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https://www.readbyqxmd.com/read/27906166/which-brca-genetic-testing-programs-are-ready-for-implementation-in-health-care-a-systematic-review-of-economic-evaluations
#1
Elvira D'Andrea, Carolina Marzuillo, Corrado De Vito, Marco Di Marco, Erica Pitini, Maria Rosaria Vacchio, Paolo Villari
PURPOSE: There is considerable evidence regarding the efficacy and effectiveness of BRCA genetic testing programs, but whether they represent good use of financial resources is not clear. Therefore, we aimed to identify the main health-care programs for BRCA testing and to evaluate their cost-effectiveness. METHODS: We performed a systematic review of full economic evaluations of health-care programs involving BRCA testing. RESULTS: Nine economic evaluations were included, and four main categories of BRCA testing programs were identified: (i) population-based genetic screening of individuals without cancer, either comprehensive or targeted based on ancestry; (ii) family history (FH)-based genetic screening, i...
December 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27899185/genetic-predisposition-in-gynecologic-cancers
#2
REVIEW
Molly S Daniels, Karen H Lu
This review article discusses the diagnosis and management of hereditary ovarian cancer and hereditary uterine cancer. The key recommendations highlighted are: All women with high grade non-mucinous epithelial ovarian cancer should be offered at least BRCA1 and BRCA2 genetic testing. The care of women with BRCA-associated ovarian cancer should be tailored to their mutation status. Risk-reducing bilateral salpingo-oophorectomy is recommended for women with BRCA1/2 mutations. Women with endometrial cancer should be assessed for the possibility of Lynch syndrome...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27899183/updates-on-breast-cancer-genetics-clinical-implications-of-detecting-syndromes-of-inherited-increased-susceptibility-to-breast-cancer
#3
REVIEW
Erin F Cobain, Kara J Milliron, Sofia D Merajver
Since the initial discovery that pathogenic germline alterations in BRCA 1/2 increase susceptibility to breast and ovarian cancer, many additional genes have now been discovered that also increase breast cancer risk. Given that several more genes have now been implicated in hereditary breast cancer syndromes, there is increased clinical use of multigene panel testing to evaluate patients with a suspected genetic predisposition to breast cancer. While this is most certainly a cost-effective approach, broader testing strategies have resulted in a higher likelihood of identifying moderate-penetrance genes, for which management guidelines regarding breast cancer risk reduction have not been firmly established...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27896972/data-sharing-and-reproducible-clinical-genetic-testing-successes-and-challenges
#4
Shan Yang, Melissa Cline, Can Zhang, Benedict Paten, Stephen E Lincoln
Open sharing of clinical genetic data promises to both monitor and eventually improve the reproducibility of variant interpretation among clinical testing laboratories. A significant public data resource has been developed by the NIH ClinVar initiative, which includes submissions from hundreds of laboratories and clinics worldwide. We analyzed a subset of ClinVar data focused on specific clinical areas and we find high reproducibility (>90% concordance) among labs, although challenges for the community are clearly identified in this dataset...
2016: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/27884198/use-of-poly-adp-ribose-polymerase-parp-inhibitors-in-cancer-cells-bearing-ddr-defects-the-rationale-for-their-inclusion-in-the-clinic
#5
REVIEW
Aniello Cerrato, Francesco Morra, Angela Celetti
BACKGROUND: DNA damage response (DDR) defects imply genomic instability and favor tumor progression but make the cells vulnerable to the pharmacological inhibition of the DNA repairing enzymes. Targeting cellular proteins like PARPs, which cooperate and complement molecular defects of the DDR process, induces a specific lethality in DDR defective cancer cells and represents an anti-cancer strategy. Normal cells can tolerate the DNA damage generated by PARP inhibition because of an efficient homologous recombination mechanism (HR); in contrast, cancer cells with a deficient HR are unable to manage the DSBs and appear especially sensitive to the PARP inhibitors (PARPi) effects...
November 24, 2016: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/27856924/prevention-of-carboplatin-induced-hypersensitivity-reactions-in-women-with-ovarian-cancer
#6
Katarzyna J Jerzak, Shaidah Deghan Manshadi, Pamela Ng, Manjula Maganti, Jeanna M McCuaig, Marcus Bulter, Amit Oza, Helen J Mackay
BACKGROUND: Carboplatin-based chemotherapy offers high response rates and improved overall survival for women with epithelial ovarian cancer, but its use is limited by the occurrence of hypersensitivity reactions. To evaluate the efficacy of prophylactic diphenhydramine for hypersensitivity reaction prevention, we reviewed the incidence of hypersensitivity reactions and identified patients at high risk of hypersensitivity reactions. METHODS: Women receiving ≥6 cycles of carboplatin-based chemotherapy for epithelial ovarian cancer were identified from our institutional database at the Princess Margaret Cancer Centre...
November 17, 2016: Journal of Oncology Pharmacy Practice
https://www.readbyqxmd.com/read/27821315/current-perspectives-on-recommendations-for-brca-genetic-testing-in-ovarian-cancer-patients
#7
Ignace Vergote, Susana Banerjee, Anne-Marie Gerdes, Christi van Asperen, Christian Marth, Fatima Vaz, Isabelle Ray-Coquard, Dominique Stoppa-Lyonnet, Antonio Gonzalez-Martin, Jalid Sehouli, Nicoletta Colombo
Traditionally, BRCA genetic testing has been undertaken to identify patients and family members at future risk of developing cancer and patients have been referred for testing based on family history. However, the now recognised risk of ovarian cancer (OC) patients, even those with no known family history, harbouring a mutation in BRCA1/2, together with the first poly adenosine diphosphate ribose polymerase inhibitor (PARPi; olaparib [Lynparza]) being licenced for the treatment of BRCA-mutated OC, has led to reconsideration of referral criteria for OC patients...
November 4, 2016: European Journal of Cancer
https://www.readbyqxmd.com/read/27803593/association-between-basal-like-phenotype-and-brca1-2-germline-mutations-in-korean-breast-cancer-patients
#8
J Jung, E Kang, J M Gwak, A N Seo, S Y Park, A S Lee, H Baek, S Chae, E K Kim, S W Kim
INTRODUCTION: BRCA mutation testing allows index patients and their families to be provided with appropriate cancer risk-reduction strategies. Because of the low prevalence of BRCA mutations in unselected breast cancer patients and the high cost of genetic testing, it is important to identify the subset of women who are likely to carry BRCA mutations. In the present study, we examined the association between BRCA1/2 germline mutations and the immunohistochemical features of breast cancer...
October 2016: Current Oncology
https://www.readbyqxmd.com/read/27760710/recent-discoveries-in-the-molecular-pathogenesis-of-the-inherited-bone-marrow-failure-syndrome-fanconi-anemia
#9
Nicholas E Mamrak, Akiko Shimamura, Niall G Howlett
Fanconi anemia (FA) is a rare autosomal and X-linked genetic disease characterized by congenital abnormalities, progressive bone marrow failure (BMF), and increased cancer risk during early adulthood. The median lifespan for FA patients is approximately 33years. The proteins encoded by the FA genes function together in the FA-BRCA pathway to repair DNA damage and to maintain genome stability. Within the past two years, five new FA genes have been identified-RAD51/FANCR, BRCA1/FANCS, UBE2T/FANCT, XRCC2/FANCU, and REV7/FANCV-bringing the total number of disease-causing genes to 21...
October 13, 2016: Blood Reviews
https://www.readbyqxmd.com/read/27749552/effect-of-brca-germline-mutations-on-breast-cancer-prognosis-a-systematic-review-and-meta-analysis
#10
Zora Baretta, Simone Mocellin, Elena Goldin, Olufunmilayo I Olopade, Dezheng Huo
BACKGROUND: The contribution of BRCA germline mutational status to breast cancer patients' prognosis is unclear. We aimed to systematically review and perform meta-analysis of the available evidence of effects of BRCA germline mutations on multiple survival outcomes of breast cancer patients as a whole and in specific subgroups of interest, including those with triple negative breast cancer, those with Ashkenazi Jewish ancestry, and patients with stage I-III disease. METHODS: Sixty studies met all inclusion criteria and were considered for this meta-analysis...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27736844/parp-inhibitors-for-brca1-2-mutated-and-sporadic-ovarian-cancer-current-practice-and-future-directions
#11
REVIEW
G E Konecny, R S Kristeleit
Poly(ADP-ribose) polymerase (PARP) inhibitors cause targeted tumour cell death in homologous recombination (HR)-deficient cancers, including BRCA-mutated tumours, by exploiting synthetic lethality. PARP inhibitors are being evaluated in late-stage clinical trials of ovarian cancer (OC). Recently, olaparib was the first PARP inhibitor approved in the European Union and United States for the treatment of advanced BRCA-mutated OC. This paper reviews the role of BRCA mutations for tumorigenesis and PARP inhibitor sensitivity, and summarises the clinical development of PARP inhibitors for the treatment of patients diagnosed with OC...
November 8, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27716873/the-current-status-of-parp-inhibitors-in-ovarian-cancer
#12
Jennifer McLachlan, Angela George, Susana Banerjee
Recent advances in our understanding of the molecular biology of epithelial ovarian cancer have led to the development of a number of targeted therapies, including poly-ADP-ribose polymerase (PARP) inhibitors. PARP inhibitors are a novel class of therapeutic agents that target tumors with deficiencies in the homologous recombination DNA repair pathway. Early studies have shown significant efficacy for PARP inhibitors in patients with germline BRCA1/2 mutations. It has become evident that BRCA wild-type patients with other defects in the homologous recombination repair pathway benefit from this therapeutic approach...
October 13, 2016: Tumori
https://www.readbyqxmd.com/read/27716388/the-genetics-of-breast-cancer-risk-in-the-post-genome-era-thoughts-on-study-design-to-move-past-brca-and-towards-clinical-relevance
#13
Andrew D Skol, Mark M Sasaki, Kenan Onel
More than 12 % of women will be diagnosed with breast cancer in their lifetime. Although there have been tremendous advances in elucidating genetic risk factors underlying both familial and sporadic breast cancer, much of the genetic contribution to breast cancer etiology remains unknown. The discovery of BRCA1 and BRCA2 over 20 years ago remains the seminal event in the field and has paved the way for the discovery of other high-penetrance susceptibility genes by linkage analysis. The advent of genome-wide association studies made possible the next wave of discoveries, in which over 80 low-penetrance and moderate-penetrance variants were identified...
October 3, 2016: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/27690218/prognostic-significance-of-brca-mutations-in-ovarian-cancer-an-updated-systematic-review-with-meta-analysis
#14
Kai Xu, Shouhua Yang, Yingchao Zhao
There is no consensus on the syntheses concerning the impact of BRCA mutation on ovarian cancer survival. A systematic review and meta-analysis of observational studies was conducted that evaluated the impact of BRCA mutations on the survival outcomes of patients with ovarian cancer. The primary outcome measure was overall survival (OS) and secondary outcome was progression-free survival (PFS). We presented data with hazard ratios (HRs) and 95% confidence interval (CI) and pooled them using the random-effects models...
September 28, 2016: Oncotarget
https://www.readbyqxmd.com/read/27673289/the-status-of-poly-adenosine-diphosphate-ribose-polymerase-parp-inhibitors-in-ovarian-cancer-part-2-extending-the-scope-beyond-olaparib-and-brca1-2-mutations
#15
Rowan E Miller, Jonathan A Ledermann
Poly(adenosine diphosphate-ribose) polymerase (PARP) inhibitors have shown clinical activity in epithelial ovarian cancer, leading both the US Food and Drug Administration (FDA) and the European Medicines Agency to approve olaparib for tumors characterized by BRCA1 and BRCA2 mutations. However, it is becoming increasingly evident that tumors that share molecular features with BRCA-mutant tumors-a concept known as BRCAness-also may exhibit defective homologous recombination DNA repair, and therefore will respond to PARP inhibition...
September 2016: Clinical Advances in Hematology & Oncology: H&O
https://www.readbyqxmd.com/read/27670569/malignancy-rate-number-needed-to-treat-and-positive-predictive-value-for-breast-mri
#16
John S Kennedy, Patrick A Robbins
Breast MRI is being used more frequently for advanced screening for breast cancer. Patients may be at increased risk, or are symptomatic, with nonsuspicious mammograms. There is little data regarding the likelihood of a recommendation for biopsy, or for detecting a malignancy, in this population. We intended to determine the malignancy rate, number needed to treat, and positive predictive value for patients receiving adjunctive MRI at our institution. A retrospective review of all breast MRIs from 2008 to 2010 was done...
September 2016: American Surgeon
https://www.readbyqxmd.com/read/27670257/pathologic-findings-at-risk-reducing-salpingo-oophorectomy-rrso-in-germline-brca-mutation-carriers-with-breast-cancer-significance-of-bilateral-rrso-at-the-optimal-age-in-germline-brca-mutation-carriers
#17
Young Jae Lee, Shin Wha Lee, Kyu Rae Kim, Kyung Hae Jung, Jong Won Lee, Yong Man Kim
OBJECTIVE: Most BRCA1/2 carriers do not undergo risk-reducing salpingo-oophorectomy (RRSO) by the recommended age. This study aimed to find the incidence of precursor lesions and cancer after RRSO. METHODS: We retrospectively reviewed breast cancer patients identified as BRCA mutation carriers who underwent RRSO at Asan Medical Center, Seoul, Korea, from 2010 to 2014. From 2013, all cases were examined according to the Sectioning and Extensively Examining the Fimbria (SEE/FIM) protocol and underwent immunohistochemically staining...
August 8, 2016: Journal of Gynecologic Oncology
https://www.readbyqxmd.com/read/27659521/brca-mutations-and-survival-in-breast-cancer-an-updated-systematic-review-and-meta-analysis
#18
Yaning Zhu, Jian Wu, Chengwan Zhang, Suan Sun, Jian Zhang, Wenjie Liu, Jian Huang, Zhihong Zhang
BRCA mutations occur frequently in breast cancer (BC), but their prognostic impact on outcomes of BC has not been determined. We conducted an updated meta-analysis on the association between BRCA mutations and survival in patients with BC. Electronic databases were searched. The primary outcome measure was overall survival (OS), and the secondary outcome measures included breast cancer-specific survival (BCSS) and event-free survival (EFS). Hazard ratios (HR) and 95% confidence interval (CI) were abstracted and pooled with random-effect modeling...
September 21, 2016: Oncotarget
https://www.readbyqxmd.com/read/27649974/risk-reduction-and-survival-benefit-of-prophylactic-surgery-in-brca-mutation-carriers-a-systematic-review
#19
Kandice K Ludwig, Joan Neuner, Annabelle Butler, Jennifer L Geurts, Amanda L Kong
BACKGROUND: Mutations in BRCA1 or BRCA2 genes results in an elevated risk for developing both breast and ovarian cancers over the lifetime of affected carriers. General surgeons may be faced with questions about surgical risk reduction and survival benefit of prophylactic surgery. METHODS: A systematic literature review was performed using the electronic databases PubMed, OVID MEDLINE, and Scopus comparing prophylactic surgery vs observation with respect to breast and ovarian cancer risk reduction and mortality in BRCA mutation carriers...
October 2016: American Journal of Surgery
https://www.readbyqxmd.com/read/27642590/predictors-and-modulators-of-synthetic-lethality-an-update-on-parp-inhibitors-and-personalized-medicine
#20
REVIEW
Stephen Murata, Catherine Zhang, Nathan Finch, Kevin Zhang, Loredana Campo, Eun-Kyoung Breuer
Poly(ADP-ribose) polymerase (PARP) inhibitors have proven to be successful agents in inducing synthetic lethality in several malignancies. Several PARP inhibitors have reached clinical trial testing for treatment in different cancers, and, recently, Olaparib (AZD2281) has gained both United States Food and Drug Administration (USFDA) and the European Commission (EC) approval for use in BRCA-mutated advanced ovarian cancer treatment. The need to identify biomarkers, their interactions in DNA damage repair pathways, and their potential utility in identifying patients who are candidates for PARP inhibitor treatment is well recognized...
2016: BioMed Research International
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