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Breast cancer brca

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https://www.readbyqxmd.com/read/28717182/widespread-alternative-exon-usage-in-clinically-distinct-subtypes-of-invasive-ductal-carcinoma
#1
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
#2
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/28706762/metastatic-breast-cancer-with-brca-mutation-discovered-by-next-generation-sequencing-responding-to-olaparib
#3
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/28699130/cost-effectiveness-of-risk-reducing-mastectomy-versus-surveillance-in-brca-mutation-carriers-with-a-history-of-ovarian-cancer
#4
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
#5
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
#6
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/28690658/influence-of-the-angelina-jolie-announcement-and-insurance-reimbursement-on-practice-patterns-for-hereditary-breast-cancer
#7
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
#8
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 with family history-based testing in Ashkenazi-Jewish women were >30 years old with 4 Ashkenazi-Jewish grandparents. However, individuals may have 1, 2, or 3 Ashkenazi-Jewish 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 1, 2, and 3 Ashkenazi-Jewish grandparents...
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
#9
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/28683895/patient-experience-with-breast-reconstruction-process-following-bilateral-mastectomy-in-brca-mutation-carriers
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28666920/neoadjuvant-therapy-for-triple-negative-and-her2-positive-early-breast-cancer
#14
Nadia Harbeck, Oleg Gluz
Today, neoadjuvant therapy can be considered a therapy standard in triple negative (TNBC) and in HER2-positive (HER2+) (particularly in HER2+ HR-) early breast cancer (EBC). Patients with a pathological complete response (pCR) will have a very favorable outcome. In TNBC, chemotherapy with anthracyclines and taxanes is standard. Data regarding addition of bevacizumab are rather heterogeneous. Addition of carboplatin improves pCR rates independent of BRCA status; whether this will translate into a survival benefit is still unclear...
June 27, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28665051/a-phase-1-dose-escalation-study-of-single-agent-veliparib-in-japanese-patients-with-advanced-solid-tumors
#15
Tadaaki Nishikawa, Koji Matsumoto, Kenji Tamura, Hiroyuki Yoshida, Yuichi Imai, Aki Miyasaka, Takuma Onoe, Satoshi Yamaguchi, Chikako Shimizu, Kan Yonemori, Tatsunori Shimoi, Mayu Yunokawa, Hao Xiong, Silpa Nuthalapati, Hideyuki Hashiba, Tsukasa Kiriyama, Terri Leahy, Philip Komarnitsky, Keiichi Fujiwara
Veliparib (ABT-888) is a potent, orally bioavailable poly(ADP-ribose) polymerase-1 and -2 inhibitor. This phase 1 study evaluated the tolerability, pharmacokinetic profile, safety, and preliminary antitumor activity of single-agent veliparib in Japanese patients with advanced solid tumors. Eligible patients were assigned to treatment with veliparib at 200 mg or 400 mg dose; veliparib was self-administered orally twice daily on days 1-28 of 28-day cycles. Dose escalation, following a 3+3 design, defined dose-limiting toxicities, the maximum tolerated dose, and the recommended phase 2 dose...
June 30, 2017: Cancer Science
https://www.readbyqxmd.com/read/28644335/practice-bulletin-number-179-breast-cancer-risk-assessment-and-screening-in-average-risk-women
#16
(no author information available yet)
Breast cancer is the most commonly diagnosed cancer in women in the United States and the second leading cause of cancer death in American women (1). Regular screening mammography starting at age 40 years reduces breast cancer mortality in average-risk women (2). Screening, however, also exposes women to harm through false-positive test results and overdiagnosis of biologically indolent lesions. Differences in balancing benefits and harms have led to differences among major guidelines about what age to start, what age to stop, and how frequently to recommend mammography screening in average-risk women (2-4)...
July 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28644328/practice-bulletin-no-179-summary-breast-cancer-risk-assessment-and-screening-in-average-risk-women
#17
(no author information available yet)
Breast cancer is the most commonly diagnosed cancer in women in the United States and the second leading cause of cancer death in American women (1). Regular screening mammography starting at age 40 years reduces breast cancer mortality in average-risk women (2). Screening, however, also exposes women to harm through false-positive test results and overdiagnosis of biologically indolent lesions. Differences in balancing benefits and harms have led to differences among major guidelines about what age to start, what age to stop, and how frequently to recommend mammography screening in average-risk women (2-4)...
July 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28644128/intraductal-cisplatin-treatment-in-a-brca-associated-breast-cancer-mouse-model-attenuates-tumor-development-but-leads-to-systemic-tumors-in-aged-female-mice
#18
Jolien S de Groot, Paul J van Diest, Miranda van Amersfoort, Eva J Vlug, Xiaojuan Pan, Natalie D Ter Hoeve, Hilde Rosing, Jos H Beijnen, Sameh A Youssef, Alain de Bruin, Jos Jonkers, Elsken van der Wall, Patrick W B Derksen
BRCA deficiency predisposes to the development of invasive breast cancer. In BRCA mutation carriers this risk can increase up to 80%. Currently, bilateral prophylactic mastectomy and prophylactic bilateral salpingo-oophorectomy are the only preventive, albeit radical invasive strategies to prevent breast cancer in BRCA mutation carriers. An alternative non-invasive way to prevent BRCA1-associated breast cancer may be local prophylactic treatment via the nipple.Using a non-invasive intraductal (ID) preclinical intervention strategy, we explored the use of combined cisplatin and poly (ADP)-ribose polymerase 1 (PARP1) inhibition to prevent the development of hereditary breast cancer...
June 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28637432/current-guidelines-for-brca-testing-of-breast-cancer-patients-are-insufficient-to-detect-all-mutation-carriers
#19
Eli Marie Grindedal, Cecilie Heramb, Inga Karsrud, Sarah Louise Ariansen, Lovise Mæhle, Dag Erik Undlien, Jan Norum, Ellen Schlichting
BACKGROUND: Identification of BRCA mutations in breast cancer (BC) patients influences treatment and survival and may be of importance for their relatives. Testing is often restricted to women fulfilling high-risk criteria. However, there is limited knowledge of the sensitivity of such a strategy, and of the clinical aspects of BC caused by BRCA mutations in less selected BC cohorts. The aim of this report was to address these issues by evaluating the results of BRCA testing of BC patients in South-Eastern Norway...
June 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28631178/recent-insights-into-the-molecular-basis-of-fanconi-anemia-genes-modifiers-and-drivers
#20
REVIEW
Ronald S Cheung, Toshiyasu Taniguchi
Fanconi anemia (FA), the most common form of inherited bone marrow failure, predisposes to leukemia and solid tumors. FA is caused by the genetic disruption of a cellular pathway that repairs DNA interstrand crosslinks. The impaired function of this pathway, and the genetic instability that results, is considered the main pathogenic mechanism behind this disease. The identification of breast cancer susceptibility genes (for example, BRCA1/FANCS and BRCA2/FANCD1) as being major players in the FA pathway has led to a surge in molecular studies, resulting in the concept of the FA-BRCA pathway...
June 19, 2017: International Journal of Hematology
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