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  1. Article: Looking beyond year 1 in the molecular era of pediatric brain tumor diagnosis: confirmatory testing of germline variants found on tumor sequencing.

    Greene, Brittany L / Stasi, Shannon M / Ting, Michelle A / Waligorski, Natalie / Cole, Bonnie L / Lockwood, Christina M / Paulson, Vera A / Buchan, Jillian G / Lee, Amy / Ojemann, Jeffrey G / Ellenbogen, Richard G / Stevens, Jeffrey / Leary, Sarah E S

    Frontiers in oncology

    2024  Volume 14, Page(s) 1338022

    Abstract: Purpose: Somatic molecular profiling of pediatric brain tumors aids with the diagnosis and treatment of patients with a variety of high- and low-grade central nervous system neoplasms. Here, we report follow-up targeted germline evaluation for patients ... ...

    Abstract Purpose: Somatic molecular profiling of pediatric brain tumors aids with the diagnosis and treatment of patients with a variety of high- and low-grade central nervous system neoplasms. Here, we report follow-up targeted germline evaluation for patients with possible germline variants following tumor only testing in the initial year in which somatic molecular testing was implemented at a single institution.
    Patients and methods: Somatic testing was completed for all tumors of the central nervous system (CNS) undergoing diagnostic workup at Seattle Children's Hospital during the study period of November 2015 to November 2016. Sequencing was performed in a College of American Pathologists-accredited, Clinical Laboratory Improvements Amendments-certified laboratory using UW-OncoPlex™ assay (version 5), a DNA-based targeted next generation sequencing panel validated to detect genetic alterations in 262 cancer-related genes. We tracked subsequent clinical evaluation and testing on a subgroup of this cohort found to have potential germline variants of interest.
    Results: Molecular sequencing of 88 patients' tumors identified 31 patients with variants that warranted consideration of germline testing. To date, 19 (61%) patients have been tested. Testing confirmed germline variants for ten patients (31% of those identified for testing), one with two germline variants (
    Conclusion: Clinically validated molecular profiling of pediatric brain tumors identifies patients who warrant further germline evaluation. Despite this, only a subset of these patients underwent the indicated confirmatory sequencing. Further work is needed to identify barriers and facilitators to this testing, including the role of genetic counseling and consideration of upfront paired somatic-germline testing.
    Language English
    Publishing date 2024-03-06
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2649216-7
    ISSN 2234-943X
    ISSN 2234-943X
    DOI 10.3389/fonc.2024.1338022
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Year 1 in the Molecular Era of Pediatric Brain Tumor Diagnosis: Application of Universal Clinical Targeted Sequencing in an Unselected Cohort of Children.

    Cole, Bonnie L / Lockwood, Christina M / Stasi, Shannon / Stevens, Jeffrey / Lee, Amy / Ojemann, Jeffrey G / Ellenbogen, Richard G / Leary, Sarah E S

    JCO precision oncology

    2022  Volume 2, Page(s) 1–13

    Abstract: Purpose: Next-generation sequencing is gaining acceptance as a clinical tool to aid diagnosis and guide treatment of pediatric cancer. Prior pilot studies have evaluated the feasibility and utility of clinical genomic profiling in a subset of selected ... ...

    Abstract Purpose: Next-generation sequencing is gaining acceptance as a clinical tool to aid diagnosis and guide treatment of pediatric cancer. Prior pilot studies have evaluated the feasibility and utility of clinical genomic profiling in a subset of selected patients with brain tumors. Here, we report an unselected prospective cohort study to evaluate the clinical use of universal targeted sequencing in pediatric patients with brain tumors.
    Methods: We applied a universal sequencing protocol for all tumors of the CNS undergoing diagnostic workup at Seattle Children's Hospital during the study period of November 2015 to November 2016. All tumors were sequenced using the UW-OncoPlex platform, which is a multiplexed targeted deep gene sequencing panel that detects genetic alterations in 262 cancer-related genes performed in a College of American Pathologists-accredited Clinical Laboratory Improvements Amendments-certified laboratory.
    Results: Eighty-eight patients underwent diagnostic evaluation during the study period, of which 85 tumors (95%) yielded sufficient DNA for sequencing, including 59 newly diagnosed and 26 relapsed. Clinically relevant genetic alterations were identified in 68 of 85 patients (80%). Of these, 57 (67%) had disease-defining or disease-modifying mutations, 44 (52%) had potentially targetable mutations, and 31 (36%) had mutations requiring germline follow-up. As of the last follow-up, seven patients had been prescribed targeted agents on the basis of sequencing results, and nine had confirmed deleterious germline mutations.
    Conclusion: Clinically validated molecular profiling of pediatric brain tumors aids diagnosis and treatment of patients with a variety of high- and low-grade primary and relapsed pediatric brain tumors.
    Language English
    Publishing date 2022-01-27
    Publishing country United States
    Document type Journal Article
    ISSN 2473-4284
    ISSN (online) 2473-4284
    DOI 10.1200/PO.17.00151
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Somatic Versus Germline: A Case Series of Three Children With

    Tam, Lydia T / Cole, Bonnie / Stasi, Shannon M / Paulson, Vera A / Wright, Jason N / Hoeppner, Corrine / Holtzclaw, Susan / Crotty, Erin E / Ellenbogen, Richard G / Lee, Amy / Ermoian, Ralph P / Lockwood, Christina M / Leary, Sarah E S / Ronsley, Rebecca

    JCO precision oncology

    2024  Volume 8, Page(s) e2300333

    Abstract: Somatic versus Germline-A Case Series of Three Children with ATM- mutated Medulloblastoma. ...

    Abstract Somatic versus Germline-A Case Series of Three Children with ATM- mutated Medulloblastoma.
    MeSH term(s) Child ; Humans ; Medulloblastoma/diagnosis ; Medulloblastoma/genetics ; Medulloblastoma/therapy ; Germ-Line Mutation/genetics ; Cerebellar Neoplasms/diagnosis ; Cerebellar Neoplasms/genetics ; Ataxia Telangiectasia Mutated Proteins/genetics
    Chemical Substances ATM protein, human (EC 2.7.11.1) ; Ataxia Telangiectasia Mutated Proteins (EC 2.7.11.1)
    Language English
    Publishing date 2024-01-11
    Publishing country United States
    Document type Journal Article
    ISSN 2473-4284
    ISSN (online) 2473-4284
    DOI 10.1200/PO.23.00333
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Systematic evidence review and meta-analysis of outcomes associated with cancer genetic counseling.

    Culver, Julie O / Bertsch, Nicole L / Kurz, Raluca N / Cheng, Linda L / Pritzlaff, Mary / Rao, Smita K / Stasi, Shannon M / Stave, Christopher D / Sharaf, Ravi N

    Genetics in medicine : official journal of the American College of Medical Genetics

    2023  Volume 26, Issue 1, Page(s) 100980

    Abstract: Purpose: Genetic counseling (GC) is standard of care in genetic cancer risk assessment (GCRA). A rigorous assessment of the data reported from published studies is crucial to ensure the evidence-based implementation of GC.: Methods: We conducted a ... ...

    Abstract Purpose: Genetic counseling (GC) is standard of care in genetic cancer risk assessment (GCRA). A rigorous assessment of the data reported from published studies is crucial to ensure the evidence-based implementation of GC.
    Methods: We conducted a systematic review and meta-analysis of 17 patient-reported and health-services-related outcomes associated with pre- and post-test GC in GCRA in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology.
    Results: Twenty-five of 5393 screened articles met inclusion criteria. No articles reporting post-test GC outcomes met inclusion criteria. For patient-reported outcomes, pre-test GC significantly decreased worry, increased knowledge, and decreased perceived risk but did not significantly affect patient anxiety, depression, decisional conflict, satisfaction, or intent to pursue genetic testing. For health-services outcomes, pre-test GC increased correct genetic test ordering, reduced inappropriate services, increased spousal support for genetic testing, and expedited care delivery but did not consistently improve cancer prevention behaviors nor lead to accurate risk assessment. The GRADE certainty in the evidence was very low or low. No included studies elucidated GC effect on mortality, cascade testing, cost-effectiveness, care coordination, shared decision making, or patient time burden.
    Conclusion: The true impact of GC on relevant outcomes is not known low quality or absent evidence. Although a meta-analysis found that pre-test GC had beneficial effects on knowledge, worry, and risk perception, the certainty of this evidence was low according to GRADE methodology. Further studies are needed to support the evidence-based application of GC in GCRA.
    MeSH term(s) Humans ; Genetic Counseling/psychology ; Neoplasms/diagnosis ; Neoplasms/genetics ; Genetic Testing
    Language English
    Publishing date 2023-09-06
    Publishing country United States
    Document type Meta-Analysis ; Systematic Review ; Journal Article ; Review
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2023.100980
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5059: Show issues Location:
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  5. Article ; Online: Preventing Genetic Testing Order Errors With a Laboratory Utilization Management Program.

    Mathias, Patrick C / Conta, Jessie H / Konnick, Eric Q / Sternen, Darci L / Stasi, Shannon M / Cole, Bonnie L / Astion, Michael L / Dickerson, Jane A

    American journal of clinical pathology

    2016  Volume 146, Issue 2, Page(s) 221–226

    Abstract: Objectives: To characterize error rates for genetic test orders between medical specialties and in different settings by examining detailed order information.: Methods: We performed a retrospective analysis of a detailed utilization management case ... ...

    Abstract Objectives: To characterize error rates for genetic test orders between medical specialties and in different settings by examining detailed order information.
    Methods: We performed a retrospective analysis of a detailed utilization management case database, comprising 2.5 years of data and almost 1,400 genetic test orders. After review by multiple reviewers, we categorized order modifications and cancellations, quantified rates of positive results and order errors, and compared genetics with nongenetics providers and inpatient with outpatient orders.
    Results: High cost or problems with preauthorization were the most common reasons for modification and cancellation, respectively. The cancellation rate for nongenetics providers was three times the rate for geneticists, but abnormal result rates were similar between the two groups. The approval rate for inpatient orders was not significantly lower than outpatient orders, and abnormal result rates were similar for these two groups as well. Order error rates were approximately 8% among tests recommended by genetics providers in the inpatient setting, and tests ordered or recommended by nongeneticists had error rates near 5% in both inpatient and outpatient settings.
    Conclusions: Clinicians without specialty training in genetics make genetic test order errors at a significantly higher rate than geneticists. A laboratory utilization management program prevents these order errors from becoming diagnostic errors and reaching the patient.
    MeSH term(s) Genetic Techniques ; Humans ; Medical Errors/prevention & control ; Medical Order Entry Systems ; Quality Assurance, Health Care/methods ; Retrospective Studies
    Language English
    Publishing date 2016-08
    Publishing country England
    Document type Journal Article
    ZDB-ID 2944-0
    ISSN 1943-7722 ; 0002-9173
    ISSN (online) 1943-7722
    ISSN 0002-9173
    DOI 10.1093/ajcp/aqw105
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ud II Zs.91: Show issues Location:
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  6. Article ; Online: The Role of Attention-Deficit/hyperactivity Disorder in the Association between Verbal Ability and Conduct Disorder.

    Smith, Ashley K / Stasi, Shannon M / Rhee, Soo Hyun / Corley, Robin P / Young, Susan E / Hewitt, John K

    Frontiers in psychiatry

    2011  Volume 2, Page(s) 3

    Abstract: Although there is clear evidence that low verbal ability is a risk factor for conduct disorder (CD), some researchers have questioned whether this association is due to the common comorbidity between attention-deficit/hyperactivity disorder (ADHD) and CD. ...

    Abstract Although there is clear evidence that low verbal ability is a risk factor for conduct disorder (CD), some researchers have questioned whether this association is due to the common comorbidity between attention-deficit/hyperactivity disorder (ADHD) and CD. The present study examined the association among verbal ability, ADHD, and CD in a genetically informative sample in order to examine the role of genes and/or environmental influences shared in common with ADHD on the covariation between verbal ability and CD. Participants were 2744 adolescents from the Center for Antisocial Drug Dependence (CADD), and included 360 monozygotic (MZ) female twin pairs, 221 dizygotic (DZ) female twin pairs, 297 MZ male twin pairs, 220 DZ male twin pairs, and 274 opposite-sex DZ twin pairs. The Diagnostic Interview Schedule for Children (DISC-IV) was used to assess lifetime symptoms of ADHD and CD. Verbal ability was assessed via the Vocabulary subtest of the Wechsler Adult Intelligence Scale III (WAIS-III) for individuals over the age of 16 and the Vocabulary subtest of the Wechsler Intelligence Scale for Children III (WISC-III) for individuals under the age of 16. There was a small but significant negative covariance between verbal ability and CD and between verbal ability and ADHD. Results also suggest that the covariation between verbal ability and CD is due to influences shared in common with ADHD.
    Language English
    Publishing date 2011-03-03
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2564218-2
    ISSN 1664-0640 ; 1664-0640
    ISSN (online) 1664-0640
    ISSN 1664-0640
    DOI 10.3389/fpsyt.2011.00003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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