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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/28628421/high-grade-serous-ovarian-cancer-associations-between-brca-mutation-status-ct-imaging-phenotypes-and-clinical-outcomes
#2
Stephanie Nougaret, Yulia Lakhman, Mithat Gönen, Debra A Goldman, Maura Miccò, Melvin D'Anastasi, Sarah A Johnson, Krishna Juluru, Angela G Arnold, Ramon E Sosa, Robert A Soslow, Hebert Alberto Vargas, Hedvig Hricak, Noah D Kauff, Evis Sala
Purpose To investigate the associations between BRCA mutation status and computed tomography (CT) phenotypes of high-grade serous ovarian cancer (HGSOC) and to evaluate CT indicators of cytoreductive outcome and survival in patients with BRCA-mutant HGSOC and those with BRCA wild-type HGSOC. Materials and Methods This HIPAA-compliant, institutional review board-approved retrospective study included 108 patients (33 with BRCA mutant and 75 with BRCA wild-type HGSOC) who underwent CT before primary debulking...
June 16, 2017: Radiology
https://www.readbyqxmd.com/read/28614062/brca-mutations-in-the-manifestation-and-treatment-of-ovarian-cancer
#3
REVIEW
Zimin Pan, Xing Xie
BRCA genes are important for the integrity and stability of genetic material and play key roles in repairing DNA breaks via high fidelity homologous recombination. BRCA mutations are known to predispose carriers to gynecological malignancies, accounting for a majority of hereditary OC cases. Known to be lethal, OC is difficult to detect and control. Testing for BRCA mutations is a key step in the risk assessment, prognosis, treatment and prevention of OC and current clinical guidelines recommend BRCA mutation testing for all OCs of epithelial origin...
May 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28611537/therapeutic-advances-and-new-directions-for-triple-negative-breast-cancer
#4
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/28578601/olaparib-for-metastatic-breast-cancer-in-patients-with-a-germline-brca-mutation
#5
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/28548905/brca-associated-cancers-role-of-imaging-in-screening-diagnosis-and-management
#6
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
#7
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/28527614/n-o-344-salpingectomie-opportuniste-et-autres-m%C3%A3-thodes-pour-r%C3%A3-duire-le-risque-de-cancer-de-l-ovaire-de-la-trompe-de-fallope-et-du-p%C3%A3-ritoine-dans-la-population-g%C3%A3-n%C3%A3-rale
#8
Shannon Salvador, Stephanie Scott, Julie Ann Francis, Anita Agrawal, Christopher Giede
OBJECTIF: La présente directive clinique examine les avantages potentiels de la salpingectomie opportuniste pour prévenir le développement du cancer séreux de grade élevé de l'ovaire, de la trompe de Fallope et du péritoine à la lumière de données probantes actuelles selon lesquelles ce type de cancer prendrait naissance dans la trompe de Fallope. UTILISATEURS CIBLES: Gynécologues, obstétriciens, médecins de famille, infirmières autorisées, infirmières praticiennes, résidents et fournisseurs de soins de santé...
June 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28527613/no-344-opportunistic-salpingectomy-and-other-methods-of-risk-reduction-for-ovarian-fallopian-tube-peritoneal-cancer-in-the-general-population
#9
Shannon Salvador, Stephanie Scott, Julie Ann Francis, Anita Agrawal, Christopher Giede
OBJECTIVE: This guideline reviews the potential benefits of opportunistic salpingectomy to prevent the development of high grade serous cancers (HGSC) of the ovary/fallopian tube/peritoneum based on current evidence supporting the fallopian tube origin of disease. INTENDED USERS: Gynaecologists, obstetricians, family doctors, registered nurses, nurse practitioners, residents, and health care providers. TARGET POPULATION: Adult women (18 and older): OPTIONS: Women considering hysterectomy who wish to retain their ovaries in situ have traditionally also retained their fallopian tubes...
June 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28527397/mri-surveillance-for-women-with-dense-breasts-and-a-previous-breast-cancer-and-or-high-risk-lesion
#10
Michelle Nadler, Hyder Al-Attar, Ellen Warner, Anne L Martel, Sharmila Balasingham, Liying Zhang, Joseph H Lipton, Belinda Curpen
BACKGROUND: The role of surveillance breast MRI for women with mammographically dense breasts, a personal history of breast cancer (BC), atypical hyperplasia (AH), or lobular carcinoma in situ (LCIS) is unclear. We estimated the performance of annual surveillance MRI in women with a combination of these risk factors. METHODS: We performed a retrospective review of the clinical, radiological, and pathological parameters of women who received annual concurrent surveillance breast MRI and mammography between 04/2013 and 12/2015 and fulfilled all of the following criteria: 1) age <70; 2) prior diagnosis of AH, LCIS or BC; 3) heterogeneously or extremely dense breast(s); and 4) did not qualify for our provincial breast MRI high risk screening program...
May 17, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28508305/recent-advances-in-targeting-dna-repair-pathways-for-the-treatment-of-ovarian-cancer-and-their-clinical-relevance
#11
REVIEW
Katsutoshi Oda, Michihiro Tanikawa, Kenbun Sone, Mayuyo Mori-Uchino, Yutaka Osuga, Tomoyuki Fujii
Poly (ADP-ribose) polymerase (PARP) inhibitors have attracted much attention as one of the major molecular-targeted therapeutics for inhibiting DNA damage response. The PARP inhibitor, olaparib, has been clinically applied for treating certain recurrent ovarian cancer patients with BRCA1/2 mutations in Europe and the United States. It was also designated on 24 March 2017 as an orphan drug in Japan for similar clinical indications. In this review, we discuss (i) the prevalence of BRCA1/2 mutations in ovarian cancer, (ii) clinical trials of PARP inhibitors in ovarian cancer, (iii) genetic counseling for hereditary breast and ovarian cancer patients, and (iv) non-BRCA genes that may be associated with homologous recombination deficiency...
May 15, 2017: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28504572/screening-mammography-for-women-in-their-40s-the-potential-impact-of-the-american-cancer-society-and-u-s-preventive-services-task-force-breast-cancer-screening-recommendations
#12
Jenifer A Pitman, Geraldine B McGinty, Rohan R Soman, Michele B Drotman, Melissa B Reichman, Elizabeth Kagan Arleo
OBJECTIVE: The purpose of this study was to review screening mammograms obtained in one practice with the primary endpoint of determining the rate of detection of breast cancer and associated prognostic features in women 40-44 and 45-49 years old. MATERIALS AND METHODS: The retrospective cohort study included women in their 40s with breast cancer detected at screening from June 2014 through May 2016. The focus was on cancer detection rate, pathologic findings, and risk factors...
May 15, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28495237/multigene-panels-in-ashkenazi-jewish-patients-yield-high-rates-of-actionable-mutations-in-multiple-non-brca-cancer-associated-genes
#13
Melissa K Frey, Gabriella Sandler, Rachel Sobolev, Sarah H Kim, Rachelle Chambers, Rebecca Y Bassett, Jessica Martineau, Katherine J Sapra, Leslie Boyd, John P Curtin, Bhavana Pothuri, Stephanie V Blank
OBJECTIVE: To evaluate the results of multigene panel testing among Ashkenazi Jewish compared with non-Ashkenazi Jewish patients. METHODS: We reviewed the medical records for all patients who underwent multigene panel testing and targeted BRCA1/2 testing at a single institution between 6/2013-1/2015. Clinical actionability for identified pathogenic mutations was characterized based on the National Comprehensive Cancer Network (NCCN) guidelines and consensus statements and expert opinion for genes not addressed by these guidelines...
May 8, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28494179/predictive-biomarkers-for-triple-negative-breast-cancer-treated-with-platinum-based-chemotherapy
#14
Juan Jin, Wenwen Zhang, Wenfei Ji, Fang Yang, Xiaoxiang Guan
Treatment of triple negative breast cancer (TNBC) has been a big challenge since it is defined. To date, platinum-based chemotherapy has played a significant role in the treatment of TNBC patients. However, some patients do not respond to platinum salts or gradually develop chemoresistance, resulting in little effect, or even some adverse effects. Here, we review numerous preclinical and clinical investigations to summarize possible mechanisms and potential predictive biomarkers of platinum in TNBC. The homologous recombination deficiency (HRD) resulting from the loss of BRCA function is the main rationale of platinum efficacy in TNBC...
May 11, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/28488580/germline-mutations-in-pancreatic-cancer-and-potential-new-therapeutic-options
#15
REVIEW
Rille Pihlak, Juan W Valle, Mairéad G McNamara
Due to short-lived treatment responses in unresectable disease, pancreatic ductal adenocarcinoma (PDAC) continues to be one of the deadliest cancers. There is availability of new information about germline and sporadic mutations in the deoxyribonucleic acid (DNA) damage repair pathway in PDAC in recent decades and the expectation is that novel targeted therapies will thus be developed. A variety of germline mutations (BRCA2, BRCA1, PALB2, CDKN2A, ATM, TP53 and mismatch repair genes MLH1, MSH2, MSH6) have been reported in these patients with the highest prevalence being BRCA1/2...
April 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28474297/niraparib-first-global-approval
#16
Lesley J Scott
Oral niraparib, a highly-selective, potent poly(ADP-ribose) polymerase (PARP)-1 and PARP-2 inhibitor, is approved in the USA for the maintenance treatment of adult patients with recurrent epithelial ovarian, fallopian tube or primary peritoneal cancer who are in a complete or partial response to platinum-based chemotherapy. It is also under regulatory review in the EU for use in maintenance treatment in patients with platinum-sensitive, recurrent epithelial ovarian cancer who are in response to platinum-based chemotherapy...
June 2017: Drugs
https://www.readbyqxmd.com/read/28471621/automated-breast-volumetric-sonography-compared-with-magnetic-resonance-imaging-in-jewish-brca-1-2-mutation-carriers
#17
Osnat Halshtok Neiman, Zippy Erlich, Eitan Friedman, Arie Rundstein, Anat Shalmon, Yael Servadio, Miri Sklair Levy
BACKGROUND: Automated breast volumetric sonography (ABVS) is a new technology with various possible applications. OBJECTIVES: To compare ABVS and breast magnetic resonance imaging (MRI) in the surveillance of women with BRCA1/2 gene mutation carriers. METHODS: We conducted a prospective study in Jewish female BRCA1/2 mutation carriers who underwent breast MRI and ABVS. The results of both exams performed 6 months apart or less, and relevant clinical data, were reviewed...
October 2016: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28471247/the-safety-of-antiangiogenic-agents-and-parp-inhibitors-in-platinum-sensitive-recurrent-ovarian-cancer
#18
REVIEW
Domenica Lorusso, Caterina Fontanella, Giuseppa Maltese, Stefano Lepori, Elisa Tripodi, Giorgio Bogani, Francesco Raspagliesi
Recurrence is a common event in endothelial ovarian cancer (EOC) patients, and the choice of the most appropriate treatment is driven by the platinum-free interval, molecular characteristics of the disease such as BRCA mutational status, previous treatments and toxicity. Areas covered: This review focuses on the main hematologic and non-hematologic toxicities correlated with the use of licensed antiangiogenic agents and PARP inhibitors in recurrent platinum-sensitive EOC, providing recommendations for their management...
June 2017: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/28469042/systemic-treatment-strategies-for-patients-with-hereditary-breast-cancer-syndromes
#19
Amanda Parkes, Banu K Arun, Jennifer K Litton
Hereditary breast cancer syndromes are associated with an increased risk of breast cancer and constitute a unique patient population, making up approximately 5%-10% of breast cancer cases in the United States. By virtue of the germline mutations that define these syndromes, invasive breast cancers in these patients have unique mechanisms that can be rationally targeted for therapeutic opportunities distinct from standard of care treatments in nongermline mutation associated breast cancers. This review intends to describe existing data on several of the most common hereditary breast cancer syndromes, including BRCA-related breast cancer syndrome, Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers syndrome, and hereditary diffuse gastric cancer syndrome, specifically focusing on rational therapeutics utilized in these distinct patient subgroups and completed or ongoing clinical trials evaluating their efficacy...
May 3, 2017: Oncologist
https://www.readbyqxmd.com/read/28467918/higher-antitumor-activity-of-trabectedin-in-germline-brca2-carriers-with-advanced-breast-cancer-as-compared-to-brca1-carriers-a-subset-analysis-of-a-dedicated-phase-ii-trial
#20
Amal Ghouadni, Suzette Delaloge, Pilar Lardelli, Carmen Kahatt, Tomasz Byrski, Joanne L Blum, Anthony Gonçalves, Mario Campone, Antonio Nieto, Vicente Alfaro, Martin Cullell-Young, Jan Lubinski
Specific alkylators may allow synthetic lethality among patients with germline BRCA1/2-mutations related cancers. The tetrahydroisoquinolone trabectedin administered at 1.3 mg/m(2) as a 3-h intravenous infusion every 3 weeks showed activity in patients with pretreated metastatic breast cancer (MBC) and BRCA germline mutations, but mainly in BRCA2 carriers. Data from a phase II study were retrospectively analyzed to compare the efficacy and safety of this trabectedin dose and schedule in pretreated MBC patients bearing germline BRCA1/2 mutations...
April 30, 2017: Breast: Official Journal of the European Society of Mastology
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