, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28066861/the-incidence-of-cardiomyopathy-in-brca1-and-brca2-mutation-carriers-after-anthracycline-based-adjuvant-chemotherapy
#6
Edward J Pearson, Anju Nair, Yahya Daoud, Joanne L Blum
PURPOSE: Breast cancer remains the fourth-leading cause of death in the United States. Nearly 10% of breast cancers are hereditary, with deleterious mutations in BRCA1 and BRCA2 genes being the leading cause. Anthracycline chemotherapy, used commonly for breast cancer, carries cardiotoxicity risk. Recent studies demonstrated anthracycline-induced cardiac failure in homozygous BRCA2-deficient mice and increased rates of heart failure in homozygous BRCA1-deficient mice following ischemic insult...
January 9, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28055979/-back-to-a-false-normality-new-intriguing-mechanisms-of-resistance-to-parp-inhibitors
#7
REVIEW
Lorena Incorvaia, Francesc Passiglia, Sergio Rizzo, Antonio Galvano, Angela Listì, Nadia Barraco, Rossella Maragliano, Valentina Calò, Clara Natoli, Marcello Ciaccio, Viviana Bazan, Antonio Russo
Several evidences have shown that BRCA mutations increased tumor-cells sensitivity to PARP inhibitors by synthetic lethality leading to an accelerated development of several compounds targeting the PARP enzymes system as anticancer agents for clinical setting. Most of such compounds have been investigated in ovarian and breast cancer, showing promising efficacy in BRCA-mutated patients. Recently clinical studies of PARP-inhibitors have been extended across different tumor types harboring BRCA-mutations, including also "BRCA-like" sporadic tumors with homologous recombination deficiency (HRD)...
December 31, 2016: Oncotarget
https://www.readbyqxmd.com/read/28049253/prostate-cancer-in-a-patient-with-a-family-history-of-brca-mutation-a-case-report-and-literature-review
#8
Won Hoon Song, Sung Han Kim, Jae Young Joung, Weon Seo Park, Ho Kyung Seo, Jinsoo Chung, Kang Hyun Lee
One of the most significant risk factors for prostate cancer (PC) is a family history of the disease, with germ-line mutations in the breast cancer predisposition gene (BRCA) 2 conferring the highest risk. We here report a 56-year-old man presented with painful gait disturbance and diagnosed PC with multiple disseminated bone metastases. The patient had a strong family history of breast cancer with his 2 nieces affected. Furthermore, his aunts and uncles from both sides were diagnosed with stomach, ovarian, and colorectal cancers...
February 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28034904/rad51-mediates-resistance-of-cancer-stem-cells-to-parp-inhibition-in-triple-negative-breast-cancer
#9
Yajing Liu, Monika L Burness, Rachel Martin-Trevino, Joey Guy, Shoumin Bai, Ramdane Harouaka, Michael D Brooks, Li Shang, Alex Fox, Tahra K Luther, April Davis, Trenton L Baker, Justin Colacino, Shawn G Clouthier, Zhi-Ming Shao, Max S Wicha, Suling Liu
INTRODUCTION: PARP inhibitors have shown promising results in early studies for treatment of breast cancer susceptibility gene (BRCA)-deficient breast cancers; however, resistance ultimately develops. Furthermore, the benefit of PARP inhibitors (PARPi) in triple-negative breast cancers (TNBC) remains unknown. Recent evidence indicates that in TNBCs, cells that display "cancer stem cell" properties are resistant to conventional treatments, mediate tumor metastasis, and contribute to recurrence...
December 29, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28026205/preoperative-breast-mri-surgeons-patient-selection-patterns-and-potential-bias-in-outcomes-analyses
#10
Jiyon Lee, Elaine Tanaka, Peter R Eby, Shouhao Zhou, Wei Wei, Christine Eppelheimer, Vilert A Loving
OBJECTIVE: The purpose of this study is to determine which patient- and tumor-related and clinical variables influence dedicated breast surgeons' and general surgeons' referrals for preoperative breast MRI for patients with newly diagnosed breast cancer. MATERIALS AND METHODS: Surgeons who perform breast surgery responded to a survey from June 16, 2014, through August 11, 2014. Participants self-identified as breast or general surgeons and provided professional practice details...
December 27, 2016: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28008216/understanding-genetic-breast-cancer-risk-processing-loci-of-the-brca-gist-intelligent-tutoring-system
#11
Christopher R Wolfe, Valerie F Reyna, Colin L Widmer, Elizabeth M Cedillos-Whynott, Priscila G Brust-Renck, Audrey M Weil, Xiangen Hu
The BRCA Gist Intelligent Tutoring System helps women understand and make decisions about genetic testing for breast cancer risk. BRCA Gist is guided by Fuzzy-Trace Theory, (FTT) and built using AutoTutor Lite. It responds differently to participants depending on what they say. Seven tutorial dialogues requiring explanation and argumentation are guided by three FTT concepts: forming gist explanations in one's own words, emphasizing decision-relevant information, and deliberating the consequences of decision alternatives...
July 2016: Learning and Individual Differences
https://www.readbyqxmd.com/read/28006668/design-and-synthesis-of-novel-7-aminosubstituted-pyrido-2-3-b-pyrazines-exhibiting-anti-breast-cancer-activity
#12
Orestis Argyros, Nikolaos Lougiakis, Eva Kouvari, Alexandra Papafotika, Catherine P Raptopoulou, Vassilis Psycharis, Savvas Christoforidis, Nicole Pouli, Panagiotis Marakos, Constantin Tamvakopoulos
Breast cancer (BrCa) remains an unmet medical need despite the revolutionary development of antibody treatments and protein kinase inhibitors. In the current study, a series of novel substituted pyridopyrazine derivatives have been rationally designed and evaluated as multi-kinase inhibitors in the PI3K pathway. The target compounds were prepared from 6-amino-2-picoline, which upon nitration and selective reduction was converted to suitably substituted 6-methyl-7-aminopyrido[2,3-b]pyrazines. Suitable manipulation of the former amines provided the designed analogues, which were then assessed in vitro against several BrCa cell lines using the MTT cytotoxicity assay...
December 12, 2016: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/27993796/phase-i-dose-escalation-study-of-the-pi3kinase-pathway-inhibitor-bkm120-and-the-oral-poly-adp-ribose-polymerase-parp-inhibitor-olaparib-for-the-treatment-of-high-grade-serous-ovarian-and-breast-cancer
#13
U A Matulonis, G M Wulf, W T Barry, M Birrer, S N Westin, S Farooq, K M Bell-McGuinn, E Obermayer, C Whalen, T Spagnoletti, W Luo, H Liu, R C Hok, C Aghajanian, D B Solit, G B Mills, B S Taylor, H Won, M F Berger, S Palakurthi, J Liu, L C Cantley, E Winer
BACKGROUND: Based upon preclinical synergy in murine models, we performed a phase 1 trial to determine the maximum tolerated dose (MTD), toxicities, pharmacokinetics, and biomarkers of response for the combination of BKM120, a PI3K inhibitor, and olaparib, a PARP inhibitor. PATIENTS AND METHODS: Olaparib was administered twice daily (tablet formulation) and BKM120 daily on a 28-day cycle, both orally. A 3 + 3 dose-escalation design was employed with the primary objective of defining the combination MTD, and secondary objectives were to define toxicities, activity, and pharmacokinetic profiles...
December 19, 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/27976925/previvors-uncertainty-management-strategies-for-hereditary-breast-and-ovarian-cancer
#14
Marleah Dean, Lindy G Davidson
Individuals with a genetic predisposition to develop hereditary breast and ovarian cancer (HBOC), but who have not been diagnosed with cancer, are referred to as previvors. Although genetic testing may reduce previvors' worries about whether or not they have a high genetic cancer risk, testing positive produces negative emotions and long-term uncertainty-thus requiring the management of uncertainty. Existing research indicates family, friends, and social support networks are limited in their assistance for previvors' uncertainty management...
December 15, 2016: Health Communication
https://www.readbyqxmd.com/read/27974384/brca-testing-by-single-molecule-molecular-inversion-probes
#15
Kornelia Neveling, Arjen R Mensenkamp, Ronny Derks, Michael Kwint, Hicham Ouchene, Marloes Steehouwer, Bart van Lier, Ermanno Bosgoed, Alwin Rikken, Marloes Tychon, Dimitra Zafeiropoulou, Steven Castelein, Jayne Hehir-Kwa, Djie Tjwan Thung, Tom Hofste, Stefan H Lelieveld, Stijn M M Bertens, Ivo B J F Adan, Astrid Eijkelenboom, Bastiaan B Tops, Helger Yntema, Tomasz Stokowy, Per M Knappskog, Hildegunn Høberg-Vetti, Vidar M Steen, Evan Boyle, Beth Martin, Marjolijn J L Ligtenberg, Jay Shendure, Marcel R Nelen, Alexander Hoischen
BACKGROUND: Despite advances in next generation DNA sequencing (NGS), NGS-based single gene tests for diagnostic purposes require improvements in terms of completeness, quality, speed, and cost. Single-molecule molecular inversion probes (smMIPs) are a technology with unrealized potential in the area of clinical genetic testing. In this proof-of-concept study, we selected 2 frequently requested single gene tests, those for breast cancer 1, early onset (BRCA1) and breast cancer 2, early onset (BRCA2), and developed an automated work flow based on smMIPs...
December 14, 2016: Clinical Chemistry
https://www.readbyqxmd.com/read/27973154/cost-effectiveness-of-brca-mutation-testing-for-early-stage-breast-cancer-patients-with-family-history-in-malaysia
#16
K K Lim, S Y Yoon, S H Teo, N A Mohd Taib, F H Shabaruddin, M Dahlui, N Chaiyakunapruk
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27972420/incidence-of-germline%C3%A2-brca%C3%A2-1-and-2-mutated-breast-cancer-in-the-eu5
#17
R S Kim, A Peterson, A Isherwood, H Uppal, A Barlev
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27959926/predictors-of-chemosensitivity-in-triple-negative-breast-cancer-an-integrated-genomic-analysis
#18
Tingting Jiang, Weiwei Shi, Vikram B Wali, Lőrinc S Pongor, Charles Li, Rosanna Lau, Balázs Győrffy, Richard P Lifton, William F Symmans, Lajos Pusztai, Christos Hatzis
BACKGROUND: Triple negative breast cancer (TNBC) is a highly heterogeneous and aggressive disease, and although no effective targeted therapies are available to date, about one-third of patients with TNBC achieve pathologic complete response (pCR) from standard-of-care anthracycline/taxane (ACT) chemotherapy. The heterogeneity of these tumors, however, has hindered the discovery of effective biomarkers to identify such patients. METHODS AND FINDINGS: We performed whole exome sequencing on 29 TNBC cases from the MD Anderson Cancer Center (MDACC) selected because they had either pCR (n = 18) or extensive residual disease (n = 11) after neoadjuvant chemotherapy, with cases from The Cancer Genome Atlas (TCGA; n = 144) and METABRIC (n = 278) cohorts serving as validation cohorts...
December 2016: PLoS Medicine
https://www.readbyqxmd.com/read/27958297/delivering-widespread-brca-testing-and-parp-inhibition-to-patients-with-ovarian-cancer
#19
REVIEW
Angela George, Stan Kaye, Susana Banerjee
The treatment of patients with ovarian cancer is rapidly changing following the success of poly [ADP-ribose] polymerase (PARP) inhibitors in clinical trials. Olaparib is the first PARP inhibitor to be approved by the EMA and FDA for BRCA-mutated ovarian cancer. Germ line BRCA mutation status is now established as a predictive biomarker of potential benefit from treatment with a PARP inhibitor; therefore, knowledge of the BRCA status of an individual patient with ovarian cancer is essential, in order to guide treatment decisions...
December 13, 2016: Nature Reviews. Clinical Oncology
https://www.readbyqxmd.com/read/27935989/brcaness-and-prognosis-in-triple-negative-breast-cancer-patients-treated-with-neoadjuvant-chemotherapy
#20
Hirokazu Tanino, Yoshimasa Kosaka, Hiroshi Nishimiya, Youko Tanaka, Naoko Minatani, Mariko Kikuchi, Akiko Shida, Mina Waraya, Hiroshi Katoh, Takumo Enomoto, Norihiko Sengoku, Sabine Kajita, Robert M Hoffman, Masahiko Watanabe
BRCAness is defined as the set of traits in which BRCA1 dysfunction, arising from gene mutation, methylation or deletion, results in DNA repair deficiency. In the present study, we addressed BRCAness, therapeutic efficacy, recurrence, and survival in patients with triple negative breast cancer (TNBC) who were treated with neoadjuvant chemotherapy at Kitasato University Hospital, Japan, between April 2006 and October 2012. BRCAness was determined by preoperative core needle biopsy (CNB) specimens and surgical specimens...
2016: PloS One
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