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Breast cancer brca

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https://www.readbyqxmd.com/read/29165356/fast-detection-of-a-brca2-large-genomic-duplication-by-next-generation-sequencing-as-a-single-procedure-a-case-report
#1
Marcella Nunziato, Flavio Starnone, Barbara Lombardo, Matilde Pensabene, Caterina Condello, Francesco Verdesca, Chiara Carlomagno, Sabino De Placido, Lucio Pastore, Francesco Salvatore, Valeria D'Argenio
The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method...
November 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29164974/clinical-and-molecular-characterization-of-brca-associated-breast-cancer-results-from-the-dbcg
#2
I M H Soenderstrup, A V Laenkholm, M B Jensen, J O Eriksen, A M Gerdes, T V O Hansen, T A Kruse, M J Larsen, I S Pedersen, M Rossing, M Thomassen, B Ejlertsen
BACKGROUND: In breast cancer (BC) patients a cancer predisposing BRCA1/2 mutation is associated with adverse tumor characteristics, risk assessment and treatment allocation. We aimed to estimate overall- (OS) and disease-free survival (DFS) according to tumor characteristics and treatment among women who within two years of definitive surgery for primary BC were shown to carry a mutation in BRCA1/2 . MATERIAL AND METHODS: From the clinical database of the Danish Breast Cancer Group we included 141 BRCA1 and 96 BRCA2 BC patients...
November 22, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/29164420/brcasearch-written-pre-test-information-and-brca1-2-germline-mutation-testing-in-unselected-patients-with-newly-diagnosed-breast-cancer
#3
Martin P Nilsson, Therese Törngren, Karin Henriksson, Ulf Kristoffersson, Anders Kvist, Barbro Silfverberg, Åke Borg, Niklas Loman
PURPOSE: To evaluate a simplified method of pre-test information and germline BRCA1/2 mutation testing. METHODS: In a prospective, single-arm study, comprehensive BRCA1/2 testing was offered to unselected patients with newly diagnosed breast cancer at three hospitals in south Sweden (BRCAsearch, ClinicalTrials.gov Identifier: NCT02557776). Pre-test information was provided by a standardized invitation letter, but the patients could contact a genetic counselor for telephone genetic counseling if they felt a need for that...
November 21, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29163536/drug-hypersensitivity-and-anaphylaxis-in-cancer-and-chronic-inflammatory-diseases-the-role-of-desensitizations
#4
REVIEW
Mariana Castells
Drug allergy is a rising problem in the twenty-first century which affects all populations and races, children, and adults, and for which the recognition, diagnosis, management, and treatment is still not well standardized. Classical and new chemotherapy drugs, monoclonal antibodies (MoAbs), and small molecules to treat cancer and chronic inflammatory diseases are aimed at improving quality of life and life expectancy of patients, but an increasing number of reactions including anaphylaxis precludes their use in targeted populations...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29161300/brca1-and-brca2-mutational-profile-and-prevalence-in-hereditary-breast-and-ovarian-cancer-hboc-probands-from-southern-brazil-are-international-testing-criteria-appropriate-for-this-specific-population
#5
Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, Patricia Ashton-Prolla
BACKGROUND: Germline pathogenic variants in BRCA1 and BRCA2 (BRCA) are the main cause of Hereditary Breast and Ovarian Cancer syndrome (HBOC). METHODS: In this study we evaluated the mutational profile and prevalence of BRCA pathogenic/likely pathogenic variants among probands fulfilling the NCCN HBOC testing criteria. We characterized the clinical profile of these individuals and explored the performance of international testing criteria. RESULTS: A pathogenic/likely pathogenic variant was detected in 19...
2017: PloS One
https://www.readbyqxmd.com/read/29152070/the-role-of-brca-status-on-prognosis-in-patients-with-triple-negative-breast-cancer
#6
Yuxin Xie, Qiheng Gou, Qianqian Wang, Xiaorong Zhong, Hong Zheng
Studies have showed that dysfunction in the breast cancer susceptibility gene (BRCA) is associated with triple-negative breast cancer (TNBC); however, its effect on patient survival remains controversial. We investigated the distribution of BRCA1/2 mutations in unselected Chinese patients with TNBC and explored their roles in prognosis. Then a systematic review and meta-analysis were performed to evaluate the prognostic role of BRCA dysfunction, including BRCA1/2 germline/somatic mutations, BRCA1 promoter methylation, and low BRCA1 protein expression in TNBC patients...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29150351/combined-hormonal-contraceptive-use-and-risk-of-breast-cancer-in-a-population-of-women-with-a-family-history
#7
Giovanni Grandi, Angela Toss, Angelo Cagnacci, Luigi Marcheselli, Silvia Pavesi, Fabio Facchinetti, Stefano Cascinu, Laura Cortesi
BACKGROUND: We estimated the association between combined hormonal contraceptive (CHC) use and breast cancer (BC) incidence in a well-selected population of women at familial risk of BC at the Modena Family Cancer Clinic. MATERIALS AND METHODS: We performed a retrospective cohort study by reviewing the data from 2527 women (4.5% BRCA mutation carriers, 72.2% high risk, and 23.3% intermediate risk using the Modena criteria and the Tyrer-Cuzick model). RESULTS: We did not find any specific feature of breast cancer (infiltration, hormone receptor and HER2 status, onset before age 35 years, multiple diagnoses) in the CHC users (P > ...
November 14, 2017: Clinical Breast Cancer
https://www.readbyqxmd.com/read/29147947/biocompatibility-of-vertically-aligned-multi-walled-carbon-nanotube-scaffolds-for-human-breast-cancer-cell-line-mda-mb-231
#8
E M Akinoglu, K Ozbilgin, P Kilicaslan Sonmez, M M Ozkut, M Giersig, S Inan, E Gumustepe, C Kurtman
The aim of the current study was to determine whether the MWCNT-based scaffold has a suitable structure for cell growth and provides a biocompatible environment for human MDA-MB-231 cell lines. MWCNT-based nanostructured scaffolds were produced by plasma-enhanced chemical vapor deposition (PECVD) technique. MDA-MB-231 cells were seeded on MWCNTs-textured silicon scaffolds and on pristine silicon surfaces. After 1 week of culturing, the scaffolds were prepared for SEM analysis and immunocytochemical staining was performed for the two groups (MWCNT scaffold and pristine silicon surface), using MMP-2, MMP-9, PI3K, AKT and NF-κB primary antibodies...
November 16, 2017: Progress in biomaterials
https://www.readbyqxmd.com/read/29147896/genetic-diagnosis-before-surgery-has-an-impact-on-surgical-decision-in-brca-mutation-carriers-with-breast-cancer
#9
Sungmin Park, Jeong Eon Lee, Jai Min Ryu, Issac Kim, Soo Youn Bae, Se Kyung Lee, Jonghan Yu, Seok Won Kim, Seok Jin Nam
BACKGROUND: The first aim of our study was to evaluate surgical decision-making by BRCA mutation carriers with breast cancer based on the timing of knowledge of their BRCA mutation status. The second aim was to evaluate breast cancer outcome following surgical treatment. METHODS: This was a retrospective study of 164 patients diagnosed with invasive breast cancer, tested for BRCA mutation, and treated with primary surgery between 2004 and 2015 at Samsung Medical Center in Seoul, Korea...
November 16, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/29147583/patterns-of-progression-in-metastatic-estrogen-receptor-positive-breast-cancer-an-argument-for-local-therapy
#10
Patrick Kelly, Zhe Ma, Said Baidas, Rebecca Moroose, Nikita Shah, Roi Dagan, Eleftherios Mamounas, Justin Rineer
Purpose: Despite advances in endocrine therapy (ET), metastatic estrogen receptor positive breast cancer (BrCA) remains incurable. Though the mechanisms of resistance to ET have been studied extensively, the anatomic pattern of disease progression remains poorly characterized. The purpose of this study was to characterize the pattern of progression for patients receiving ET for metastatic BrCA. Methods: The records of 108 patients with metastatic BrCA who progressed on ET were reviewed...
2017: International Journal of Breast Cancer
https://www.readbyqxmd.com/read/29146938/computational-investigation-of-homologous-recombination-dna-repair-deficiency-in-sporadic-breast-cancer
#11
Yue Wang, Matthew H Ung, Sharon Cantor, Chao Cheng
BRCAness has important implications in the management and treatment of patients with breast and ovarian cancer. In this study, we propose a computational framework to measure the BRCAness of breast and ovarian tumor samples based on their gene expression profiles. We define a characteristic profile for BRCAness by comparing gene expression differences between BRCA1/2 mutant familial tumors and sporadic breast cancer tumors while adjusting for relevant clinical factors. With this BRCAness profile, our framework calculates sample-specific BRCA scores, which indicates homologous recombination (HR)-mediated DNA repair pathway activity of samples...
November 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29138235/brip1-overexpression-is-correlated-with-clinical-features-and-survival-outcome-of-luminal-breast-cancer-subtypes
#12
Ishita Gupta, Allal Ouhtit, Adil Al-Ajmi, Syed Gauhar A Rizvi, Hamad Al-Riyami, Marwa Al-Riyami, Yahya Tamimi
In Oman, breast cancer is most common, representing approximately more than 25% of all cancers in women. Relatively younger populations of patients (25 to 40 years) present surprisingly with an aggressive phenotype and advanced tumor stages. In this study, we investigated differential gene expressions in Luminal-A, Luminal-B, Triple negative and Her2+ breast cancer subtypes and compared data to benign tumor samples. We identified a potential candidate gene BRIP1, showing differential expression in the four breast cancer subtypes examined, suggesting that BRIP1 has the profile of a useful diagnostic marker, suitable for targeted therapeutic intervention...
November 14, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/29129231/the-association-between-the-index-of-nutritional-quality-inq-and-breast-cancer-and-the-evaluation-of-nutrient-intake-of-breast-cancer-patients-a-case-control-study
#13
Farhad Vahid, Mahshid Hatami, Mahya Sadeghi, Fatemeh Ameri, Zeinab Faghfoori, Sayed Hossein Davoodi
OBJECTIVE: Breast cancer (BrCa) is the most frequently diagnosed cancer among females and second cancer after lung cancer in many societies. In Iran, the risk for BrCa is 1 in 35 and each year, 8000 new patients have been diagnosed with BrCa. Studies have shown that dietary components are implicated in the etiology of BrCa. The Index of Nutritional Quality (INQ) is a method of quantitative and qualitative analysis of single foods, meals, and diets. The aim of this study was to determine the usefulness of INQs in predicting BrCa risk...
January 2018: Nutrition
https://www.readbyqxmd.com/read/29126396/feasibility-of-structured-endurance-training-and-mediterranean-diet-in-brca1-and-brca2-mutation-carriers-an-interventional-randomized-controlled-multicenter-trial-libre-1
#14
Marion Kiechle, Ricarda Dukatz, Maryam Yahiaoui-Doktor, Anika Berling, Maryam Basrai, Vera Staiger, Uwe Niederberger, Nicole Marter, Jacqueline Lammert, Sabine Grill, Katharina Pfeifer, Kerstin Rhiem, Rita K Schmutzler, Matthias Laudes, Michael Siniatchkin, Martin Halle, Stephan C Bischoff, Christoph Engel
BACKGROUND: Women with pathogenic BRCA germline mutations have an increased risk for breast and ovarian cancer that seems to be modified by life-style factors. Though, randomized trials investigating the impact of lifestyle interventions on cancer prevention and prognosis in BRCA carriers are still missing. METHODS: We implemented a multicenter, prospective randomized controlled trial in BRCA1/2 patients, comparing a lifestyle intervention group (IG) with a control group (CG) with the primary aim to prove feasibility...
November 10, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29120748/doubling-down-on-brca-mutated-cancer
#15
Andrea E Wahner Hendrickson, Scott H Kaufmann, Elizabeth M Swisher
Immunotherapy is changing the landscape of cancer treatment. Nonetheless, not all malignancies respond, possibly due to low mutational load. Recent work in a TP53(-/-)BRCA1-mutant murine breast cancer model indicates that double blockade with two immune checkpoint inhibitors increases the number of tumor-infiltrating lymphocytes and overall survival after DNA damaging chemotherapy, whereas single blockade does not. These findings suggest an approach to enhance the impact of immune checkpoint blockade in BRCA-mutated tumors...
November 2017: Trends in Cancer
https://www.readbyqxmd.com/read/29116469/brca1-deficiency-is-a-recurrent-event-in-early-onset-triple-negative-breast-cancer-a-comprehensive-analysis-of-germline-mutations-and-somatic-promoter-methylation
#16
Rafael Canfield Brianese, Kivvi Duarte de Mello Nakamura, Fernanda Gabriella Dos Santos Ramos de Almeida, Rodrigo Fernandes Ramalho, Bruna Durães de Figueiredo Barros, Elisa Napolitano E Ferreira, Maria Nirvana da Cruz Formiga, Victor Piana de Andrade, Vladmir Claudio Cordeiro de Lima, Dirce Maria Carraro
PURPOSE: BRCA1 germline mutation is closely associated with triple-negative breast cancer. BRCA deficiency leads to impaired DNA repair and tumor development, and understanding this deficiency, in both hereditary and sporadic scenarios, is of great clinical and biological interest. Here, we investigated germline or somatic events that might lead to BRCA1 impairment in triple-negative breast cancer. We also analyzed the clinical implications associated with BRCA deficiency. METHODS: Next-generation sequencing for the BRCA1/2 genes and multiplex ligation-dependent probe amplification (MLPA) for the BRCA1 gene were performed for mutation screening...
November 7, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29110151/patient-reported-factors-associated-with-adherence-to-adjuvant-endocrine-therapy-after-breast-cancer-an-integrative-review
#17
REVIEW
Leah K Lambert, Lynda G Balneaves, A Fuchsia Howard, Carolyn C Gotay
BACKGROUND: Adjuvant endocrine therapy (AET) significantly reduces recurrence and mortality in women with breast cancer (BrCa). Despite the efficacy of AET in improving BrCa outcomes, up to 50% of women do not adhere to prescribed AET regimens. While numerous demographic and clinical predictors influence adherence and persistence, few studies have identified the patient-reported factors that influence AET adherence and persistence. PURPOSE: The aim was to examine the patient-reported personal, social, and structural factors influencing BrCa survivors' adherence and persistence with AET...
November 6, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29108297/phase-i-ib-study-of-olaparib-and-carboplatin-in-women-with-triple-negative-breast-cancer
#18
Jung-Min Lee, John L Hays, Victoria L Chiou, Christina M Annunziata, Elizabeth M Swisher, Maria I Harrell, Minshu Yu, Nicolas Gordon, Tristan M Sissung, Jiuping Ji, William D Figg, Lori Minasian, Stanley Lipkowitz, Bradford J Wood, James Doroshow, Elise C Kohn
PURPOSE: To investigate the safety, activity, and potential biomarkers of response to olaparib and carboplatin combination in sporadic triple negative breast cancer (TNBC). EXPERIMENTAL DESIGN: Metastatic or recurrent TNBC patients with no germline BRCA mutation or with BRCAPro scores <10% and a negative family history were eligible. A 3+3 dose escalation tested olaparib capsules (400mg bid, days1-7) with carboplatin AUC3-5 on day1 or 2 every 21 days, ≤ 8 cycles, with olaparib 400mg bid maintenance...
October 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29096890/breast-cancer-epidemiology-prevention-and-screening
#19
Stella Winters, Charmaine Martin, Daniel Murphy, Navkiran K Shokar
Globally, breast cancer is both the most commonly occurring cancer and the commonest cause of cancer death among women. Available data suggest that incidence and mortality in high-resource countries has been declining whereas incidence and mortality in low-resource countries has been increasing. This pattern is likely to be due to changing risk factor profiles and differences in access to breast cancer early detection and treatment. Risk factors for breast cancer include increasing age, race, menarche history, breast characteristics, reproductive patterns, hormone use, alcohol use, tobacco use, diet, physical activity, and body habitus...
2017: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29091556/olaparib-for-metastatic-germline-brca-mutated-breast-cancer
#20
LETTER
Mark Robson, Carsten Goessl, Susan Domchek
New England Journal of Medicine, Volume 377, Issue 18, Page 1792-1793, November 2017.
November 2, 2017: New England Journal of Medicine
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