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Incidental genetic finding

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https://www.readbyqxmd.com/read/29215645/cherchez-la-femme-maternal-incidental-findings-can-explain-discordant-prenatal-cell-free-dna-sequencing-results
#1
REVIEW
Diana W Bianchi
Circulating DNA fragments in a pregnant woman's plasma derive from three sources: placenta, maternal bone marrow, and fetus. Prenatal sequencing to noninvasively screen for fetal chromosome abnormalities is performed on this mixed sample; results can therefore reflect the maternal as well as the fetoplacental DNA. Although it is recommended that pretest counseling include the possibility of detecting maternal genomic imbalance, this seldom occurs. Maternal abnormalities that can affect a prenatal screening test result include disorders that affect the size and metabolism of DNA, such as B12 deficiency, autoimmune disease, and intrahepatic cholestasis of pregnancy...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29204794/thoracic-aortic-aneurysm-unlocking-the-silent-killer-secrets
#2
Ayman A Saeyeldin, Camilo A Velasquez, Syed Usman B Mahmood, Adam J Brownstein, Mohammad A Zafar, Bulat A Ziganshin, John A Elefteriades
Thoracic aortic aneurysm (TAA) is an increasingly recognized condition that is often diagnosed incidentally. This review discusses ten of the most relevant epidemiological and clinical secrets of this disease; (1) the difference in pathogenesis between ascending and descending TAAs. TAAs at these two sites act as different diseases, which is related to the different embryologic origins of the ascending and descending aorta. (2) The familial pattern and genetics of thoracic aneurysms. Syndromic TAAs only explain 5% of the pattern of inheritance...
December 4, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29187190/ethical-considerations-in-forensic-genetics-research-on-tissue-samples-collected-post-mortem-in-cape-town-south-africa
#3
Laura J Heathfield, Sairita Maistry, Lorna J Martin, Raj Ramesar, Jantina de Vries
BACKGROUND: The use of tissue collected at a forensic post-mortem for forensic genetics research purposes remains of ethical concern as the process involves obtaining informed consent from grieving family members. Two forensic genetics research studies using tissue collected from a forensic post-mortem were recently initiated at our institution and were the first of their kind to be conducted in Cape Town, South Africa. MAIN BODY: This article discusses some of the ethical challenges that were encountered in these research projects...
November 29, 2017: BMC Medical Ethics
https://www.readbyqxmd.com/read/29131714/understanding-variations-in-secondary-findings-reporting-practices-across-u-s-genome-sequencing-laboratories
#4
Sara Ackerman, Barbara Koenig
BACKGROUND: Increasingly used for clinical purposes, genome and exome sequencing can generate clinically relevant information that is not directly related to the reason for testing (incidental or secondary findings). Debates about the ethical implications of secondary findings were sparked by the American College of Medical Genetics (ACMG)'s 2013 policy statement, which recommended that laboratories report pathogenic alterations in 56 genes. Although wide variation in laboratories' secondary findings policies has been reported, little is known about its causes...
November 13, 2017: AJOB Empirical Bioethics
https://www.readbyqxmd.com/read/29096897/current-approaches-to-diagnosis-and-treatment-of-ductal-carcinoma-in-situ-and-future-directions
#5
Randi Ryan, Ossama Tawfik, Roy A Jensen, Shrikant Anant
The presentation and treatment of ductal carcinoma in situ (DCIS) has changed substantially over the years. While previously an incidental pathologic finding in more advanced, palpable tumors, the institution of screening mammography has repositioned this disease entity as one largely diagnosed as a non-palpable lesion, often prior to any invasive disease. As DCIS is a precursor to invasive carcinoma, evolution in the approach to treatment has followed in the footsteps of that for invasive disease, including breast conservation therapy, adjuvant radiation, and use of antihormonal therapy...
2017: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29069390/crimetoyhu-a-new-web-tool-to-develop-yeast-based-functional-assays-for-characterizing-cancer-associated-missense-variants
#6
Alberto Mercatanti, Samuele Lodovichi, Tiziana Cervelli, Alvaro Galli
Evaluation of functional impact of cancer-associated missense variants is more difficult to assess as compared to protein-truncating mutations and, consequently, standard guidelines for the interpretation of sequence variants have been recently proposed. A number of algorithms and software products were developed to predict the impact of cancer-associated missense mutations on protein structure and function. Importantly, direct assessment of the variants using high-throughput functional assays using simple genetic systems can help in speeding up the functional evaluation of newly identified cancer associated variants...
October 23, 2017: FEMS Yeast Research
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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