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https://www.readbyqxmd.com/read/28723660/poly-adp-ribose-polymerase-inhibitors-as-radiosensitizers-a-systematic-review-of-pre-clinical-and-clinical-human-studies
#1
REVIEW
Paul Lesueur, François Chevalier, Jean-Baptiste Austry, Waisse Waissi, Hélène Burckel, Georges Noël, Jean-Louis Habrand, Yannick Saintigny, Florence Joly
BACKGROUND: Poly-(ADP-Ribose)-Polymerase (PARP) inhibitors are becoming important actors of anti-neoplasic agents landscape, with recent but narrow FDA's approvals for ovarian BRCA mutated cancers and prostatic cancer. Nevertheless, PARP inhibitors are also promising drugs for combined treatments particularly with radiotherapy. More than seven PARP inhibitors have been currently developed. Central Role of PARP in DNA repair, makes consider PARP inhibitor as potential radiosensitizers, especially for tumors with DNA repair defects, such as BRCA mutation, because of synthetic lethality...
July 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28717182/widespread-alternative-exon-usage-in-clinically-distinct-subtypes-of-invasive-ductal-carcinoma
#2
Sunniva Stordal Bjørklund, Anshuman Panda, Surendra Kumar, Michael Seiler, Doug Robinson, Jinesh Gheeya, Ming Yao, Grethe I Grenaker Alnæs, Deborah Toppmeyer, Margit Riis, Bjørn Naume, Anne-Lise Børresen-Dale, Vessela N Kristensen, Shridar Ganesan, Gyan Bhanot
Cancer cells can have different patterns of exon usage of individual genes when compared to normal tissue, suggesting that alternative splicing may play a role in shaping the tumor phenotype. The discovery and identification of gene variants has increased dramatically with the introduction of RNA-sequencing technology, which enables whole transcriptome analysis of known, as well as novel isoforms. Here we report alternative splicing and transcriptional events among subtypes of invasive ductal carcinoma in The Cancer Genome Atlas (TCGA) Breast Invasive Carcinoma (BRCA) cohort...
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28709830/pathologic-findings-in-breast-fallopian-tube-and-ovary-specimens-in-non-brca-hereditary-breast-and-or-ovarian-cancer-syndromes-a-study-of-18-patients-with-deleterious-germline-mutations-in-rad51c-bard1-brip1-palb2-mutyh-or-chek2
#3
J Kenneth Schoolmeester, Ann M Moyer, McKinsey L Goodenberger, Gary L Keeney, Jodi M Carter, Jamie N Bakkum-Gamez
Germline BRCA mutations account for a significant proportion of genetic/familial risk of breast and ovarian cancer (GBOC) susceptibility, but a broader spectrum of GBOC susceptibility genes has emerged in recent years. Genotype to phenotype correlations are known for some established forms of GBOC, however whether such correlations exist for less common GBOC variants is unclear. We reviewed our institution's experience with non-BRCA GBOC, looking specifically for trends in pathologic and clinical features. Eighteen women with deleterious germline mutations in RAD51C (5 patients), BARD1 (1 patient), BRIP1 (2 patients), PALB2 (3 patients), MUTYH (2 patients) or CHEK2 (5 patients) were identified between January 2011 and December 2016...
July 11, 2017: Human Pathology
https://www.readbyqxmd.com/read/28706968/brca1-reversion-mutation-acquired-after-treatment-identified-by-liquid-biopsy
#4
Paul Mayor, Laurie M Gay, Shashikant Lele, Julia A Elvin
•Secondary, reversion mutations in BRCA genes can restore protein function.•Reversion mutations can underlie resistance to therapies such as PARP inhibitors.•Reversion mutations arise during the course of treatment.
August 2017: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/28706906/mesothelioma-recent-highlights
#5
REVIEW
Michele Carbone, Haining Yang
Recent discoveries have elucidated some of the mechanisms responsible for the development of mesothelioma. These discoveries are: (I) the critical role of chronic inflammation in promoting mesothelioma growth, driven by the release of high mobility group box protein-1 (HMGB1) following asbestos deposition in tissues and its potential role as a biomarker to identify asbestos exposed individuals and mesothelioma patients; (II) the discovery that inherited heterozygous germline mutations of the deubiquitylase BRCA-associated protein 1 (BAP1) cause a high incidence of mesothelioma in some families; and that (III) germline BAP1 mutations lower the threshold of asbestos required to cause mesothelioma in mice, evidence of gene X environment interaction...
June 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28706762/metastatic-breast-cancer-with-brca-mutation-discovered-by-next-generation-sequencing-responding-to-olaparib
#6
Wajeeha Rizvi, Phu Truong, Quoc Truong
Breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2) mutations are associated with hereditary breast and ovarian cancer syndromes (HBOC). However, certain individuals with breast cancer do not meet high-risk factors for hereditary breast cancer screening based on age, family history, and biology of malignancy. We present a patient with relapsed breast cancer who developed progressive disease with significant tumor burden causing a recurrent pleural effusion. Next-generation sequencing (NGS) done on a tumor biopsy was positive for the BRCA2 mutation...
June 11, 2017: Curēus
https://www.readbyqxmd.com/read/28699461/new-blood-test-could-extend-prostate-cancer-survival
#7
(no author information available yet)
A three-in-one blood test could transform treatment of advanced prostate cancer through precision drugs targeting mutations in the BRCA genes.
July 12, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28699130/cost-effectiveness-of-risk-reducing-mastectomy-versus-surveillance-in-brca-mutation-carriers-with-a-history-of-ovarian-cancer
#8
Charlotte Gamble, Laura J Havrilesky, Evan R Myers, Junzo P Chino, Scott Hollenbeck, Jennifer K Plichta, P Kelly Marcom, E Shelley Hwang, Noah D Kauff, Rachel A Greenup
BACKGROUND: The appropriate management of breast cancer risk in BRCA mutation carriers following ovarian cancer diagnosis remains unclear. We sought to determine the survival benefit and cost effectiveness of risk-reducing mastectomy (RRM) among women with BRCA1/2 mutations following stage II-IV ovarian cancer. DESIGN: We constructed a decision model from a third-party payer perspective to compare annual screening with magnetic resonance imaging (MRI) and mammography to annual screening followed by RRM with reconstruction following ovarian cancer diagnosis...
July 11, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28695914/genetics-brca-mutant-breast-ovarian-cancer-revealed
#9
Peter Sidaway
No abstract text is available yet for this article.
July 11, 2017: Nature Reviews. Clinical Oncology
https://www.readbyqxmd.com/read/28692916/discovery-mechanism-and-metabolism-studies-of-2-3-difluorophenyl-linker-containing-parp1-inhibitors-with-enhanced-in%C3%A2-vivo-efficacy-for-cancer-therapy
#10
Wenhua Chen, Ne Guo, Minghui Qi, Haiying Dai, Minghuang Hong, Longfei Guan, Xiajuan Huan, Shanshan Song, Jinxue He, Yingqing Wang, Yong Xi, Xinying Yang, Yanyan Shen, Yi Su, Yiming Sun, Yinglei Gao, Yi Chen, Jian Ding, Yun Tang, Guobin Ren, Zehong Miao, Jian Li
Poly (ADP-ribose) polymerase 1 (PARP1) is overexpressed in a variety of cancers, especially breast and ovarian cancers, and tumor cell lines deficient in breast cancer gene 1/2 (BRCA1/2) are highly sensitive to PARP1 inhibition. In this study, with the help of molecular docking, we identified a novel series of 2,3-difluorophenyl-linker analogues (15-54) derived from olaparib (1) as PARP1 inhibitors. Lead optimization led to the identification of 47, which showed high selectivity and high potency against PARP1 enzyme (IC50 = 1...
June 27, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28692889/dynamic-real-time-in-vivo-confocal-laser-endomicroscopy-of-the-fallopian-tube-during-laparoscopy-in-the-prevention-of-ovarian-cancer
#11
Gautier Chene, Lauriane Chauvy, Annie Buenerd, Stéphanie Moret, Béatrice Nadaud, Philippe Chabert, Gery Lamblin
OBJECTIVES: Recently it has been postulated that most ovarian cancers have a tubal origin. The identification of preinvasive tubal lesions would be of great interest in the early diagnosis of ovarian cancer. Optical biopsy has been developed and validated in the detection of precancerous lesions (such as Barrett's oesophagus). The first objective of this study was to assess the feasibility of optical biopsy in the study of fallopian tubes during laparoscopy. The second objective was to describe the images in benign premalignant and malignant tubes with a histopathological and immunohistochemical (p53 and Ki67 expressions) correlation...
July 5, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28692638/the-first-nationwide-multicenter-prevalence-study-of-germline-brca1-and-brca2-mutations-in-chinese-ovarian-cancer-patients
#12
Xiaohua Wu, Lingying Wu, Beihua Kong, Jihong Liu, Rutie Yin, Hao Wen, Ning Li, Hualei Bu, Yanling Feng, Qingli Li, Xuesong Lu, Jia Wei, Xuehua Zhu, John Mills, Gillian Ellison, Thorsten Gutjahr, Yuzhen Liu
OBJECTIVE: Subjects with germline BRCA1/2 mutations (gBRCAm) have an increased risk of developing ovarian cancer and enhanced sensitivity to platinum-containing agents and PARP (poly[ADP-ribose] polymerase) inhibitors. BRCA mutations in Asian patients are poorly understood compared with other populations. We aimed to investigate gBRCAm prevalence and characteristics in Chinese ovarian cancer patients. METHODS: We conducted the first nationwide multicenter gBRCAm prevalence study in China...
July 7, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28690658/influence-of-the-angelina-jolie-announcement-and-insurance-reimbursement-on-practice-patterns-for-hereditary-breast-cancer
#13
Jihyoun Lee, Sungwon Kim, Eunyoung Kang, Suyeon Park, Zisun Kim, Min Hyuk Lee
Lack of awareness, the stigma of carrying a genetic mutation, and economic factors are barriers to acceptance of BRCA genetic testing or appropriate risk management. We aimed to investigate the influence of Angelina Jolie's announcement of her medical experience and also health insurance reimbursement for BRCA gene testing on practice patterns for hereditary breast and ovarian cancer (HBOC). A survey regarding changes in practice patterns for HBOC before and after the announcement was conducted online. The rate of BRCA gene testing was obtained from the National Health Insurance Review and Assessment Service database...
June 2017: Journal of Breast Cancer
https://www.readbyqxmd.com/read/28690137/cost-effectiveness-of-population-based-brca-testing-with-varying-ashkenazi-jewish-ancestry
#14
Ranjit Manchanda, Shreeya Patel, Antonis C Antoniou, Ephrat Levy-Lahad, Clare Turnbull, Gareth Evans, John Hopper, Robert J Macinnis, Usha Menon, Ian Jacobs, Rosa Legood
BACKGROUND: Population based BRCA1/BRCA2 testing has been found to be cost-effective compared to family-history based testing in Ashkenazi-Jewish (AJ) women >30years with four AJ-grandparents. However, individuals may have one, two or three AJ grandparents and cost-effectiveness data are lacking at these lower BRCA prevalence estimates. We present an updated cost-effectiveness analysis of population BRCA1/BRCA2 testing for women with one, two and three AJ grandparents. METHODS: Life time costs and effects of population and family-history based testing were compared using a decision analysis model...
July 6, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28688637/lymph-node-status-as-a-prognostic-factor-in-brca-positive-breast-cancer
#15
Jeeyeon Lee, Ho Yong Park, Jin Hyang Jung, Wan Wook Kim, Yee Soo Chae, Soo Jung Lee, Seokwon Lee, Youngtae Bae
BACKGROUND: The incidence of ipsilateral breast tumor recurrence (IBTR) seems to be higher in BRCA-positive than sporadic breast cancer. We compared the oncologic outcomes of BRCA-positive breast cancer patients managed with breast-conserving surgery, simple mastectomy or mastectomy followed by immediate reconstruction. MATERIALS/METHODS: Thirty four BRCA-positive breast cancers were grouped according to surgical treatment: breast-conserving surgery (n = 17), simple mastectomy (n = 9), and mastectomy followed by immediate reconstruction (n = 8)...
July 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28684355/studies-of-protein-protein-interactions-in-fanconi-anemia-pathway-to-unravel-the-dna-interstrand-crosslink-repair-mechanism
#16
Mohd Quadir Siddiqui, Yogendra S Rajpurohit, Pankaj S Thapa, Ganesh Kumar Maurya, Kuheli Banerjee, Mudassar Ali Khan, Pragnya Panda, Syed K Hasan, Nikhil Gadewal, Hari S Misra, Ashok K Varma
Fanconi anemia (FA), a cancer predisposition syndrome exhibits hallmark feature of radial chromosome formation, and hypersensitivity to DNA crosslinking agents. A set of FA pathway proteins mainly FANCI, FANCD2 and BRCA2 are expressed to repair the covalent crosslink between the dsDNA. However, FA, BRCA pathways play an important role in DNA ICL repair as well as in homologous recombination repair, but the presumptive role of FA-BRCA proteins has not clearly explored particularly in context to function associated protein-protein interactions (PPIs)...
July 3, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28683895/patient-experience-with-breast-reconstruction-process-following-bilateral-mastectomy-in-brca-mutation-carriers
#17
Suliat Nurudeen, Hao Guo, Yoon Chun, Suzanne Coopey, William Barry, Judy Garber, Laura S Dominici
BACKGROUND: Many patients with BRCA mutations consider bilateral mastectomy for risk reduction (RRM) or when diagnosed with cancer (TM). Limited data exist to help inform patients about the reconstruction (recon) process. We sought to identify factors associated with unforeseen procedures following RRM or TM in BRCA positive patients. METHODS: We retrospectively evaluated records from 178 BRCA positive patients who had RRM or TM with recon from 1997 to 2013 in a single healthcare system...
June 28, 2017: American Journal of Surgery
https://www.readbyqxmd.com/read/28678739/brca1-and-brca2-founder-mutations-account-for-78-of-germline-carriers-among-hereditary-breast-cancer-families-in-chile
#18
Carolina Alvarez, Teresa Tapia, Elisa Perez-Moreno, Patricia Gajardo-Meneses, Catalina Ruiz, Mabel Rios, Claudio Missarelli, Mariela Silva, Adolfo Cruz, Luis Matamala, Luis Carvajal-Carmona, Mauricio Camus, Pilar Carvallo
Identifying founder mutations in BRCA1 and BRCA2 in specific populations constitute a valuable opportunity for genetic screening. Several studies from different populations have reported recurrent and/or founder mutations representing a relevant proportion of BRCA mutation carriers. In Latin America, only few founder mutations have been described. We screened 453 Chilean patients with hereditary breast cancer for mutations in BRCA1 and BRCA2. For recurrent mutations, we genotyped 11 microsatellite markers in BRCA1 and BRCA2 in order to determine a founder effect through haplotype analysis...
June 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28669566/recent-patterns-in-genetic-testing-for-breast-and-ovarian-cancer-risk-in-the-u-s
#19
Xuesong Han, Ahmedin Jemal
INTRODUCTION: Mutations in BRCA genes are strongly associated with increased risk of breast and ovarian cancer, and it is recommended that women at high risk for these mutations be referred for genetic counseling and testing. The Affordable Care Act (ACA) provision implemented in 2010 eliminated cost sharing for BRCA genetic testing for privately insured women with family history of BRCA-related cancers. METHODS: Using a nationally representative sample from the National Health Interview Survey, this study examined trends in genetic testing for breast and ovarian cancer risk from 2005 to 2015 among women by family history and insurance status...
June 29, 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28667565/is-low-fmr1-cgg-repeat-length-in-males-correlated-with-family-history-of-brca-associated-cancers-an-exploratory-analysis-of-medical-records
#20
Hallee C Adamsheck, Elizabeth M Petty, Jinkuk Hong, Mei W Baker, Murray H Brilliant, Marsha R Mailick
The FMR1 gene has been studied extensively with regard to expansions and premutations, but much less research has focused on potential effects of low CGG repeat length. Previous studies have demonstrated that BRCA1/2 positive women are more likely to have an FMR1 genotype with one low CGG allele, and that women with both FMR1 alleles in the low CGG repeat range are more likely to have had breast cancer compared to women with normal numbers of CGG repeats. However, there has been no research as to whether low CGG repeat length impacts cancer risks in men...
June 30, 2017: Journal of Genetic Counseling
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