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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
#1
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/29770616/prevalence-of-germline-brca-mutations-among-women-with-carcinoma-of-the-peritoneum-or-fallopian-tube
#2
Min Chul Choi, Jin Sik Bae, Sang Geun Jung, Hyun Park, Won Duk Joo, Seung Hun Song, Chan Lee, Ji Ho Kim, Ki Chan Lee, Sunghoon Lee, Je Ho Lee
OBJECTIVE: The aim of the present study was to assess the frequency of germline mutations in patients with peritoneal carcinoma (PC) or the fallopian tube carcinoma (FTC), using a multi-gene panel. METHODS: Twenty-six patients diagnosed with either PC or FTC between January 2013 and December 2016 were recruited consecutively. Germline DNA was sequenced using a 6-gene next generation sequencing (NGS) panel following genetic counseling. Surgico-medical information was obtained from hospital records...
March 26, 2018: Journal of Gynecologic Oncology
https://www.readbyqxmd.com/read/29760936/preliminary-molecular-evidence-associating-a-novel-brca1-synonymous-variant-with-hereditary-ovarian-cancer-syndrome
#3
Angelo Minucci, Paola Concolino, Maria De Bonis, Alessandra Costella, Ida Paris, Giovanni Scambia, Ettore Capoluongo
Extensive molecular screening of the BRCA1/2 ( BRCA) genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel BRCA1 synonymous variant discovered in a family with hereditary ovarian cancer (HOC) syndrome. We showed that the BRCA1 c.5073   A  > T variant might play a pathogenic role in HOC syndrome in this family.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29752326/genetic-counseling-referral-rates-in-long-term-survivors-of-triple-negative-breast-cancer
#4
Carlos H Barcenas, Maryam N Shafaee, Arup K Sinha, Akshara Raghavendra, Babita Saigal, Rashmi K Murthy, Ashley H Woodson, Banu Arun
Background: Inherited BRCA gene mutations (pathogenic variants) cause 10% of breast cancers. BRCA pathogenic variants predispose carriers to triple-negative breast cancer (TNBC); around 30% of patients with TNBC carry BRCA pathogenic variants. The 2018 NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian recommend genetic counseling referrals for patients with TNBC diagnosed at age ≤60 years. This study sought to describe genetic counseling referral patterns among long-term TNBC survivors at The University of Texas MD Anderson Cancer Center...
May 2018: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29750868/brca-status-does-not-predict-synergism-of-a-carboplatin-and-olaparib-combination-in-high-grade-serous-ovarian-cancer-cell-lines
#5
Yen Ting Shen, James C Evans, Gaetano Zafarana, Christine Allen, Micheline Piquette-Miller
Over 50% of epithelial ovarian cancers express the BRCAness profile that leads to a dysfunctional homologous recombination repair system. The combination of a dysfunctional homologous recombination repair system and a poly (ADP-ribose) polymerase (PARP) inhibitor results in a synthetic lethal phenotype. The PARP inhibitor olaparib, approved as a monotherapy for patients with a germline BRCA mutation, has shown promising results in preclinical studies when combined with DNA damaging agents such as carboplatin...
May 11, 2018: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/29750420/latest-clinical-evidence-and-further-development-of-parp-inhibitors-in-ovarian-cancer
#6
M R Mirza, S Pignata, J A Ledermann
Background: For several decades, the systemic treatment of ovarian cancer has involved chemotherapy, with the relatively recent addition of anti-angiogenic strategies given with chemotherapy and in the maintenance setting. In the past decade, numerous poly(ADP-ribose) polymerase (PARP)-inhibiting agents have been assessed. Design: We review key trials that have led to the approval of three PARP inhibitors - olaparib, niraparib and rucaparib - as maintenance therapy for platinum-sensitive recurrent ovarian cancer...
May 10, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29747489/different-patterns-of-risk-reducing-decisions-in-affected-or-unaffected-brca-pathogenic-variant-carriers
#7
Eun-Gyeong Lee, Hyok Jo Kang, Myong Cheol Lim, Boyoung Park, Soo Jin Park, So-Youn Jung, Seeyoun Lee, Han-Sung Kang, Sang-Yoon Park, Boram Park, Jungnam Joo, Jai Hong Han, Sun-Young Kong, Eun Sook Lee
Purpose: The purpose of this study was to investigate decision patterns to reduce the risks of BRCA-related breast and gynecologic cancers in carriers of BRCA pathogenic variants. We found a change in risk-reducing (RR) management patterns after December 2012, when the National Health Insurance System (NHIS) of Korea began to pay for BRCA testing and risk-reducing salpingo-oophorectomy (RRSO) in pathogenic-variant carriers. Materials and Methods: The study group consisted of 992 patients, including 705 with breast cancer (BC), 23 with ovarian cancer (OC), 10 with both, and 254 relatives of high-risk patients who underwent BRCA testing at the National Cancer Center of Korea from January 2008 to December 2016...
May 4, 2018: Cancer Research and Treatment: Official Journal of Korean Cancer Association
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
#8
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/29735311/inadequate-rates-of-brca-testing-with-its-negative-consequences-for-women-with-epithelial-ovarian-cancer-and-their-families-an-overview-of-the-literature
#9
P J Hoskins
Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10-30% range...
May 5, 2018: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/29735278/bilateral-salpingectomy-with-delayed-oophorectomy-for-ovarian-cancer-risk-reduction-a-pilot-study-in-women-with-brca1-2-mutations
#10
Denise R Nebgen, Jean Hurteau, Laura L Holman, Andrea Bradford, Mark F Munsell, Beth R Soletsky, Charlotte C Sun, Gary B Chisholm, Karen H Lu
OBJECTIVE: Risk-reducing salpingo-oophorectomy (RRSO) reduces ovarian cancer risk in BRCA1/2 mutation carriers, but the adverse effects of the associated early-onset surgical menopause are problematic. Despite suggestive evidence, no data demonstrate whether bilateral salpingectomy alone lowers the risk of developing ovarian cancer in BRCA mutation carriers. We conducted a pilot study of bilateral salpingectomy with delayed oophorectomy (BS/DO) in BRCA mutation carriers to determine the safety and acceptability of the procedure...
May 4, 2018: Gynecologic Oncology
https://www.readbyqxmd.com/read/29733524/safety-and-pharmacokinetics-of-veliparib-extended-release-in-patients-with-advanced-solid-tumors-a-phase-i-study
#11
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
#12
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
#13
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/29729664/complete-response-to-orally-administered-melphalan-in-malignant-pleural-effusion-from-an-occult-female-genital-organ-primary-neoplasm-with-brca1-2-mutations-a-case-report
#14
Frank S Fan, Chung-Fan Yang
BACKGROUND: Definite diagnosis of metastasis from unknown primary depends on a comprehensive immunohistochemical investigation of tumor specimen. Accurate identification of the origin site usually helps a lot in choosing the most appropriate treatment. Molecular characterization provides more chance of a cure. Echoing modern medical development, BRCA1/2 mutations have been correlated with high efficiency of poly(adenosine diphosphate-ribose) polymerase inhibitors in ovarian cancer. While a previous case report demonstrated a surprising cure of platinum-resistant ovarian cancer with BRCA2 mutation by orally administered melphalan...
May 6, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29682331/-brca-mutation-carrier-detection-a-model-based-cost-effectiveness-analysis-comparing-the-traditional-family-history-approach-and-the-testing-of-all-patients-with-breast-cancer
#15
Jan Norum, Eli Marie Grindedal, Cecilie Heramb, Inga Karsrud, Sarah Louise Ariansen, Dag Erik Undlien, Ellen Schlichting, Lovise Mæhle
Background: Identification of BRCA mutation carriers among patients with breast cancer (BC) involves costs and gains. Testing has been performed according to international guidelines, focusing on family history (FH) of breast and/or ovarian cancer. An alternative is testing all patients with BC employing sequencing of the BRCA genes and Multiplex Ligation Probe Amplification (MLPA). Patients and methods: A model-based cost-effectiveness analysis, employing data from Oslo University Hospital, Ullevål (OUH-U) and a decision tree, was done...
2018: ESMO Open
https://www.readbyqxmd.com/read/29676714/-does-ovarian-cancer-start-in-the-fallopian-tubes-possible-implications-for-preventive-adnexal-removal
#16
M P Steenbeek, J Bulten, N Hoogerbrugge, L F A G Massuger, J M A Pijnenborg, J A de Hullu
BACKGROUND: Recent insights in high-grade serous ovarian cancer development are pointing to the fallopian tubes as likely place of origin and not the ovaries themselves. This may have consequences for patients with increased risk of ovarian cancer. Adnexal removal is currently recommended for this patient group at an age of 35-45, which leads to premature menopause. CASE DESCRIPTION: In a 55-year-old woman with a BRCA1 germ line mutation, a high-grade serous carcinoma was unexpectedly diagnosed in both fallopian tubes during preventive adnexal removal...
2018: Nederlands Tijdschrift Voor Geneeskunde
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
#17
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/29672168/rucaparib-a-new-treatment-option-for-ovarian-cancer
#18
Ilaria Sabatucci, Giuseppa Maltese, Stefano Lepori, Elisa Tripodi, Giorgio Bogani, Domenica Lorusso
Approximately 50% of high-grade serous ovarian cancers present a deficiency in the pathways involved in homologous recombination (HR). PARP inhibitors prevent single-strand DNA damage repair and determine a progression of the defect towards double-strand breaks, which results in a process known as 'synthetic lethality'. Areas covered: In this review, the authors discuss the efficacy and toxicity of rucaparib either as a single agent or as a maintenance treatment for ovarian cancer. This includes the NGS Foundation Medicine evaluation of the role of this drug in the treatment algorithm of ovarian cancer...
April 19, 2018: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/29662617/premature-ovarian-aging-in-brca-carriers-a-prototype-of-systemic-precocious-aging
#19
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
#20
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
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