keyword
MENU ▼
Read by QxMD icon Read
search

BRCA 1

keyword
https://www.readbyqxmd.com/read/28343309/breast-cancer-detection-and-tumor-characteristics-in-brca1-and-brca2-mutation-carriers
#1
Julia Krammer, Katja Pinker-Domenig, Mark E Robson, Mithat Gönen, Blanca Bernard-Davila, Elizabeth A Morris, Debra A Mangino, Maxine S Jochelson
PURPOSE: To describe imaging findings, detection rates, and tumor characteristics of breast cancers in a large series of patients with BRCA1 and BRCA2 mutations to potentially streamline screening strategies. METHODS: An IRB-approved, HIPAA-compliant retrospective analysis of 496 BRCA mutation carriers diagnosed with breast carcinoma from 1999 to 2013 was performed. Institutional database and electronic medical records were reviewed for mammography and MRI imaging...
March 25, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28339459/functional-classification-of-dna-variants-by-hybrid-minigenes-identification-of-30-spliceogenic-variants-of-brca2-exons-17-and-18
#2
Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco
Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for genomic medicine. Likewise, an increasing amount of evidence indicates that genetic variants can have deleterious effects on pre-mRNA splicing. Our goal was to investigate the impact on splicing of a set of reported variants of BRCA2 exons 17 and 18 to assess their role in hereditary breast cancer and to identify critical regulatory elements that may constitute hotspots for spliceogenic variants...
March 24, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28339037/the-long-non-coding-rna-lncfoxo1-suppresses-growth-of-human-breast-cancer-cells-through-association-with-bap1
#3
Jie Xi, Jing Feng, Qian Li, Xia Li, Saitian Zeng
Breast cancer, one of the common cancers of women, is the leading cause of death among women below the age of 50 years in western countries. Long non-coding RNAs (lncRNAs) have been shown to be involved in diverse biological processes, both physical and pathological. However, to date, only a few lncRNAs have been functionally identified in breast cancer, and the overall pathophysiological contributions of lncRNAs to breast cancer remain largely unknown. In the present study, we identified a novel lncRNA termed lncFOXO1 through microarray screening...
March 24, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28327944/a-phase-2-randomized-double-blind-placebo-%C3%A2-controlled-study-of-chemo-immunotherapy-combination-using-motolimod-with-pegylated-liposomal-doxorubicin-in-recurrent-or-persistent-ovarian-cancer-a-gynecologic-oncology-group-partners-study
#4
B J Monk, M F Brady, C Aghajanian, H A Lankes, T Rizack, J Leach, J M Fowler, R Higgins, P Hanjani, M Morgan, R Edwards, W Bradley, T Kolevska, P Foukas, E Swisher, K S Anderson, R Gottardo, J K Bryan, M Newkirk, K L Manjarrez, R S Mannel, R M Hershberg, G Coukos
Background: A phase 2, randomized, placebo-controlled trial was conducted in women with recurrent epithelial ovarian carcinoma to evaluate the efficacy and safety of motolimod-a Toll-like receptor 8 (TLR8) agonist that stimulates robust innate immune responses-combined with pegylated liposomal doxorubicin (PLD), a chemotherapeutic that induces immunogenic cell death. Patients and methods: Women with ovarian, fallopian tube, or primary peritoneal carcinoma were randomized 1 : 1 to receive PLD in combination with blinded motolimod or placebo...
February 21, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28320467/the-effect-of-hormone-therapy-on-quality-of-life-and-breast-cancer-risk-after-risk-reducing-salpingo-oophorectomy-a-systematic-review
#5
Tasneem Siyam, Sue Ross, Sandra Campbell, Dean T Eurich, Nesé Yuksel
BACKGROUND: It is unclear if the use of hormone therapy (HT) in carriers of BRCA mutations improves the quality of life (QOL) without increasing the risk of breast cancer following a risk-reducing salpingo-oophorectomy (RRSO). Our objective was to assess the effect of HT on QOL and breast cancer risk, after RRSO. METHODS: We searched MEDLINE, EMBASE, CINHAL, and others, from inception to July 22, 2016, to identify relevant studies. Two reviewers independently screened identified records for controlled trials and observational studies that addressed the effect of HT on QOL and breast cancer risk in women with BRCA mutations, post RRSO...
March 21, 2017: BMC Women's Health
https://www.readbyqxmd.com/read/28316110/proteasome-ubiquitin-receptor-psmd4-is-an-amplification-target-in-breast-cancer-and-may-predict-sensitivity-to-parpi
#6
Marlena S Fejzo, Lee Anderson, Hsiao-Wang Chen, Enrique Guandique, Ondrej Kalous, Dylan Conklin, Dennis J Slamon
Poly(ADP-ribose) polymerase 1 (PARP1) is an enzyme involved in DNA repair under investigation as a chemotherapeutic target. Current randomized phase 3 trials of PARPi in metastatic breast cancer are limited to patients with documented BRCA1/2 mutations and no biomarker of PARPi beyond BRCA status is available. In an effort to identify novel biomarkers for PARP inihibition, we created a cell line (HCC1187/TALRES) resistant to the PARP1 inhibitor talazoparib. Herein we show by array-CGH that HCC1187/TALRES has a selective loss of the proteasome ubiquitin receptor PSMD4 amplicon resulting in significant down-regulation of PSMD4...
March 18, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28314837/risk-reducing-strategies-for-ovarian-cancer-in-brca-mutation-carriers-a-balancing-act
#7
Roi Tschernichovsky, Annekathryn Goodman
OBJECTIVE: The objective of this study was to review the role of bilateral salpingo-oophorectomy in BRCA mutation (mBRCA) carriers and alternative interventions in risk reduction of ovarian cancer (OC). MATERIALS AND METHODS: A systematic review using PubMed, MEDLINE, EMBASE, and the Cochrane library was conducted to identify studies of different strategies to prevent OC in mBRCA carriers, including bilateral salpingo-oophorectomy, prophylactic salpingectomy with delayed oophorectomy, intensive surveillance, and chemoprevention...
March 17, 2017: Oncologist
https://www.readbyqxmd.com/read/28294317/the-spectrum-of-brca-mutations-and-characteristics-of-brca-associated-breast-cancers-in-china-screening-of-2991-patients-and-1043-controls-by-next-generation-sequencing
#8
Guan-Tian Lang, Jin-Xiu Shi, Xin Hu, Chen-Hui Zhang, Ling Shan, Chuan-Gui Song, Zhi-Gang Zhuang, A-Yong Cao, Hong Ling, Ke-Da Yu, Li Shan, Meng-Hong Sun, Xiao-Yan Zhou, Wei Huang, Zhi-Ming Shao
To characterize the prevalence of BRCA mutations and characteristics of BRCA carriers in China and to update the clinical recommendations for BRCA testing, we conducted a wide screen for BRCA mutations using next-generation sequencing (NGS). A total of 4,034 Chinese subjects were screened for germline BRCA1/2 mutations, including 2,991 breast cancer patients and 1,043 healthy individuals from the community enrolled as controls. We developed an NGS-based approach to perform BRCA1/2 screening. BRCA mutations were identified in 9...
March 14, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28280302/defective-dna-repair-mechanisms-in-prostate-cancer-impact-of-olaparib
#9
REVIEW
Francesca De Felice, Vincenzo Tombolini, Francesco Marampon, Angela Musella, Claudia Marchetti
The field of prostate oncology has continued to change dramatically. It has truly become a field that is intensely linked to molecular genetic alterations, especially DNA-repair defects. Germline breast cancer 1 gene (BRCA1) and breast cancer 2 gene (BRCA2) mutations are implicated in the highest risk of prostate cancer (PC) predisposition and aggressiveness. Poly adenosine diphosphate ribose polymerase (PARP) proteins play a key role in DNA repair mechanisms and represent a valid target for new therapies. Olaparib is an oral PARP inhibitor that blocks DNA repair pathway and coupled with BRCA mutated-disease results in tumor cell death...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28242752/phase-i-dose-escalation-2-part-trial-of-poly-adp-ribose-polymerase-inhibitor-talazoparib-in-patients-with-advanced-germline-brca1-2-mutations-and-selected-sporadic-cancers
#10
Johann de Bono, Ramesh K Ramanathan, Lida Mina, Rashmi Chugh, John Glaspy, Saeed Rafii, Stan Kaye, Jasgit Sachdev, John Heymach, David C Smith, Joshua W Henshaw, Ashleigh Herriott, Miranda Patterson, Nicola J Curtin, Lauren Averett Byers, Zev A Wainberg
Talazoparib inhibits poly(ADP-ribose) polymerase (PARP) catalytic activity, trapping PARP1 on damaged DNA and causing cell death in BRCA1/2-mutated cells. We evaluated talazoparib therapy in this 2-part, phase I, first-in-human trial. Antitumor activity, maximum tolerated dose (MTD), pharmacokinetics, and pharmacodynamics of once-daily talazoparib were determined in an open-label, multicenter, dose-escalation study (NCT01286987). The MTD was 1.0 mg/day, with an elimination half-life of 50 hours. Treatment-related adverse events included fatigue (26/71 patients; 37%) and anemia (25/71 patients; 35%)...
February 27, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28235830/telomere-length-is-predictive-of-breast-cancer-risk-in-brca2-mutation-carriers
#11
Birna Thorvaldsdottir, Margret Aradottir, Olafur A Stefansson, Sigridur K Bodvarsdottir, Jorunn E Eyfjörd
BACKGROUND: Germline BRCA2 mutations increase risk of breast cancer and other malignancies. BRCA2 has been shown to play a role in telomere protection and maintenance. Telomere length (TL) has been studied as a modifying factor for various diseases, including breast cancer. Previous research on TL in BRCA mutation carriers has produced contradicting results. METHODS: We measured blood TL, using a high-throughput monochrome multiplex qPCR method, in a well-defined Icelandic cohort of female BRCA2 mutation carriers (n=169), sporadic breast cancer patients (n=561) and healthy controls (n=537)...
February 24, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28215734/clinical-experiences-with-the-use-of-ultrapro-%C3%A2-mesh-in-single-stage-direct-to-implant-immediate-postmastectomy-breast-reconstruction-in-102-patients-a-retrospective-cohort-study
#12
D Pukancsik, P Kelemen, G Gulyás, M Újhelyi, E Kovács, K Éles, N Mészáros, I Kenessey, P Pálházi, T Kovács, M Kásler, Z Mátrai
BACKGROUND: Acellular dermal matrices have been used for direct-to-implant (DTI) breast reconstruction (BR), eliminating the load of the lower pole skin envelope. However, the available allograft matrices add considerable health care costs. This study examined the long-term follow-up of synthetic ULTRAPRO(®) mesh as a low-cost potential alternative to biological matrices. PATIENTS AND METHODS: A retrospective cohort study was performed between January 2013 and January 2016, involved 112 early-stage breast cancer and/or BRCA 1/2 patients, and evaluated 189 immediate DTI BRs following skin-, areola- or nipple-sparing mastectomy using ULTRAPRO(®) mesh...
February 6, 2017: European Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28210382/paraneoplastic-dermatomyositis-with-cutaneous-and-myopathic-disease-responsive-to-adrenocorticotropic-hormone-therapy
#13
Marisa Wolff, Christopher Mancuso, Karan Lal, Damian Dicostanzo, Charles Gropper
Dermatomyositis is a myopathic or amyopathic autoimmune connective tissue disease that presents with classic dermatologic findings ranging from: poikilodermatous photosensitivity (shawl sign), eyelid edema and violaceous-pigmentation (heliotrope sign), lichenoid eruptions on the knuckles and elbows (Gottron's sign), periungual telangiectasias, and ragged cuticles (Samitz sign). Up to 30 percent of adult-onset cases of dermatomyositis may represent a paraneoplastic syndrome warranting a thorough work-up for malignancy...
January 2017: Journal of Clinical and Aesthetic Dermatology
https://www.readbyqxmd.com/read/28184943/analysis-of-chromosomal-radiosensitivity-of-healthy-brca2-mutation-carriers-and-non-carriers-in-brca-families-with-the-g2-micronucleus-assay
#14
Annelot Baert, Julie Depuydt, Tom Van Maerken, Bruce Poppe, Fransiska Malfait, Tim Van Damme, Sylvia De Nobele, Gianpaolo Perletti, Kim De Leeneer, Kathleen B M Claes, Anne Vral
Breast cancer risk drastically increases in individuals with a heterozygous germline BRCA1 or BRCA2 mutation, while it is estimated to equal the population risk for relatives without the familial mutation (non-carriers). The aim of the present study was to use a G2 phase-specific micronucleus assay to investigate whether lymphocytes of healthy BRCA2 mutation carriers are characterized by increased radiosensitivity compared to controls without a family history of breast/ovarian cancer and how this relates to healthy non-carrier relatives...
March 2017: Oncology Reports
https://www.readbyqxmd.com/read/28183138/overall-survival-and-clinical-characteristics-of-brca-mutation-carriers-with-stage-i-ii-pancreatic-cancer
#15
Talia Golan, Tal Sella, Eileen M O'Reilly, Matthew H G Katz, Ron Epelbaum, David P Kelsen, Ayelet Borgida, Hannah Maynard, Hedy Kindler, Eitan Friedmen, Milind Javle, Steven Gallinger
BACKGROUND: BRCA1/BRCA2 germ line (GL) mutation carriers with pancreatic adenocarcinoma (PDAC) may have distinct outcomes. We recently described an apparent more favourable prognosis of surgically resected BRCA-associated PDAC patients in a single-arm, uncontrolled, retrospective study. However, the prognostic impact of GL BRCA1/2 mutations in surgically resected PDAC has not been compared with a matched control population. METHODS: A larger multi-centre, case-control retrospective analysis was performed...
March 14, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28182268/racial-disparities-in-brca-testing-and-cancer-risk-management-across-a-population-based-sample-of-young-breast-cancer-survivors
#16
Deborah Cragun, Anne Weidner, Courtney Lewis, Devon Bonner, Jongphil Kim, Susan T Vadaparampil, Tuya Pal
BACKGROUND: Breast cancer (BC) disparities may widen with genomic advances. The authors compared non-Hispanic white (NHW), black, and Hispanic BC survivors for 1) cancer risk-management practices among BRCA carriers and 2) provider discussion and receipt of genetic testing. METHODS: A population-based sample of NHW, black, and Hispanic women who had been diagnosed with invasive BC at age 50 years or younger from 2009 to 2012 were recruited through the state cancer registry...
February 9, 2017: Cancer
https://www.readbyqxmd.com/read/28159920/tgfbeta-and-mirna-regulation-in-familial-and-sporadic-breast-cancer
#17
Katia Danza, Simona De Summa, Rosamaria Pinto, Brunella Pilato, Orazio Palumbo, Massimo Carella, Ondina Popescu, Maria Digennaro, Rosanna Lacalamita, Stefania Tommasi
The term 'BRCAness' was introduced to identify sporadic malignant tumors sharing characteristics similar to those germline BRCA-related. Among all mechanisms attributable to BRCA1 expression silencing, a major role has been assigned to microRNAs. MicroRNAs role in familial and sporadic breast cancer has been explored but few data are available about microRNAs involvement in homologous recombination repair control in these breast cancer subgroups. Our aim was to seek microRNAs associated to pathways underlying DNA repair dysfunction in breast cancer according to a family history of the disease...
January 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28159408/brca1-and-brca2-mutation-predictions-using-the-brcapro-and-myriad-models-in-korean-ovarian-cancer-patients
#18
Kyung Jin Eoh, Ji Soo Park, Hyung Seok Park, Seung-Tae Lee, Jeongwoo Han, Jung-Yun Lee, Sang Wun Kim, Sunghoon Kim, Young Tae Kim, Eun Ji Nam
OBJECTIVE: To evaluate the predictive efficacies including sensitivity and positive predictive value of the genetic risk prediction model BRCAPRO and the Myriad BRCA risk calculator in Korean ovarian cancer patients. METHODS: Individuals undergoing genetic testing for BRCA mutations from November 2010-August 2016 were recruited from the Department of Obstetrics and Gynecology at a single institute in Korea. The observed BRCA1 and BRCA2 mutation statuses were compared with the predicted carrier probabilities using BRCAPRO and the Myriad BRCA risk calculator...
February 1, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28152805/a-multidisciplinary-team-approach-to-efficient-breast-cancer-diagnosis
#19
Melissa Shelby, Shefali Birdi, Stephanie Costa Byrum, Julie Annie Yee Billar, Kevin McCabe, Jignesh Patel, Vilert A Loving
88 Background: System inefficiencies result in delayed breast cancer diagnoses. Inefficiencies include any non-value added steps between symptom onset/imaging abnormality to cancer diagnosis and treatment. Diagnostic delays can lead to more advanced disease and may negatively impact survival. Further, optimizing the efficiency of diagnostic evaluation models can reduce barriers to care and improve patient satisfaction. To achieve these efficiency goals, Banner MD Anderson Cancer Center (BMDACC) instituted the Undiagnosed Breast Clinic (UBC)...
March 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28135048/identification-of-recurrent-brca1-mutation-and-its-clinical-relevance-in-chinese-triple-negative-breast-cancer-cohort
#20
Xiaoran Liu, Huiping Li, Bin Shao, Jianmin Wu, Weiyao Kong, Guohong Song, Hanfang Jiang, Jing Wang, Fengling Wan
Triple-negative breast cancer (TNBC) accounts for 15-20% of all newly diagnosed breast cancers, and is enriched for germline mutation of BRCA. In Asian patients diagnosed with breast cancer, 268 deleterious mutations of BRCA1 and 242 of BRCA2 have been identified so far, including a reported BRCA1 frameshift mutation (rs80350973), apparently found only in Asian people, with a low prevalence of 0.3-1.7% in different breast cancer cohorts. Here, we reported the high prevalence (7.2%) of rs80350973 among 125 Chinese patients with TNBC, which implies its mutational predilection for certain breast cancer subtypes...
March 2017: Cancer Medicine
keyword
keyword
27342
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"