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https://www.readbyqxmd.com/read/28916957/perspectives-of-women-considering-bilateral-prophylactic-mastectomy-and-their-peers-towards-a-telephone-based-peer-support-intervention
#1
D St-Pierre, K Bouchard, L Gauthier, J Chiquette, Michel Dorval
Prophylactic mastectomy is an effective strategy to reduce the risk of breast cancer for women carrying a BRCA1/2 germline mutation. This decision is complex and may raise various concerns. Women considering this surgery have reported their desire to discuss the implications of this procedure with women who have undergone prophylactic mastectomy. We conducted a qualitative study to describe the topics covered during a telephone-based peer support intervention between women considering prophylactic mastectomy (recipients) and women who had undergone this surgery (peers), and to explore their perspectives regarding the intervention...
September 15, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28915716/implementation-and-utilization-of-the-molecular-tumor-board-to-guide-precision-medicine
#2
REVIEW
Shuko Harada, Rebecca Arend, Qian Dai, Jessica A Levesque, Thomas S Winokur, Rongjun Guo, Martin J Heslin, Lisle Nabell, L Burt Nabors, Nita A Limdi, Kevin A Roth, Edward E Partridge, Gene P Siegal, Eddy S Yang
BACKGROUND: With rapid advances in genomic medicine, the complexity of delivering precision medicine to oncology patients across a university health system demanded the creation of a Molecular Tumor Board (MTB) for patient selection and assessment of treatment options. The objective of this report is to analyze our progress to date and discuss the importance of the MTB in the implementation of personalized medicine. MATERIALS AND METHODS: Patients were reviewed in the MTB for appropriateness for comprehensive next generation sequencing (NGS) cancer gene set testing based on set criteria that were in place...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28914618/hereditary-breast-and-ovarian-cancer-syndrome-moving-beyond-brca1-and-brca2
#3
Lien N Hoang, Blake C Gilks
The recent implementation of next generation sequencing and multigene platforms has expanded the spectrum of hereditary breast and ovarian cancer syndrome, beyond the traditional genes BRCA1 and BRCA2. A large number of other moderate penetrance genes have now been uncovered, which also play critical roles in repairing double stranded DNA breaks through the homologous recombination pathway. This review discusses the landmark discoveries of BRCA1 and BRCA2, the homologous repair pathway and new genes discovered in hereditary breast and ovarian cancer syndrome, as well as their clinicopathologic significance and implications for genetic testing...
September 13, 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28914396/the-expected-benefit-of-preventive-mastectomy-on-breast-cancer-incidence-and-mortality-in-brca-mutation-carriers-by-age-at-mastectomy
#4
Vasily Giannakeas, Steven A Narod
PURPOSE: Preventive breast surgery is offered to unaffected BRCA mutation carriers to prevent breast cancer incidence and mortality. The clinical benefit of preventive mastectomy can be measured in several ways, including extension of life expectancy (mean years of life gained) and by estimating the probability of surviving until age 80. We sought to estimate the expected benefit of a preventive mastectomy at various ages, using these indices of mortality, by simulating hypothetical cohorts of women...
September 15, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28912973/clinical-characteristics-in-patients-with-triple-negative-breast-cancer
#5
Janet Yeh, Jennifer Chun, Shira Schwartz, Annie Wang, Elizabeth Kern, Amber A Guth, Deborah Axelrod, Richard Shapiro, Freya Schnabel
PURPOSE: The purpose of this study was to compare and contrast the clinical characteristics of the triple negative breast cancer (TNBC) and non-TNBC patients, with a particular focus on genetic susceptibility and risk factors prior to diagnosis. METHODS: Our institutional database was queried for all patients diagnosed with invasive breast cancer between January 2010 and May 2016. RESULTS: Out of a total of 1964 patients, 190 (10%) patients had TNBC...
2017: International Journal of Breast Cancer
https://www.readbyqxmd.com/read/28912125/blm-helicase-regulates-dna-repair-by-counteracting-rad51-loading-at-dna-double-strand-break-sites
#6
Dharm S Patel, Sarah M Misenko, Joonyoung Her, Samuel F Bunting
The BLM gene product, BLM, is a RECQ helicase that is involved in DNA replication and repair of DNA double-strand breaks by the homologous recombination (HR) pathway. During HR, BLM has both pro- and anti-recombinogenic activities, either of which may contribute to maintenance of genomic integrity. We find that in cells expressing a mutant version of BRCA1, an essential HR factor, ablation of BLM rescues genomic integrity and cell survival in the presence of DNA double-strand breaks. Improved genomic integrity in these cells is linked to a substantial increase in the stability of RAD51 at DNA double-strand break sites and in the overall efficiency of HR...
September 14, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28911102/fancj-helicase-controls-the-balance-between-short-and-long-tract-gene-conversions-between-sister-chromatids
#7
Sarmi Nath, Kumar Somyajit, Anup Mishra, Ralph Scully, Ganesh Nagaraju
The FANCJ DNA helicase is linked to hereditary breast and ovarian cancers as well as bone marrow failure disorder Fanconi anemia (FA). Although FANCJ has been implicated in the repair of DNA double-strand breaks (DSBs) by homologous recombination (HR), the molecular mechanism underlying the tumor suppressor functions of FANCJ remains obscure. Here, we demonstrate that FANCJ deficient human and hamster cells exhibit reduction in the overall gene conversions in response to a site-specific chromosomal DSB induced by I-SceI endonuclease...
September 6, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28905878/detecting-splicing-patterns-in-genes-involved-in-hereditary-breast-and-ovarian-cancer
#8
Grégoire Davy, Antoine Rousselin, Nicolas Goardon, Laurent Castéra, Valentin Harter, Angelina Legros, Etienne Muller, Robin Fouillet, Baptiste Brault, Anna S Smirnova, Fréderic Lemoine, Pierre de la Grange, Marine Guillaud-Bataille, Virginie Caux-Moncoutier, Claude Houdayer, Françoise Bonnet, Cécile Blanc-Fournier, Pascaline Gaildrat, Thierry Frebourg, Alexandra Martins, Dominique Vaur, Sophie Krieger
Interpretation of variants of unknown significance (VUS) is a major challenge for laboratories performing molecular diagnosis of hereditary breast and ovarian cancer (HBOC), especially considering that many genes are now known to be involved in this syndrome. One important way these VUS can have a functional impact is through their effects on RNA splicing. Here we present a custom RNA-Seq assay plus bioinformatics and biostatistics pipeline to analyse specifically alternative and abnormal splicing junctions in 11 targeted HBOC genes...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28905785/re-germline-mutations-in-atm-and-brca1-2-distinguish-risk-for-lethal-and-indolent-prostate-cancer-and-are-associated-with-early-age-at-death
#9
Samir S Taneja
No abstract text is available yet for this article.
October 2017: Journal of Urology
https://www.readbyqxmd.com/read/28904242/the-g-quadruplex-dna-stabilizing-drug-pyridostatin-promotes-dna-damage-and-downregulates-transcription-of-brca1-in-neurons
#10
Jose F Moruno-Manchon, Edward C Koellhoffer, Jayakrishnan Gopakumar, Shashank Hambarde, Nayun Kim, Louise D McCullough, Andrey S Tsvetkov
The G-quadruplex is a non-canonical DNA secondary structure formed by four DNA strands containing multiple runs of guanines. G-quadruplexes play important roles in DNA recombination, replication, telomere maintenance, and regulation of transcription. Small molecules that stabilize the G-quadruplexes alter gene expression in cancer cells. Here, we hypothesized that the G-quadruplexes regulate transcription in neurons. We discovered that pyridostatin, a small molecule that specifically stabilizes G-quadruplex DNA complexes, induced neurotoxicity and promoted the formation of DNA double-strand breaks (DSBs) in cultured neurons...
September 12, 2017: Aging
https://www.readbyqxmd.com/read/28903167/oncologic-safety-of-prophylactic-nipple-sparing-mastectomy-in-a-population-with-brca-mutations-a-multi-institutional-study
#11
James W Jakub, Anne Warren Peled, Richard J Gray, Rachel A Greenup, John V Kiluk, Virgilio Sacchini, Sarah A McLaughlin, Julia C Tchou, Robert A Vierkant, Amy C Degnim, Shawna Willey
Importance: Nipple-sparing mastectomy (NSM) offers superior cosmetic outcomes and has been gaining wide acceptance; however, its role among patients with BRCA mutations remains controversial. Objective: To report on the oncologic safety of NSM and provide evidence-based data to patients and health care professionals regarding preservation of the nipple-areolar complex during a risk-reducing mastectomy in a population with BRCA mutations. Design, Setting, and Participants: We retrospectively reviewed the outcomes of 9 institutions' experience with prophylactic NSM from 1968 to 2013 in a cohort of patients with BRCA mutations...
September 13, 2017: JAMA Surgery
https://www.readbyqxmd.com/read/28900502/a-bap1-mutation-specific-microrna-signature-predicts-clinical-outcomes-in-clear-cell-renal-cell-carcinoma-patients-with-wild-type-bap1
#12
Yu-Zheng Ge, Lu-Wei Xu, Chang-Cheng Zhou, Tian-Ze Lu, Wen-Tao Yao, Ran Wu, You-Cai Zhao, Xiao Xu, Zhi-Kai Hu, Min Wang, Xiao-Bing Yang, Liu-Hua Zhou, Bing Zhong, Zheng Xu, Wen-Cheng Li, Jia-Geng Zhu, Rui-Peng Jia
Background: Clear cell renal cell carcinoma (ccRCC) is the most prevalent histologic subtype of kidney cancers in adults, which could be divided into two distinct subgroups according to the BRCA1 associated protein-1 (BAP1) mutation status. In the current study, we comprehensively analyzed the genome-wide microRNA (miRNA) expression profiles in ccRCC, with the aim to identify the differentially expressed miRNAs between BAP1 mutant and wild-type tumors, and generate a BAP1 mutation-specific miRNA signature for ccRCC patients with wild-type BAP1...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28895177/a-novel-use-for-olaparib-for-treatment-of-metastatic-castration-recurrent-prostate-cancer
#13
Grace A Martin, Adrienne H Chen, Kinjal Parikh
Although mortality from prostate cancer has declined over the past 20 years as a result of early detection and treatment, the 5-year survival rate for men with prostate cancer who develop metastatic disease is only 29%. Current treatment options for metastatic castration-recurrent prostate cancer (mCRPC) are associated with toxicity and a limited durable response; therefore, additional lines of efficacious and minimally toxic therapy are needed. Olaparib, a poly(adenosine 5'-diphosphate) ribose polymerase (PARP) inhibitor, received United States Food and Drug Administration breakthrough therapy designation in January 2016 for the treatment of patients with BRCA1/2 or ATM gene-mutated mCRPC based on results of a compelling phase II trial of olaparib in patients with advanced castration resistant prostate cancer (TOPARP-A)...
September 12, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28894848/risk-reduction-strategies-in-breast-cancer-prevention
#14
REVIEW
Mauricio Costa, Paula Saldanha
Evaluating the risk of breast cancer makes it possible to identify women with a high risk of developing breast cancer in the future. Adopting a healthier lifestyle, involving diet and exercise, is one way of reducing this risk-but there are other, non-modifiable risk factors, such as family history, genetics and diagnosis of premalignant lesions. In this high-risk population, the tracking must be rigorous and involve the participation of the patient herself, earlier and more frequent clinical assessment, and the use of imaging screening...
July 2017: Eur J Breast Health
https://www.readbyqxmd.com/read/28893223/brca2-carriers-with-male-breast-cancer-show-elevated-tumour-methylation
#15
Siddhartha Deb, Kylie L Gorringe, Jia-Min B Pang, David J Byrne, Elena A Takano, kConFab Investigators, Alexander Dobrovic, Stephen B Fox
BACKGROUND: Male breast cancer (MBC) represents a poorly characterised group of tumours, the management of which is largely based on practices established for female breast cancer. However, recent studies demonstrate biological and molecular differences likely to impact on tumour behaviour and therefore patient outcome. The aim of this study was to investigate methylation of a panel of commonly methylated breast cancer genes in familial MBCs. METHODS: 60 tumours from 3 BRCA1 and 25 BRCA2 male mutation carriers and 32 males from BRCAX families were assessed for promoter methylation by methylation-sensitive high resolution melting in a panel of 10 genes (RASSF1A, TWIST1, APC, WIF1, MAL, RARβ, CDH1, RUNX3, FOXC1 and GSTP1)...
September 11, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28891274/breast-cancer-risk-and-germline-genomic-profiling-of-women-with-neurofibromatosis-type-1-who-developed-breast-cancer
#16
Xia Wang, Jamie K Teer, Renee N Tousignant, Albert M Levin, David Boulware, Dhananjay A Chitale, Brandon M Shaw, Zhihua Chen, Yonghong Zhang, Jaishri O Blakeley, Maria T Acosta, Ludwine M Messiaen, Bruce R Korf, Michael A Tainsky
NF1 mutations predispose to neurofibromatosis type1 (NF1) and women with NF1 have a moderately elevated risk for breast cancer, especially under age 50. Germline genomic analysis may better define the risk so screening and prevention can be applied to the individuals who benefit the most. Survey conducted in several neurofibromatosis clinics in the United States has demonstrated a 17.2% lifetime risk of breast cancer in women affected with NF1. Cumulated risk to age 50 is estimated to be 9.27%. For genomic profiling, fourteen women with NF1 and a history of breast cancer were recruited and underwent whole exon sequencing (WES), targeted genomic DNA based and RNA based analysis of the NF1 gene...
September 10, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28890386/co-targeting-c-met-and-dna-double-strand-breaks-dsbs-therapeutic-strategies-in-brca-mutated-gastric-carcinomas
#17
REVIEW
Chrysovalantou Mihailidou, Michalis V Karamouzis, Dimitrios Schizas, Athanasios G Papavassiliou
Gastric cancer (GC) is a threatening malignancy characterized by heterogeneity. Current therapies use DNA damaging agents, for example, chemotherapeutic agents and ionizing radiation (IR). However, a significant portion of GC patients develops therapeutic resistance to DNA damage response (DDR) - inducing agents. An important mechanism is the stimulation of the c-MET RTK, which is a tyrosine kinase receptor and its ligand hepatocyte growth factor (HGF), which facilitates cell survival by boosting DNA damage repair pathways and via escaping cell cycle arrest...
September 7, 2017: Biochimie
https://www.readbyqxmd.com/read/28888541/frequency-of-mutations-in-a-large-series-of-clinically-ascertained-ovarian-cancer-cases-tested-on-multi-gene-panels-compared-to-reference-controls
#18
Jenna Lilyquist, Holly LaDuca, Eric Polley, Brigette Tippin Davis, Hermela Shimelis, Chunling Hu, Steven N Hart, Jill S Dolinsky, Fergus J Couch, David E Goldgar
OBJECTIVES: Given the lack of adequate screening modalities, knowledge of ovarian cancer risks for carriers of pathogenic alterations in predisposition genes is important for decisions about risk-reduction by salpingo-oophorectomy. We sought to determine which genes assayed on multi-gene panels are associated with ovarian cancer, the magnitude of the associations, and for which clinically meaningful associations could be ruled out. METHODS: 7768 adult ovarian cancer cases of European ancestry referred to a single clinical testing laboratory underwent multi-gene panel testing for detection of pathogenic alterations in known or suspected ovarian cancer susceptibility genes...
September 7, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28884397/brca1-gene-function-and-deficiency
#19
REVIEW
Miho Takaoka, Yoshio Miki
The BRCA1 protein, a hereditary breast and ovarian cancer-causing gene product, is known as a multifunctional protein that performs various functions in cells. It is well known, along with BRCA 2, to cause hereditary breast and ovarian cancer, but here we will specifically focus on BRCA1. We introduce the mechanism and the latest report on homologous recombination repair, replication, involvement in checkpoint regulation, transcription, chromatin remodeling, and cytoplasmic function (centrosome regulation, apoptosis, selective autophagy), and consider the possibility of carcinogenesis from inhibition of the intracellular functions in each...
September 7, 2017: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28882436/antitumor-activity-and-safety-of-the-parp-inhibitor-rucaparib-in-patients-with-high-grade-ovarian-carcinoma-and-a-germline-or-somatic-brca1-or-brca2-mutation-integrated-analysis-of-data-from-study-10-and-ariel2
#20
Amit M Oza, Anna V Tinker, Ana Oaknin, Ronnie Shapira-Frommer, Iain A McNeish, Elizabeth M Swisher, Isabelle Ray-Coquard, Katherine Bell-McGuinn, Robert L Coleman, David M O'Malley, Alexandra Leary, Lee-May Chen, Diane Provencher, Ling Ma, James D Brenton, Gottfried E Konecny, Cesar M Castro, Heidi Giordano, Lara Maloney, Sandra Goble, Kevin K Lin, James Sun, Mitch Raponi, Lindsey Rolfe, Rebecca S Kristeleit
OBJECTIVE: An integrated analysis was undertaken to characterize the antitumor activity and safety profile of the oral poly(ADP-ribose) polymerase inhibitor rucaparib in patients with relapsed high-grade ovarian carcinoma (HGOC). METHODS: Eligible patients from Study 10 (NCT01482715) and ARIEL2 (NCT01891344) who received a starting dose of oral rucaparib 600mg twice daily (BID) with or without food were included in these analyses. The integrated efficacy population included patients with HGOC and a deleterious germline or somatic BRCA1 or BRCA2 (BRCA1/2) mutation who received at least two prior chemotherapies and were sensitive, resistant, or refractory to platinum-based chemotherapy...
September 4, 2017: Gynecologic Oncology
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