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BRCA 1

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https://www.readbyqxmd.com/read/29782359/brca1-mutations-associated-with-increased-risk-of-brain-metastases-in-breast-cancer-a-1-2-matched-pair-analysis
#1
Peter J Zavitsanos, David E Wazer, Jaroslaw T Hepel, Yihong Wang, Kamaljeet Singh, Kara L Leonard
BACKGROUND: Brain metastases (BM) occur in ∼5% of breast cancer patients. BRCA1-associated cancers are often basal-like and basal-like cancers are known to have a predilection for central nervous system metastases. We performed a matched-pair analysis of breast cancer patients with and without BRCA mutations and compared the frequency of BM in both groups. MATERIALS AND METHODS: From a database of 1935 patients treated for localized breast cancer at our institution from 2009 to 2014 we identified 20 patients with BRCA1 or BRCA2 mutations and manually matched 40 patients without BRCA mutations accounting for age, stage, estrogen receptor expression, and human epidermal growth factor receptor 2 (HER2) expression...
May 18, 2018: American Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29781860/utility-of-immunohistochemistry-in-distinguishing-primary-adnexal-carcinoma-from-metastatic-breast-carcinoma-to-skin-and-squamous-cell-carcinoma
#2
Aida Valencia-Guerrero, Karen Dresser, Kristine M Cornejo
The distinction between primary adnexal carcinoma (PAC) from metastatic breast carcinoma (BrCa) to skin and squamous cell carcinoma (SCC), particularly those with ductal differentiation (SCCDD), can be quite challenging, despite adequate history. The aim of the study was to determine the utility of an immunohistochemistry (IHC) panel to differentiate these entities and apply them to ambiguous tumors. Twenty-seven PAC, 7 metastatic BrCa, 28 SCC, and 16 ambiguous cases (SCCDD vs. PAC, n = 13 and metastatic BrCa vs...
June 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29778233/female-specific-association-among-i-j-and-k-mitochondrial-genetic-haplogroups-and-cancer-a-longitudinal-cohort-study
#3
Claudio Luchini, Alessia Nottegar, Alberto Vaona, Brendon Stubbs, Jacopo Demurtas, Stefania Maggi, Nicola Veronese
Recent studies highlighted the role of mitochondrial dysregulation in cancer, suggesting that the different mitochondrial haplogroups might play a role in tumorigenesis and risk of cancer development. Our aim is to investigate whether any mitochondrial haplogroups carried a significant higher risk of cancer development in a large prospective cohort of North American people. The haplogroup assignment was performed by a combination of sequencing and PCR-RFLP techniques. Our specific outcome of interest was the incidence of any cancer during follow-up period...
August 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29774317/frequency-of-rearrangements-versus-small-indels-mutations-in-brca1-and-brca2-genes-in-turkish-patients-with-high-risk-breast-and-ovarian-cancer
#4
Hülya Yazıcı, Seda Kılıç, Demet Akdeniz, Özge Şükrüoğlu, Şeref Buğra Tuncer, Mukaddes Avşar, Gözde Kuru, Betül Çelik, Seden Küçücük, Pınar Saip
Objective: The current rearrangement ratio of BRCA1 and BRCA2 genes is not known in the Turkish population. Rearrangements are not routinely investigated in many Turkish laboratories. This creates problems and contradictions between clinics. Therefore, the aim of this study was to evaluate the distribution and frequency of rearrangements in BRCA1 and BRCA2 genes in high-risk families and to clarify the limits of BRCA1 and BRCA2 testing in Turkey. Materials and Methods: The study included 1809 patients at high risk of breast cancer or ovarian cancer...
April 2018: European Journal of Breast Health
https://www.readbyqxmd.com/read/29743035/mammographic-density-changes-in-surgical-weight-loss-an-indication-for-personalized-screening
#5
Natalia Partain, Ali Mokdad, Nancy Puzziferri, Jessica Porembka, Stephen Seiler, Alana Christie, Deborah Farr, Aeisha Rivers, A Marilyn Leitch, Rachel Wooldridge, James Huth, Roshni Rao
BACKGROUND: Obesity and high radiologic breast density independently increase breast cancer risk. We evaluated the effect of surgical weight loss on mammographic density (MD). METHODS: Patients undergoing bariatric surgery and screening mammography (MG) were identified, data regarding demographics, comorbidities, calculated and genetic breast cancer risk was collected. Patients had a MG before and after surgery. Fellowship-trained breast radiologists assigned Breast Imaging Reporting and Data System density categories...
May 9, 2018: BMC Medical Imaging
https://www.readbyqxmd.com/read/29737473/uptake-of-brca-1-2-and-oncotype-dx-testing-by-medical-and-surgical-oncologists
#6
Yonina R Murciano-Goroff, Anne Marie McCarthy, Mirar N Bristol, Peter Groeneveld, Susan M Domchek, U Nkiru Motanya, Katrina Armstrong
PURPOSE: The diffusion of genomic testing is critical to the success of precision medicine, but there is limited information on oncologists' uptake of genetic technology. We aimed to assess the frequency with which medical oncologists and surgeons order BRCA 1/2 and Oncotype DX testing for breast cancer patients. METHODS: We surveyed 732 oncologists and surgeons treating breast cancer patients. Physicians were from Florida, New York, New Jersey, and Pennsylvania, and were listed in the 2010 AMA Masterfile or identified by patients...
May 8, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29737390/radiomics-of-high-grade-serous-ovarian-cancer-association-between-quantitative-ct-features-residual-tumour-and-disease-progression-within-12-months
#7
Stefania Rizzo, Francesca Botta, Sara Raimondi, Daniela Origgi, Valentina Buscarino, Anna Colarieti, Federica Tomao, Giovanni Aletti, Vanna Zanagnolo, Maria Del Grande, Nicoletta Colombo, Massimo Bellomi
OBJECTIVES: To determine if radiomic features, alone or combined with clinical data, are associated with residual tumour (RT) at surgery, and predict the risk of disease progression within 12 months (PD12) in ovarian cancer (OC) patients. METHODS: This retrospective study enrolled 101 patients according to the following inclusion parameters: cytoreductive surgery performed at our institution (9 May 2007-23 February 2016), assessment of BRCA mutational status, preoperative CT available...
May 8, 2018: European Radiology
https://www.readbyqxmd.com/read/29733524/safety-and-pharmacokinetics-of-veliparib-extended-release-in-patients-with-advanced-solid-tumors-a-phase-i-study
#8
Theresa L Werner, Jasgit Sachdev, Elizabeth M Swisher, Martin Gutierrez, Muaiad Kittaneh, Mark N Stein, Hao Xiong, Martin Dunbar, Danielle Sullivan, Philip Komarnitsky, Mark McKee, Antoinette R Tan
The poly(ADP-ribose) polymerase-1/2 inhibitor veliparib is active against tumors deficient in homologous DNA damage repair. The pharmacokinetics and safety of veliparib extended-release (ER) were evaluated in patients with advanced solid tumors. This phase I study assessed veliparib-ER up to 800 mg once daily or 600 mg twice daily. Dose-limiting toxicities (DLTs), recommended phase II dose (RP2D), and maximum tolerated dose (MTD) were assessed in cycle 1 and safety/tolerability during continuous administration (28-day cycles)...
May 7, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29731958/main-implications-related-to-the-switch-to-brca-1-2-tumor-testing-in-ovarian-cancer-patients-a-proposal-of-a-consensus
#9
Ettore Capoluongo, Giovanni Scambia, Jean-Marc Nabholtz
Background: Since the approval of the first poly (adenosine diphosphate [ADP]) ribose polymerase inhibitor (PARPi; olaparib [Lynparza™]) for platinum-sensitive relapsed high grade ovarian cancer, with either germline or somatic BRCA1/2 deleterious variants, the strategies for BRCA1/2 are dynamically changing. Along with germline testing within the context of familial or sporadic ovarian cancer, patients are now being referred for BRCA1/2 genetic assay above all for treatment decisions: in this setting tumour BRCA assay can allow to identify an estimated 3-9% of patients with peculiar somatic BRCA1/2 mutations...
April 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29730979/economic-impact-of-olaparib-on-maintenance-treatment-of-patients-with-brca-mutation-positive-platinum-sensitive-relapsing-high-grade-serous-epithelial-ovarian-cancer-in-spain
#10
Laura Delgado-Ortega, Jordi Ginés Rubió, Maria Del Carmen Garcías de España, David Carcedo, Luis Cordero Puentes, Carlota Moya de Alarcón
OBJECTIVE: To estimate the economic impact of the introduction of olaparib in  the Spanish National Health System as maintenance monotherapy in patients  with BRCA-mutation positive high-grade serous ovarian cancer. METHOD: A budget impact model was developed from the Spanish NHS perspective and a time horizon of 5 years for four treatment lines. The model included prevalent and incident patients estimated according to Spanish epidemiological data. Patients moved between treatment lines according to the progression-free survival and overall survival curves  obtained from the respective clinical trials...
May 1, 2018: Farmacia Hospitalaria
https://www.readbyqxmd.com/read/29725888/brca-mutations-and-their-influence-on-pathological-complete-response-and-prognosis-in-a-clinical-cohort-of-neoadjuvantly-treated-breast-cancer-patients
#11
Marius Wunderle, Paul Gass, Lothar Häberle, Vivien M Flesch, Claudia Rauh, Mayada R Bani, Carolin C Hack, Michael G Schrauder, Sebastian M Jud, Julius Emons, Ramona Erber, Arif B Ekici, Juliane Hoyer, Georgia Vasileiou, Cornelia Kraus, Andre Reis, Arndt Hartmann, Michael P Lux, Matthias W Beckmann, Peter A Fasching, Alexander Hein
PURPOSE: BRCA1/2 mutations influence the molecular characteristics and the effects of systemic treatment of breast cancer. This study investigates the impact of germline BRCA1/2 mutations on pathological complete response and prognosis in patients receiving neoadjuvant systemic chemotherapy. METHODS: Breast cancer patients were tested for a BRCA1/2 mutation in clinical routine work and were treated with anthracycline-based or platinum-based neoadjuvant chemotherapy between 1997 and 2015...
May 3, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29713993/influences-on-satisfaction-with-reconstructed-breasts-and-intimacy-in-younger-women-following-bilateral-prophylactic-mastectomy-a-qualitative-analysis
#12
Rachael Glassey, Moira O'Connor, Angela Ives, Christobel Saunders, Sarah J Hardcastle
PURPOSE: The aim of this study was to explore the influences on satisfaction with reconstructed breasts and intimacy following bilateral prophylactic mastectomy (BPM) in younger women (< 35) with a strong family history of breast cancer. METHODS: Twenty-six women who had undergone BPM between 1 and6 years ago were recruited from New Zealand and Australia through a genetics clinic, registry, research cohort, and online (Mage  = 31). Twenty-three were BRCA mutation carriers...
April 30, 2018: International Journal of Behavioral Medicine
https://www.readbyqxmd.com/read/29698926/outcomes-of-systemic-therapy-for-advanced-triple-negative-breast-cancer-a-single-centre-experience
#13
Nicolò Matteo Luca Battisti, David Okonji, Thubeena Manickavasagar, Kabir Mohammed, Mark Allen, Alistair Ring
BACKGROUND: Prognosis is worse for advanced triple-negative breast cancer (aTNBC) compared to other disease subtypes. Trials describe treatment outcomes in single specified lines of therapy; but few data describe treatment outcomes across the whole treatment pathway, which is critical in determining when patients should be referred for trials and to inform discussion. We evaluated treatment outcomes for aTNBC (overall response rate [ORR], median progression-free survival [mPFS] and median overall survival [mOS]) in patients treated largely outside of clinical trials...
April 23, 2018: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/29698810/molecularly-imprinted-polymers-based-electrochemical-dna-biosensor-for-the-determination-of-brca-1-amplified-by-sio-2-ag
#14
Min You, Shuai Yang, Wanxin Tang, Fan Zhang, Pingang He
A novel electrochemical DNA (E-DNA) biosensing strategy was designed and used for the detection of breast cancer susceptibility gene (BRCA-1). The biosensor was based on gold nanoparticles-reduced graphene oxide (AuNPs-GO) modified glass carbon electrode (GCE) covered with the layer of molecularly imprinted polymers (MIPs) synthesized with rhodamine B (RhB) as template, methacrylic acid (MAA) as the monomer, and Nafion as additive. The signal amplification tracing tag SiO2 @Ag NPs were prepared by covering AgNPs on the surface of SiO2 nanoparticles in situ, and then DNA probes were modified on AgNPs by Ag-S bond, forming the composites SiO2 @Ag/DNA...
April 18, 2018: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/29691126/outcome-and-prognostic-impact-of-surgical-staging-in-serous-tubal-intraepithelial-carcinoma-a-cohort-study-and-systematic-review
#15
N M A Van der Hoeven, K Van Wijk, S E Bonfrer, J J Beltman, L A Louwe, C D De Kroon, C J Van Asperen, K N Gaarenstroom
The optimal management of breast cancer susceptibility gene (BRCA)1/2 carriers with isolated serous tubal intraepithelial carcinoma (STIC) found at risk-reducing salpingo-oophorectomy (RRSO) is unclear. The prevalence of occult carcinoma and STIC in a consecutive series of BRCA1/2 carriers undergoing RRSO is reported. The outcome of staging procedures in BRCA1/2 carriers with isolated STIC at RRSO as well as the relationship between staging, chemotherapy treatment and risk of recurrence was assessed via a systematic review of the literature...
April 21, 2018: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/29673794/difference-in-risk-of-breast-and-ovarian-cancer-according-to-putative-functional-domain-regions-in-korean-brca1-2-mutation-carriers
#16
Ji Soo Park, Seung-Tae Lee, Jung Woo Han, Tae Il Kim, Eun Ji Nam, Hyung Seok Park
INTRODUCTION: We investigated the relative risk of breast and ovarian cancers related to the putative functional domain regions, obesity, and parity among Korean BRCA1/2 mutation carriers. PATIENTS AND METHODS: We analyzed the clinical characteristics, cancer history, and mutations according to the putative functional domain of BRCA proteins among 229 women with BRCA1/2 mutations who were treated at Yonsei Cancer Center, Severance Hospital between January 2009 and March 2017...
February 20, 2018: Clinical Breast Cancer
https://www.readbyqxmd.com/read/29662617/premature-ovarian-aging-in-brca-carriers-a-prototype-of-systemic-precocious-aging
#17
Irit Ben-Aharon, Mattan Levi, David Margel, Rinat Yerushalmi, Shulamith Rizel, Shlomit Perry, Eran Sharon, Noa Hasky, Ronit Abir, Benny Fisch, Ana Tobar, Ruth Shalgi, Salomon Marcello Stemmer
Purpose: Though former evidence implies a correlation of breast cancer susceptibility gene ( BRCA ) mutation with reduced ovarian reserve, the data is yet inconsistent. Our aim was to investigate biomarkers of ovarian aging in a cohort of young healthy carriers of the BRCA mutation. We hypothesized that the role played by BRCA genes in aging pathways is not exclusive to the ovary. Experimental Design: Healthy female BRCA carriers, 40 years or younger and healthy male BRCA carriers, 50 years or younger, were enrolled in the study...
March 23, 2018: Oncotarget
https://www.readbyqxmd.com/read/29660759/parp-inhibitors-in-breast-cancer-bringing-synthetic-lethality-to-the-bedside
#18
REVIEW
Anita A Turk, Kari B Wisinski
Individuals with breast and ovarian cancer susceptibility gene 1 (BRCA1) or BRCA2 germline mutations have a significantly increased lifetime risk for breast and ovarian cancers. BRCA-mutant cancer cells have abnormal homologous recombination (HR) repair of DNA. In these tumors, the base excision repair (BER) pathway is important for cell survival. The poly(adenosine diphosphate-ribose) polymerase (PARP) enzymes play a key role in BER, and PARP inhibitors are effective in causing cell death in BRCA-mutant cells while sparing normal cells-a concept called synthetic lethality...
April 16, 2018: Cancer
https://www.readbyqxmd.com/read/29650751/fda-approval-summary-niraparib-for-the-maintenance-treatment-of-patients-with-recurrent-ovarian-cancer-in-response-to-platinum-based-chemotherapy
#19
Gwynn Ison, Lynn J Howie, Laleh Amiri-Kordestani, Lijun Zhang, Shenghui Tang, Rajeshwari Sridhara, Vadryn Pierre, Rosane Charlab, Anuradha Ramamoorthy, Pengfei Song, Fang Li, Jingyu Yu, Wimolnut Manheng, Todd R Palmby, Soma Ghosh, Hisani N Horne, Eunice Y Lee, Reena Philip, Kaushalkumar Dave, Xiao Hong Chen, Sharon L Kelly, Kumar G Janoria, Anamitro Banerjee, Okponanabofa Eradiri, Jeannette Dinin, Kirsten B Goldberg, William F Pierce, Amna Ibrahim, Paul G Kluetz, Gideon M Blumenthal, Julia A Beaver, Richard Pazdur
The Food and Drug Administration approved niraparib, a poly ADP ribose polymerase (PARP) inhibitor, on March 27, 2017, for maintenance treatment of patients with recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer who are in response to platinum-based chemotherapy. Approval was based on data from the NOVA trial comparing niraparib with placebo in two independent cohorts, based on germline BRCA mutation status (gBRCAm vs. non-gBRCAm). Progression-free survival (PFS) in each cohort was the primary endpoint...
April 12, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29644378/a-simple-and-ultrasensitive-fluorescence-assay-for-single-nucleotide-polymorphism
#20
Qian Ma, Zhiqiang Gao
In this report, a simple, label-free and highly efficient nucleic acid amplification technique is developed for ultrasensitive detection of single-nucleotide polymorphism (SNP). Briefly, a designed padlock probe is first circularized by a DNA ligase when it perfectly complements to a mutant gene. Then, the mutant gene functions as a primer to initiate branched rolling circle amplification reaction (BRCA), generating a large number of branched DNA strands and a lot of pyrophosphate molecules which is equivalent to the number of nucleotides consumed...
April 12, 2018: Analytical and Bioanalytical Chemistry
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