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https://www.readbyqxmd.com/read/29433453/male-brca-mutation-carriers-clinical-characteristics-and-cancer-spectrum
#1
Mohammed Ibrahim, Siddhartha Yadav, Foluso Ogunleye, Dana Zakalik
BACKGROUND: Mutations in BRCA1 and BRCA2 (BRCA1/2) genes are associated with an increased risk of breast and ovarian cancers in women. The cancer characteristics of men with BRCA1/2 mutations are less well studied. This study describes the unique cancer characteristics of male BRCA1/2 mutation carriers at our institution. METHODS: We performed a retrospective chart review on male patients who were seen between January 2004 and December 2014 and tested positive for a BRCA1/2 mutation...
February 13, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29428039/rationale-for-mastectomy-after-neoadjuvant-chemotherapy
#2
Lejla Hadzikadic Gusic, Kendall Walsh, Teresa Flippo-Morton, Terry Sarantou, Danielle Boselli, Richard L White
Neoadjuvant chemotherapy (NAC) reduces tumor size, facilitating the use of breast conservation surgery (BCS). However, mastectomy remains the surgical outcome for certain women. The goal of this study was to determine the rationale for mastectomy after NAC, particularly in women eligible for BCS. Retrospective data were reviewed on patients who received NAC between February 2006 and August 2010 at our institution. Demographics and tumor characteristics were compared between patients who received BCS and mastectomy after NAC...
January 1, 2018: American Surgeon
https://www.readbyqxmd.com/read/29409476/germline-brca1-brca2-mutations-among-high-risk-breast-cancer-patients-in-jordan
#3
Hikmat Abdel-Razeq, Amal Al-Omari, Farah Zahran, Banu Arun
BACKGROUND: Breast cancer is the most common malignancy and the leading cause of cancer-related deaths among Jordanian women. With a median age of 50 years at diagnosis, a higher prevalence of hereditary breast cancer may be expected. The objective of this pilot study is to evaluate, for the first time, the contribution of germline mutations in BRCA1/2 to breast cancer among Jordanian patients. METHODS: Jordanian breast cancer women with a selected high risk profile were invited to participate...
February 6, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29402697/impact-of-brca-mutation-status-on-survival-of-women-with-triple-negative-breast-cancer
#4
Siddhartha Yadav, Rand Ladkany, Dhiraj Yadav, Omar Alhalabi, Sinan Khaddam, Daniel Isaac, Paola Yumpo Cardenas, Dana Zakalik
INTRODUCTION: The effect of germline BRCA mutations on the outcomes of patients with triple-negative breast cancer (TNBC) is not well understood. MATERIALS AND METHODS: The present retrospective study included women with newly diagnosed TNBC from January 1, 2004 to December 30, 2013. The demographic and tumor characteristics, genetic testing results, and outcomes were collected by a review of the patients' medical records. The outcomes were compared between the BRCA+ and BRCA- women...
December 30, 2017: Clinical Breast Cancer
https://www.readbyqxmd.com/read/29323669/cost-effectiveness-and-comparative-effectiveness-of-cancer-risk-management-strategies-in-brca1-2-mutation-carriers-a-systematic-review
#5
Lara Petelin, Alison H Trainer, Gillian Mitchell, Danny Liew, Paul A James
PurposeTo review the evidence for the effectiveness and cost-effectiveness of cancer risk management interventions for BRCA carriers.MethodsComparative effectiveness and cost-effectiveness analyses were identified by searching scientific and health economic databases. Eligible studies modeled the impact of a cancer risk management intervention in BRCA carriers on life expectancy (LE), cancer incidence, or quality-adjusted life years (QALYs), with or without costs.ResultsTwenty-six economic evaluations and eight comparative effectiveness analyses were included...
January 11, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29313444/poly-adp-ribose-polymerase-inhibitors-in-the-management-of-ovarian-cancer
#6
Maurie Markman
There is considerable interest and enthusiasm within the clinical gynecologic oncology community regarding the potential for poly (ADP-ribose) polymerase inhibitors to play a critically relevant role in the management of epithelial ovarian cancer and particularly (although not exclusively) in the setting of known mutations in the BRCA gene. This review will briefly highlight the biological rational for the use of poly (ADP-ribose) polymerase inhibitors in this malignancy, followed by summary of currently available clinical data supporting the delivery of agents approved by the US Food and Drug Administration for non-investigative use...
January 2018: Women's Health
https://www.readbyqxmd.com/read/29307397/brca-mutations-and-reproduction
#7
REVIEW
Hagit Daum, Tamar Peretz, Neri Laufer
Deleterious mutations in BRCA1 or BRCA2 genes have long been recognized as independent risk factors, mostly for breast and ovarian cancer. Numerous studies have evaluated the molecular processes involving these genes, the pathophysiology of BRCAness, follow up options and modes of prophylaxis. The fertility of BRCA carriers, however, has not been widely investigated. The aim of the present work is to review the literature pertaining to this issue.
January 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29287289/-current-german-and-american-guidelines-for-autologous-fat-grafting-a-transatlantic-comparison
#8
G Felix Broelsch, Sören Könneker, Ramin Ipaktchi, Peter M Vogt
CLINICAL PROBLEM: The renewed clinical interest in fat grafting for both reconstructive and aesthetic purposes prompted the American Society of Plastic Surgeons to establish a Fat Graft Task Force (AFGT) in 2009. Moreover, in 2015, the German Society of Plastic, Reconstructive and Aesthetic Surgeons (DGPRÄC), in cooperation with three relevant medical societies (DDG, DGMKG, DGGG), formulated statements on the provision of strategies for patient management and to guide physicians in clinical decision making, on the basis of the scientific literature, clinical experience and current laws...
December 2017: Handchirurgie, Mikrochirurgie, Plastische Chirurgie
https://www.readbyqxmd.com/read/29260919/the-development-of-parp-as-a-successful-target-for-cancer-therapy
#9
Roberto Ferrara, Francesca Simionato, Chiara Ciccarese, Elisabetta Grego, Sara Cingarlini, Roberto Iacovelli, Emilio Bria, Giampaolo Tortora, Davide Melisi
PARP1 and BRCA genes are essential genome caretakers and their interaction has been the first example of synthetic lethality, a genetic concept proposed in the early 20th century, but deeply explored in cancer patients only in the last decade. Areas covered: This review describes PARP1 and BRCA main functions and different roles in genome protection. Furthermore, an overview of the principle mechanisms of action and resistance to PARP inhibitors (PARPi) is presented. This review illustrates the concept of BRCAness, and how this discovery has broadened the routes of PARPi to several different malignancies such as ovarian, breast and prostate cancer...
December 20, 2017: Expert Review of Anticancer Therapy
https://www.readbyqxmd.com/read/29259370/pancreatic-acinar-cell-carcinoma-a-review-on-molecular-profiling-of-patient-tumors
#10
REVIEW
Ahmad Al-Hader, Rami N Al-Rohil, Haiyong Han, Daniel Von Hoff
Pancreatic carcinomas with acinar differentiation are rare, accounting for 1%-2% of adult pancreatic tumors; they include pancreatic acinar cell carcinoma (PACC), pancreatoblastoma, and carcinomas of mixed differentiation. Patients with PACC have a prognosis better than pancreatic ductal adenocarcinomas but worse than pancreatic neuroendocrine tumors. Reports of overall survival range from 18 to 47 mo. A literature review on PACCs included comprehensive genomic profiling and whole exome sequencing on a series of more than 70 patients as well as other diagnostic studies including immunohistochemistry...
December 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29251678/novel-poly-adp-ribose-polymerase-inhibitor-combination-strategies-in-ovarian-cancer
#11
Kelly E McCann
PURPOSE OF REVIEW: The recent United States Food and Drug Administration approvals of niraparib and olaparib as maintenance monotherapy for platinum-sensitive, high-grade ovarian cancers independent of BRCA status reflect a willingness to seek indications for poly-ADP-ribose polymerase (PARP) inhibitors beyond cancers with deleterious breast cancer 1 and breast cancer 2 mutations. In this review, I describe the rationale behind current PARP combination clinical trials with chemotherapies, angiogenesis inhibitors, cell cycle checkpoint inhibitors, and inhibitors of the phosphoinositide 3-kinase/AK thymoma/mechanistic target of rapamycin pathway...
February 2018: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29251290/comparing-outcomes-of-genetic-counseling-options-in-breast-and-ovarian-cancer-an-integrative-review%C3%A2
#12
Danielle M Fournier, Angela F Bazzell, Joyce E Dains
PROBLEM IDENTIFICATION: Genetic counseling is vital in helping people at high risk for hereditary breast and ovarian cancer (HBOC) make informed decisions to undergo BRCA testing. Many people, particularly those in rural locations, lack access to these services. This review examines evidence to determine if remotely delivered genetic counseling via telephone or telemedicine is an effective alternative to in-person counseling for people who are at high risk for HBOC.
. LITERATURE SEARCH: A literature review was completed by searching PubMed, SCOPUS, and CINAHL® databases...
January 1, 2018: Oncology Nursing Forum
https://www.readbyqxmd.com/read/29242595/germline-brca-mutation-in-male-carriers-ripe-for-precision-oncology
#13
REVIEW
Ricardo Romão Nazário Leão, Aryeh Joshua Price, Robert James Hamilton
BACKGROUND: Prostate cancer (PC) is one of the known heritable cancers with individual variations attributed to genetic factors. BRCA1 and BRCA2 are tumour suppressor genes with crucial roles in repairing DNA and thereby maintaining genomic integrity. Germline BRCA mutations predispose to multiple familial tumour types including PC. METHODS: We performed a Pubmed database search along with review of reference lists from prominent articles to capture papers exploring the association between BRCA mtuations and prostate cancer risk and prognosis...
December 14, 2017: Prostate Cancer and Prostatic Diseases
https://www.readbyqxmd.com/read/29240602/unclassified-variants-of-brca1-and-brca2-in-korean-patients-with-ovarian-cancer
#14
Min Chul Choi, Ja-Hyun Jang, Sang Geun Jung, Hyun Park, Won Duk Joo, Seung Hun Song, Chan Lee, Je Ho Lee
OBJECTIVE: The aim of the present study was to investigate unclassified variants (UVs) in BRCA1 and 2 of Korean patients with ovarian cancer. METHODS: We retrospectively analyzed 138 patients diagnosed with ovarian/fallopian tubal/peritoneal cancer between January 2013 and January 2016, whose BRCA genetic test results and clinical characteristics were available for review. Patient peripheral blood lymphocyte specimens were assessed for BRCA mutations and variations by direct sequencing...
December 13, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29228641/brca-mutations-in-the-manifestation-and-treatment-of-ovarian-cancer
#15
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...
November 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/29205122/parp-inhibitors-in-epithelial-ovarian-cancer
#16
Kristin N Taylor, Ramez N Eskander
Background Ovarian cancer remains the most common lethal gynecologic malignancy. The therapeutic gains with use of traditional cytotoxic chemotherapy in advanced stage disease remain limited, reflecting the need for novel therapies. Poly(ADP-ribose) polymerase (PARP) inhibitors have recently demonstrated a significant therapeutic effect in patients with recurrent, high grade serous ovarian cancer, both in the treatment of existing disease and in prolonging the disease-free interval. Objective The purpose of this article is to discuss PARP inhibitor use in patients with advanced stage ovarian cancer, and to extensively review the existing clinical literature and related patents...
December 3, 2017: Recent Patents on Anti-cancer Drug Discovery
https://www.readbyqxmd.com/read/29202431/triple-negative-breast-cancer-emerging-therapeutic-modalities-and-novel-combination-therapies
#17
REVIEW
Alice Lee, Mustafa B A Djamgoz
Triple negative breast cancer (TNBC) is a complex and aggressive subtype of breast cancer which lacks oestrogen receptors, progesterone receptors and HER2 amplification, thereby making it difficult to target therapeutically. In addition, TNBC has the highest rates of metastatic disease and the poorest overall survival of all breast cancer subtypes. Resultantly, development of targeted therapies for TNBC is urgently needed. Recent efforts aimed at molecular characterisation of TNBCs have revealed various emerging therapeutic targets including PARP1, receptor and non-receptor tyrosine kinases, immune-checkpoints, androgen receptor and epigenetic proteins...
January 2018: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/29187427/the-role-of-the-androgen-receptor-signaling-in-breast-malignancies
#18
REVIEW
Panagiotis F Christopoulos, Nikolaos I Vlachogiannis, Christiana T Vogkou, Michael Koutsilieris
Breast cancer (BrCa) is the most common malignancy among women worldwide, and one of the leading causes of cancer-related deaths in females. Despite the development of novel therapeutic modalities, triple-negative breast cancer (TNBC) remains an incurable disease. Androgen receptor (AR) is widely expressed in BrCa and its role in the disease may differ depending on the molecular subtype and the stage. Interestingly, AR has been suggested as a potential target candidate in TNBC, while sex hormone levels may regulate the role of AR in BrCa subtypes...
December 2017: Anticancer Research
https://www.readbyqxmd.com/read/29171761/new-agents-for-the-management-of-resistant-metastatic-breast-cancer
#19
REVIEW
Jesus Anampa, Joseph A Sparano
Metastatic breast cancer (MBC) is an incurable disease and treatment is directed towards symptom palliation and survival prolongation. Treatment selection in patients is based on tumor biology, age, comorbidities, performance status, tumor burden, and prior treatment history. Areas covered: This present review summarizes the recent treatment strategies in the management of MBC, highlighting regimens after first-line therapy. Topics discussed include new strategies for endocrine therapy, anti-HER2 therapy, and promising strategies for the management of triple negative breast cancer...
December 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/29166829/rucaparib-a-poly-adp-ribose-polymerase-inhibitor-for-brca-mutated-relapsed-ovarian-cancer
#20
Donald C Moore, J Tanner Ringley, Jolly Patel
OBJECTIVE: To review the pharmacology, safety, efficacy, and the role of rucaparib in the treatment of relapsed, advanced ovarian cancer. SUMMARY: A total of 2 phase I/II trials and 1 phase II trial have evaluated the safety and efficacy of oral rucaparib in ovarian cancer. In patients with deleterious BRCA1/2 mutation, an overall response rate of 80% was achieved in the phase II trial Assessment of Rucaparib in Ovarian CancEr Trial 2 (ARIEL2). In the same trial, progression-free survival was higher in patients with BRCA1/2 mutation and BRCA wild types with high loss of heterozygosity (LOH) than BRCA wild types with low LOH...
January 1, 2017: Journal of Pharmacy Practice
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