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https://www.readbyqxmd.com/read/28631178/recent-insights-into-the-molecular-basis-of-fanconi-anemia-genes-modifiers-and-drivers
#1
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
https://www.readbyqxmd.com/read/28627138/predictors-of-brca1-2-genetic-testing-among-black-women-with-breast-cancer-a-population-based-study
#2
Tarsha Jones, Anne Marie McCarthy, Younji Kim, Katrina Armstrong
Evidence shows that Black women diagnosed with breast cancer are substantially less likely to undergo BRCA testing and other multipanel genetic testing compared to White women, despite having a higher incidence of early-age onset breast cancer and triple-negative breast cancer (TNBC). Our study identifies predictors of BRCA testing among Black women treated for breast cancer and examines differences between BRCA testers and nontesters. We conducted an analysis of 945 Black women ages 18-64 diagnosed with localized or regional-stage invasive breast cancer in Pennsylvania and Florida between 2007 and 2009...
June 19, 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28617445/acquired-cross-linker-resistance-associated-with-a-novel-spliced-brca2-protein-variant-for-molecular-phenotyping-of-brca2-disruption
#3
Stefan Meyer, Adam Stevens, Roberto Paredes, Marion Schneider, Michael J Walker, Andrew J K Williamson, Maria-Belen Gonzalez-Sanchez, Stephanie Smetsers, Vineet Dalal, Hsiang Ying Teng, Daniel J White, Sam Taylor, Joanne Muter, Andrew Pierce, Chiara de Leonibus, Davy A P Rockx, Martin A Rooimans, Elaine Spooncer, Stacey Stauffer, Kajal Biswas, Barbara Godthelp, Josephine Dorsman, Peter E Clayton, Shyam K Sharan, Anthony D Whetton
BRCA2 encodes a protein with a fundamental role in homologous recombination that is essential for normal development. Carrier status of mutations in BRCA2 is associated with familial breast and ovarian cancer, while bi-allelic BRCA2 mutations can cause Fanconi anemia (FA), a cancer predisposition syndrome with cellular cross-linker hypersensitivity. Cancers associated with BRCA2 mutations can acquire chemo-resistance on relapse. We modeled acquired cross-linker resistance with an FA-derived BRCA2-mutated acute myeloid leukemia (AML) platform...
June 15, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28612617/-breast-cancer-in-young-women-correlation-of-clinical-histomorphological-and-molecular-genetic-features-of-breast-carcinoma-in-women-younger-than-35-years-of-age
#4
A Metelková, A Skálová, J Fínek
BACKGROUND: Worldwide, breast cancer is the leading type of malignancy in women. For premenopausal women, the disease brings much higher risk as it is usually more aggressive with worse prognosis. PATIENTS AND METHODS: In this retrospective study, 92 women treated at the Department of Oncology and Radiotherapy in Pilsen were selected from a basic cohort of 356 women under 35 years of age with breast cancer who were diagnosed between 2006 and 2015. The control group comprised 100 postmenopausal women over 65 years of age who were treated for invasive breast cancer...
2017: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/28611537/therapeutic-advances-and-new-directions-for-triple-negative-breast-cancer
#5
REVIEW
Eleni Andreopoulou, Catherine M Kelly, Hayley M McDaid
Triple-negative breast cancer (TNBC) is a molecularly diverse grouping with poor prognosis for which chemotherapy remains the foundation of treatment. The molecular heterogeneity of the disease rationalizes its diverse biological behavior and differential response to treatment. Estimates of up to 20% of patients diagnosed have germline mutations in DNA-damage repair-pathway genes, namely BRCA1 and 2, and this can be used to select patients likely to respond to platinums and/or inhibitors of poly(ADP-ribose) polymerase (PARP)...
March 2017: Breast Care
https://www.readbyqxmd.com/read/28609204/surveillance-of-women-with-the-brca1-or-brca2-mutation-by-using-biannual-automated-breast-us-mr-imaging-and-mammography
#6
Jan C M van Zelst, Roel D M Mus, Gwendolyn Woldringh, Matthieu J C M Rutten, Peter Bult, Suzan Vreemann, Mathijn de Jong, Nico Karssemeijer, Nicoline Hoogerbrugge, Ritse M Mann
Purpose To evaluate a multimodal surveillance regimen including yearly full-field digital (FFD) mammography, dynamic contrast agent-enhanced (DCE) magnetic resonance (MR) imaging, and biannual automated breast (AB) ultrasonography (US) in women with BRCA1 and BRCA2 mutations. Materials and Methods This prospective multicenter trial enrolled 296 carriers of the BRCA mutation (153 BRCA1 and 128 BRCA2 carriers, and 15 women with first-degree untested relatives) between September 2010 and November 2012, with follow-up until November 2015...
June 13, 2017: Radiology
https://www.readbyqxmd.com/read/28606221/dietary-inflammatory-index-before-diagnosis-and-survival-in-an-italian-cohort-of-women-with-breast-cancer
#7
Antonella Zucchetto, Diego Serraino, Nitin Shivappa, James R Hébert, Carmen Stocco, Antonella Puppo, Fabio Falcini, Chiara Panato, Luigino Dal Maso, Jerry Polesel
The dietary inflammatory indexTM (DII) has been shown to correlate with concentrations of several inflammatory markers and a variety of chronic disease endpoints, including cancers of various anatomic sites. We investigated whether the DII was associated with the risk for death among women with breast cancer (BrCa). This retrospective cohort study included 1453 women with BrCa, diagnosed between 1990 and 1994, and previously enrolled in a case-control study in northern Italy. With a median follow-up of 12·6 years, we observed 503 deaths, among which 398 were due to BrCa...
June 13, 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/28605876/e2f8-confers-cisplatin-resistance-to-er-breast-cancer-cells-via-transcriptionally-activating-mastl
#8
Jianjun Tian, Yuting Lin, Jianhua Yu
MASTL (microtubule-associated serine/threonine kinase-like) is a critical kinase modulating mitotic entry. In this study, we investigated the mechanism of its dysregulation in breast cancer and its involvement in cisplatin resistance in ER+ breast cancer cells. Data mining in Kaplan-Meier Plotter showed that high MASTL expression was associated with worse distant metastasis free survival (DMFS) and relapse free survival (RFS) in ER+ breast cancer patients. In TCGA breast cancer cohort (TCGA-BRCA), MASTL was strongly co-upregulated with E2F8...
June 8, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28601786/clinical-outcomes-of-female-breast-cancer-according-to-brca-mutation-status
#9
Deirdre P Cronin-Fenton, Anders Kjærsgaard, Mette Nørgaard, Inge Søkilde Pedersen, Mads Thomassen, James A Kaye, Lia Gutierrez, Claire Telford, Jan Lewis, Jerzy E Tyczynski, Henrik Toft Sørensen
BACKGROUND: To investigate breast cancer prognosis (disease-free (DFS) and overall survival (OS)) among carriers of germline BRCA mutations (BRCAm) in Denmark. METHODS: We identified all women in Central and Northern Denmark diagnosed with breast cancer during 2004-2011. We retrieved information on germline BRCAm testing from Clinical Genetics departments and clinical/treatment characteristics from population-based medical registries. Follow-up for recurrence, new primary cancer, and mortality extended from 180days after diagnosis until 31/12/2012...
June 8, 2017: Cancer Epidemiology
https://www.readbyqxmd.com/read/28583909/olaparib-keeps-hereditary-breast-tumors-in-check
#10
(no author information available yet)
In the phase III OlympiAD study, tumors shrank in about 60% of women with BRCA mutation-associated metastatic breast cancer who received the PARP inhibitor olaparib compared with 29% who received chemotherapy; the median time to disease progression was 7 months compared with 4.2 months, respectively. These findings are the first to demonstrate that a PARP inhibitor can improve progression-free survival in metastatic, hereditary breast cancer.
June 5, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28579430/cry2-is-suppressed-by-foxm1-mediated-promoter-hypermethylation-in-breast-cancer
#11
Lingling Liu, Hong Shen, Yang Wang
Loss of CRY2 confers aggressive phenotypes to breast cancer. However, the mechanism of its downregulation and its prognostic value in breast cancer are still not clear. Our data mining in TCGA breast cancer cohort (TCGA-BRCA) showed that the luminal A subtype of breast cancer had the highest CRY2 expression, while the basal-like subtype had the lowest CRY2 expression. The ER+ group had significantly higher CRY2 expression than the ER- group. Demethylation treatment using 5-AZA-dC significantly restored CRY2 expression in MDA-MB-231 and BT549 cells...
June 2, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28578601/olaparib-for-metastatic-breast-cancer-in-patients-with-a-germline-brca-mutation
#12
Mark Robson, Seock-Ah Im, Elżbieta Senkus, Binghe Xu, Susan M Domchek, Norikazu Masuda, Suzette Delaloge, Wei Li, Nadine Tung, Anne Armstrong, Wenting Wu, Carsten Goessl, Sarah Runswick, Pierfranco Conte
Background Olaparib is an oral poly(adenosine diphosphate-ribose) polymerase inhibitor that has promising antitumor activity in patients with metastatic breast cancer and a germline BRCA mutation. Methods We conducted a randomized, open-label, phase 3 trial in which olaparib monotherapy was compared with standard therapy in patients with a germline BRCA mutation and human epidermal growth factor receptor type 2 (HER2)-negative metastatic breast cancer who had received no more than two previous chemotherapy regimens for metastatic disease...
June 4, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28577564/high-frequency-of-the-recurrent-c-1310_1313delaaga-brca2-mutation-in-the-north-east-of-morocco-and-implication-for-hereditary-breast-ovarian-cancer-prevention-and-control
#13
Fatima-Zahra Laarabi, Ilham Ratbi, Siham Chafai Elalaoui, Loubna Mezzouar, Yassamine Doubaj, Laila Bouguenouch, Karim Ouldim, Noureddine Benjaafar, Abdelaziz Sefiani
BACKGROUND: To date, a limited number of BRCA1/2 germline mutations have been reported in hereditary breast and/or ovarian cancer in the Moroccan population. Less than 20 different mutations of these two genes have been identified in Moroccan patients, and recently we reported a further BRCA2 mutation (c.1310_1313delAAGA; p.Lys437IlefsX22) in three unrelated patients, all from the North-East of the country. We aimed in this study to evaluate the frequency and geographic distribution of this BRCA2 frameshift mutation, in order to access its use as the first-line BRCA genetic testing strategy for Moroccan patients...
June 2, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28569220/brca-promoter-methylation-in-sporadic-versus-brca-germline-mutation-related-breast-cancers
#14
Shoko Vos, Cathy Beatrice Moelans, Paul Joannes van Diest
BACKGROUND: In breast cancer, BRCA promoter hypermethylation and BRCA germline mutations are said to occur together rarely, but this property has not yet been translated into a clinical test. Our aim in this study was to investigate the diagnostic value of BRCA1/2 methylation in distinguishing breast carcinomas of BRCA1 and BRCA2 germline mutation carriers from sporadic breast carcinomas using a recently developed BRCA methylation assay based on methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA)...
May 31, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28559958/hereditary-and-non-hereditary-branches-of-family-eligible-for-brca-test-cancers-in-other-sites
#15
M Digennaro, D Sambiasi, S Tommasi, B Pilato, S Diotaiuti, A Kardhashi, G Trojano, A Tufaro, A V Paradiso
BACKGROUND: The analysis of relationships of BRCA alterations with cancer at sites other than breast/ovary may provide innovative information concerning BRCA pathogenic role and support additional clinical decisions. Aim of this study is to compare presence of cancers in other sites in members of hereditary (H) and not-hereditary (nH) branches of families of patients eligible to BRCA test. METHODS: We retrospectively analyzed the incidence of cancer in other sites in members of 136 families eligible for hereditary breast/ovarian cancer genetic counseling at Centro Studi Tumori Eredo-familiari of our Institute; we compared the frequency of other cancer types in 1156 members of the H-branch with respect to 1062 members of nH-Branch...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28559769/next-generation-sequencing-reveals-a-nonsense-mutation-p-arg364ter-in-mre11a-gene-in-an-indian-patient-with-familial-breast-cancer
#16
Pratibha Sharma Bhai, Deepak Sharma, Renu Saxena, Ishwar C Verma
BACKGROUND: The MRN complex consisting of MRE11A-RAD50-NBS1 proteins is involved in the repair of double-strand breaks, and mutations in genes coding for the MRN complex have been identified in families with breast and ovarian cancer. CASE REPORT: In a BRCA-negative family with positive history of breast and endometrial cancer, next-generation sequencing-based panel testing identified a mutation in the MRE11A gene (NM_005590 c.1090C>T: p.Arg364Ter). This mutation results in a shorter mutated protein lacking 2 DNA binding domains (the GAR domain and the RAD50 binding site), abolishing the function of protein...
May 2017: Breast Care
https://www.readbyqxmd.com/read/28551646/primary-peritoneal-serous-carcinoma-in-men-a-rare-and-non-brca-associated-entity
#17
Susan L Neuhausen, Hagit Shani, Lital Keinan Boker, Linda Steele, Barbara G Silverman, Laura Ottini, Valentina Silvestri, Yael Laitman, Jacob Korach, Tamar Perri, Eitan Friedman
BACKGROUND: Primary peritoneal serous carcinoma (PPSC) is a rare neoplasm. The paucity of reported cases among men may provide insight to the cell of origin of PPSC. MATERIALS AND METHODS: A search for the ICD 0-3 code of PPSC (C48.2) in the following datasets: the Israeli National Cancer registry (INCR), the Surveillance, Epidemiology, and End Results (SEER) database in the USA, Israeli male BRCA carriers, male high-risk and BRCA carriers in a USA study, and the Italian Study on Male Breast Cancer (MBC) were performed...
June 2017: Anticancer Research
https://www.readbyqxmd.com/read/28548905/brca-associated-cancers-role-of-imaging-in-screening-diagnosis-and-management
#18
Michelle V Lee, Venkata S Katabathina, Michyla L Bowerson, Marina I Mityul, Anup S Shetty, Khaled M Elsayes, Aparna Balachandran, Priya R Bhosale, Ann E McCullough, Christine O Menias
Harmful mutations of the BRCA tumor suppressor genes result in a greater lifetime risk for malignancy-breast and ovarian cancers in particular. An increased risk for male breast, fallopian tube, primary peritoneal, pancreatic, prostate, and colon cancers also has been reported. The BRCA gene is inherited in an autosomal dominant pattern and tends to be highly penetrant; thus, there is an increased incidence of these cancers in affected families. Compared with sporadic tumors, BRCA-associated malignancies have unique manifestations, clinical features, and pathologic profiles...
May 26, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28539235/multi-institutional-evaluation-of-women-at-high-risk-of-developing-breast-cancer
#19
David J Hermel, Marie E Wood, Jennifer Chun, Tiffany Rounds, Melissa Sands, Shira Schwartz, Freya R Schnabel
INTRODUCTION: We performed the present study to better understand the practices and preferences of women with an elevated risk of breast cancer by merging the registries from 2 separate institutions and comparing the clinical characteristics and outcomes. MATERIALS AND METHODS: The data from women enrolled in institutional review board-approved registries from 2003 to 2015 at the New York University Langone Medical Center and University of Vermont Medical Center were evaluated...
April 14, 2017: Clinical Breast Cancer
https://www.readbyqxmd.com/read/28536297/androgen-receptor-inhibitor-induced-brcaness-and-parp-inhibition-are-synthetically-lethal-for-castration-resistant-prostate-cancer
#20
Likun Li, Styliani Karanika, Guang Yang, Jiangxiang Wang, Sanghee Park, Bradley M Broom, Ganiraju C Manyam, Wenhui Wu, Yong Luo, Spyridon Basourakos, Jian H Song, Gary E Gallick, Theodoros Karantanos, Dimitrios Korentzelos, Abul Kalam Azad, Jeri Kim, Paul G Corn, Ana M Aparicio, Christopher J Logothetis, Patricia Troncoso, Timothy Heffernan, Carlo Toniatti, Hyun-Sung Lee, Ju-Seog Lee, Xuemei Zuo, Wenjun Chang, Jianhua Yin, Timothy C Thompson
Cancers with loss-of-function mutations in BRCA1 or BRCA2 are deficient in the DNA damage repair pathway called homologous recombination (HR), rendering these cancers exquisitely vulnerable to poly(ADP-ribose) polymerase (PARP) inhibitors. This functional state and therapeutic sensitivity is referred to as "BRCAness" and is most commonly associated with some breast cancer types. Pharmaceutical induction of BRCAness could expand the use of PARP inhibitors to other tumor types. For example, BRCA mutations are present in only ~20% of prostate cancer patients...
May 23, 2017: Science Signaling
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