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https://www.readbyqxmd.com/read/28994108/value-of-a-molecular-screening-program-to-support-clinical-trial-enrollment-in-asian-cancer-patients-the-integrated-molecular-analysis-of-cancer-imac-study
#1
Valerie Heong, Nicholas L Syn, Xiao Wen Lee, Nur Sabrina Sapari, Xue Qing Koh, Zul Fazreen Adam Isa, Joey Sy Lim, Diana Lim, Brendan Pang, Yee Liang Thian, Lai Kuan Ng, Andrea L Wong, Ross Andrew Soo, Wei Peng Yong, Cheng Ean Chee, Soo-Chin Lee, Boon-Cher Goh, Richie Soong, David S P Tan
The value of precision oncology initiatives in Asian contexts remains unresolved. Here we review the institutional implementation of prospective molecular screening to facilitate accrual of patients into biomarker-driven clinical trials, and to explore the mutational landscape of advanced tumors occurring in a prospective cohort of Asian patients (n = 396) with diverse cancer types. Next-generation sequencing (NGS) and routine clinicopathological assays such as immunohistochemistry, copy number analysis, and in situ hybridization tests were performed on tumor samples...
October 9, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28976722/whole-exome-sequencing-as-a-diagnostic-adjunct-to-clinical-testing-in-a-tertiary-referral-cohort-of-3988-fetuses-with-structural-abnormalities
#2
Fang Fu, Ru Li, Yan Li, Zhi-Qiang Nie, Ting-Ying Lei, Dan Wang, Xin Yang, Jin Han, Min Pan, Li Zhen, Yan-Mei Ou, Jian Li, Fao-Tao Li, Xiang-Yi Jing, Dong-Zhi Li, Can Liao
OBJECTIVES: To evaluate the diagnostic yield of exome sequencing in diagnosing monogenic disorders in fetuses with structural malformations and to describe the information on pathogenic variants that is provided by exome sequencing. METHODS: Sequentially performed karyotyping, chromosomal microarray analysis(CMA) and WES on a retrospectively series of fetuses with structural abnormalities, diagnostic rates of three techniques overall and for phenotypic subgroups, and informations on pathogenic variants identified by exome sequencing...
October 4, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28974871/imperforate-hymen-varied-presentation-new-associations-and-management
#3
Raghu Sampally Ramareddy, Anjala Kumar, Anand Alladi
AIM: Imperforate hymen is an isolated and sporadic event. The aim of this study was to report varied clinical and management problems of consecutive imperforate hymen in children and to compare the genetic review with literature. MATERIALS AND METHODS: This is a retrospective analysis of eight consecutive imperforate hymen children admitted during 2010-2015. RESULTS: Among eight girls, two were infants and six were in the adolescent group...
October 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28973705/identification-and-management-of-tp53-gene-carriers-detected-through-multigene-panel-testing
#4
Tuya Pal, Jennifer Brzosowicz, Ailyn Valladares, Georgia L Wiesner, Christine Laronga
OBJECTIVES: The increasing use of multigene panel tests may reveal an unexpected pathogenic variant in the tumor protein p53 (TP53) gene among individuals who do not meet clinical criteria for Li-Fraumeni syndrome (LFS). Among a registry-based sample of individuals with a pathogenic (P) or likely pathogenic (LP) variant in TP53, we sought to characterize the original clinical context in which genetic testing was performed, the personal and family history and whether they met clinical LFS criteria, and the follow-up care following diagnosis among those in whom this information was available...
October 2017: Southern Medical Journal
https://www.readbyqxmd.com/read/28973585/characteristics-of-unruptured-compared-to-ruptured-intracranial-aneurysms-a-multicenter-case-control-study
#5
Isabel C Hostettler, Varinder S Alg, Nichole Shahi, Fatima Jichi, Stephen Bonner, Daniel Walsh, Diederik Bulters, Neil Kitchen, Martin M Brown, Henry Houlden, Joan Grieve, David J Werring
BACKGROUND: Only a minority of intracranial aneurysms rupture to cause subarachnoid hemorrhage. OBJECTIVE: To test the hypothesis that unruptured aneurysms have different characteristics and risk factor profiles compared to ruptured aneurysms. METHODS: We recruited patients with unruptured aneurysms or aneurysmal subarachnoid hemorrhages at 22 UK hospitals between 2011 and 2014. Demographic, clinical, and imaging data were collected using standardized case report forms...
July 25, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28960151/brainstem-pilocytic-astrocytoma-with-h3-k27m-mutation-case-report
#6
Shuhei Morita, Masayuki Nitta, Yoshihiro Muragaki, Takashi Komori, Kenta Masui, Takashi Maruyama, Koichi Ichimura, Yoshiko Nakano, Tatsuo Sawada, Shunichi Koriyama, Shunsuke Tsuzuki, Takayuki Yasuda, Kazutoshi Hashimoto, Akihiro Niwa, Takakazu Kawamata
In this report, the authors present the first case of adult brainstem pilocytic astrocytoma (PA) with the H3 K27M mutation. A 53-year-old man was incidentally found to have a 2.5-cm partially enhanced tumor in the tectum on MRI. The enhancement in the lesion increased over 3 years, and gross-total removal was performed via the occipital transtentorial approach. The resected tissue indicated PA, WHO Grade I, and genetic analysis revealed the H3 K27M mutation. However, although the radiological, surgical, and pathological findings all corresponded to PA, this entity can easily be misdiagnosed as diffuse midline glioma with the H3 K27M mutation, which is classified as a WHO Grade IV tumor according to the updated classification...
September 29, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28947568/discrimination-of-germline-egfr-t790m-mutations-in-plasma-cell-free-dna-allows-study-of-prevalence-across-31-414-cancer-patients
#7
Yuebi Hu, Ryan S Alden, Justin I Odegaard, Stephen R Fairclough, Ruthia Chen, Jennifer Heng, Nora Feeney, Rebecca Nagy, Jayshree Shah, Bryan Ulrich, Martin Gutierrez, Richard B Lanman, Judy E Garber, Cloud P Paweletz, Geoffrey R Oxnard
PURPOSE: Plasma cell-free DNA (cfDNA) analysis is increasingly used clinically for cancer genotyping, but may lead to incidental identification of germline risk alleles. We studied EGFR T790M mutations in non-small cell lung cancer (NSCLC) toward the aim of discriminating germline and cancer-derived variants within cfDNA. EXPERIMENTAL DESIGN: Patients with EGFR-mutant NSCLC, some with known germline EGFR T790M, underwent plasma genotyping. Separately, deidentified genomic data and buffy coat specimens from a clinical plasma next-generation sequencing (NGS) laboratory were reviewed and tested...
September 25, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28943725/exploring-the-potential-duty-of-care-in-clinical-genomics-under-uk-law
#8
Colin Mitchell, Corrette Ploem, Victoria Chico, Elizabeth Ormondroyd, Alison Hall, Susan Wallace, Michael Fay, Deirdre Goodwin, Jessica Bell, Simon Phillips, Jenny C Taylor, Raoul Hennekam, Jane Kaye
Genome-wide sequencing technologies are beginning to be used in projects that have both clinical diagnostic and research components. The clinical application of this technology, which generates a huge amount of information of varying diagnostic certainty, involves addressing a number of challenges to establish appropriate standards. In this article, we explore the way that UK law may respond to three of these key challenges and could establish new legal duties in relation to feedback of findings that are unrelated to the presenting condition (secondary, additional or incidental findings); duties towards genetic relatives as well as the patient and duties on the part of researchers and professionals who do not have direct contact with patients...
September 2017: Medical Law International
https://www.readbyqxmd.com/read/28939587/expression-and-genetic-variation-in-neuroendocrine-signaling-pathways-in-lethal-and-nonlethal-prostate-cancer-among-men-diagnosed-with-localized-disease
#9
Donghao Lu, Jessica Carlsson, Kathryn L Penney, Sabina Davidsson, Swen-Olof Andersson, Lorelei A Mucci, Unnur Valdimarsdóttir, Ove Andrén, Fang Fang, Katja Fall
BACKGROUND: Recent data suggest that neuroendocrine signaling pathways may play a role in the progression of prostate cancer, particularly for early-stage disease. We aimed to explore whether expression of selected genes in the adrenergic, serotoninergic, glucocorticoid, and dopaminergic pathways differs in prostate tumor tissue from men with lethal disease compared to men with nonlethal disease. METHODS: Based on the Swedish Watchful Waiting Cohort, we included 511 men diagnosed with incidental prostate cancer through TURP during 1977-1998 with follow-up up to 30 years...
September 22, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28840409/physician-experiences-and-understanding-of-genomic-sequencing-in-oncology
#10
Caroline M Weipert, Kerry A Ryan, Jessica N Everett, Beverly M Yashar, Arul M Chinnaiyan, J Scott Roberts, Raymond De Vries, Brian J Zikmund-Fisher, Victoria M Raymond
The amount of information produced by genomic sequencing is vast, technically complicated, and can be difficult to interpret. Appropriately tailoring genomic information for non-geneticists is an essential next step in the clinical use of genomic sequencing. To initiate development of a framework for genomic results communication, we conducted eighteen qualitative interviews with oncologists who had referred adult cancer patients to a matched tumor-normal tissue genomic sequencing study. In our qualitative analysis, we found varied levels of clinician knowledge relating to sequencing technology, the scope of the tumor genomic sequencing study, and incidental germline findings...
August 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28794501/population-based-biobank-participants-preferences-for-receiving-genetic-test-results
#11
Kayono Yamamoto, Tsuyoshi Hachiya, Akimune Fukushima, Naoki Nakaya, Akira Okayama, Kozo Tanno, Fumie Aizawa, Tomoharu Tokutomi, Atsushi Hozawa, Atsushi Shimizu
There are ongoing debates on issues relating to returning individual research results (IRRs) and incidental findings (IFs) generated by genetic research in population-based biobanks. To understand how to appropriately return genetic results from biobank studies, we surveyed preferences for returning IRRs and IFs among participants of the Tohoku Medical Megabank Project (TMM). We mailed a questionnaire to individuals enrolled in the TMM cohort study (Group 1; n=1031) and a group of Tohoku region residents (Group 2; n=2314)...
August 10, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28770072/genetic-demography-at-the-leading-edge-of-the-distribution-of-a-rabies-virus-vector
#12
Antoinette J Piaggio, Amy L Russell, Ignacio A Osorio, Alejandro Jiménez Ramírez, Justin W Fischer, Jennifer L Neuwald, Annie E Tibbels, Luis Lecuona, Gary F McCracken
The common vampire bat, Desmodus rotundus, ranges from South America into northern Mexico in North America. This sanguivorous species of bat feeds primarily on medium to large-sized mammals and is known to rely on livestock as primary prey. Each year, there are hotspot areas of D. rotundus-specific rabies virus outbreaks that lead to the deaths of livestock and economic losses. Based on incidental captures in our study area, which is an area of high cattle mortality from D. rotundus transmitted rabies, it appears that D...
July 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28671958/clinical-genome-sequencing-and-population-preferences-for-information-about-incidental-findings-from-medically-actionable-genes-mags-to-patient-actionable-genes-pags
#13
Thomas Ploug, Søren Holm
Whole genome or exome sequencing is increasingly used in the clinical contexts, and 'incidental' findings are generated. There is need for an adequate policy for the reporting of these findings to individuals. Such a policy has been suggested by the American College of Medical Genetics and Genomics (ACMG). We argue that ACMG's policy is overly paternalistic, and that an adequate policy must take into account population preferences. We conducted a choice based conjoint survey of population preferences for reporting in a representative sample of the Danish population...
2017: PloS One
https://www.readbyqxmd.com/read/28668821/preimplantation-genetic-diagnosis-for-mitochondrial-dna-mutations-analysis-of-one-blastomere-suffices
#14
Suzanne C E H Sallevelt, Joseph C F M Dreesen, Edith Coonen, Aimee D C Paulussen, Debby M E I Hellebrekers, Christine E M de Die-Smulders, Hubert J M Smeets, Patrick Lindsey
BACKGROUND: Preimplantation genetic diagnosis (PGD) is a reproductive strategy for mitochondrial DNA (mtDNA) mutation carriers, strongly reducing their risk of affected offspring. Embryos either without the mutation or with mutation load below the phenotypic threshold are transferred to the uterus. Because of incidental heteroplasmy deviations in single blastomere and the relatively limited data available, we so far preferred relying on two blastomeres rather than one. Considering the negative effect of a two-blastomere biopsy protocol compared with a single-blastomere biopsy protocol on live birth delivery rate, we re-evaluated the error rate in our current dataset...
October 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28662929/isolation-and-characterization-of-a-novel-cervid-adenovirus-from-white-tailed-deer-odocoileus-virginianus-fawns-in-a-captive-herd
#15
Julia F Ridpath, John D Neill, Mitchel V Palmer, Fernando V Bauermann, Shollie M Falkenberg, Peregrine L Wolff
A novel adenovirus, CeAdV1, was isolated from buffy coat and nasal swab samples collected from two captive white-tailed deer (Odocoileus virginianus) fawns. The isolation was an incidental finding in the course of screening animals for use in a research study on an unrelated pathogen. In the screening process, virus isolation was performed on both nasal swabs and buffy coat samples and cytopathic effect was observed. Electron microscopy revealed viral particles with the shape and morphology of an adenovirus...
June 27, 2017: Virus Research
https://www.readbyqxmd.com/read/28654730/promises-pitfalls-and-practicalities-of-prenatal-whole-exome-sequencing
#16
Sunayna Best, Karen Wou, Neeta Vora, Ignatia B Van der Veyver, Ronald Wapner, Lyn S Chitty
Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prenatal WES studies and recent conference abstracts. Thirty-one studies were identified, with diagnostic rates in series of five or more fetuses varying between 6.2% and 80%. Differences in inclusion criteria and trio versus singleton approaches to sequencing largely account for the wide range of diagnostic rates...
June 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28600056/molecular-genetic-characterization-of-a-prenatally-detected-1-484-mb-xq13-3-q21-1-duplication-encompassing-atrx-and-a-literature-review-of-syndromic-intellectual-disability-and-congenital-abnormalities-in-males-with-a-duplication-at-xq13-3-q21-1
#17
Chih-Ping Chen, Hoi-Kin Yip, Liang-Kai Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of dup(X)(q13.3q21.1) in a male fetus and molecular genetic analysis in three generations and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. CASE REPORT: A 35-year-old, primigravid woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. The woman and her mother were phenotypically normal, and there was no intellectual disability in the maternal family...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28553188/incidental-detection-of-synchronous-medullary-thyroid-carcinoma-with-bilateral-adrenal-pheochromocytoma-on-iodine-123-metaiodobenzylguanidine-scintigraphy-leading-to-diagnosis-of-multiple-endocrine-neoplasia-2a
#18
Asif Ali Fakhri, Paul David Rodrigue, Mustafa Aladin, Aun Hussain
We report a case of a 29-year-old female with the family history of medullary thyroid carcinoma (MTC) presenting with hematuria and tachycardia, who was found to have bilateral adrenal masses on abdominal computed tomography and biochemical testing compatible with pheochromocytoma. Iodine-123 (I-123) metaiodobenzylguanidine (MIBG) scintigraphy for preoperative planning prior to planned adrenalectomy revealed incidental synchronous unifocal MTC, along with expected bilateral adrenal pheochromocytomas. Pathology confirmed these findings, and subsequent genetic testing confirmed a rearranged during transfection proto-oncogene mutation on exon 11, confirming the clinical diagnosis of multiple endocrine neoplasia 2A (MEN 2A)...
April 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28502252/differential-analysis-of-mutations-in-the-jewish-population-and-their-implications-for-diseases
#19
Yaron Einhorn, Daphna Weissglas-Volkov, Shai Carmi, Harry Ostrer, Eitan Friedman, Noam Shomron
Sequencing large cohorts of ethnically homogeneous individuals yields genetic insights with implications for the entire population rather than a single individual. In order to evaluate the genetic basis of certain diseases encountered at high frequency in the Ashkenazi Jewish population (AJP), as well as to improve variant annotation among the AJP, we examined the entire exome, focusing on specific genes with known clinical implications in 128 Ashkenazi Jews and compared these data to other non-Jewish populations (European, African, South Asian and East Asian)...
May 15, 2017: Genetics Research
https://www.readbyqxmd.com/read/28473029/-exome-sequencing-for-syndrome-diagnostics
#20
Elsebet Østergaard, Lotte Risom, Jakob Ek, Sabine Grønborg, Morten Dunø, Flemming Skovby
The majority of rare congenital disorders and syndromes have a genetic cause, but the diagnostic rate using standard workup is only around 50%. Whole exome and whole genome sequencing methods have improved the genetic diagnosis of syndromes during the latest few years. This article is a presentation of the current status of methods, results and ethical aspects, especially regarding incidental findings, of exome sequencing, which is now implemented in clinical diagnostics.
April 24, 2017: Ugeskrift for Laeger
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