Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment - Test2 - elhamkhani - TriplyDB

Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment

Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment

http://www.wikidata.org/entity/Q33796155

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Clinical Genetic Testing in Gastroenterology PALB2: research reaching to clinical outcomes for women with breast cancer Is it time to split strategies to treat homologous recombinant deficiency in pancreas cancer?Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?Screening for Cancer Genetic Syndromes With a Simple Risk-Assessment Tool in a Community-Based Open-Access Colonoscopy Practice.Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing.VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.Phase I/Ib study of olaparib and carboplatin in women with triple negative breast cancer.Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results.Genetic-based prediction of disease traits: prediction is very difficult, especially about the future Novel therapeutic strategies in the treatment of triple-negative breast cancer.Payer Coverage for Hereditary Cancer Panels: Barriers, Opportunities, and Implications for the Precision Medicine Initiative.Counselling framework for moderate-penetrance cancer-susceptibility mutations.A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.Next generation sequencing and tumor mutation profiling: are we ready for routine use in the oncology clinic?ATM gene mutations in sporadic breast cancer patients from Brazil.Low-level constitutional mosaicism of a de novoBRCA1 gene mutation.Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.How can we best respect patient autonomy in breast cancer treatment decisions?Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients.Clinical genomics: when whole genome sequencing is like a whole-body CT scan.Functional consequence of the MET-T1010I polymorphism in breast cancer Concerns about cancer risk and experiences with genetic testing in a diverse population of patients with breast cancer.Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk.Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population.Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer Clinical applications of next generation sequencing in cancer: from panels, to exomes, to genomes.Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer.Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management.Availability and payer coverage of BRCA1/2 tests and gene panels.A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2.

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Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment

http://www.wikidata.org/entity/Q33796155

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2014 nî lūn-bûn

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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2014 թվականի ապրիլին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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JCO.2013.53.6607

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Journal of Clinical Oncology

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Clinical evaluation of a multi ...... editary cancer risk assessment

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Alice S Whittemore

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Allison W Kurian

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Emily E Hare

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Kerry E Kingham

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Lisa McPherson

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Meredith A Mills

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Michele Cargill

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Stephen E Lincoln

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Uri Ladabaum

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Valerie McGuire

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P2860

Palladin mutation causes familial pancreatic cancer and suggests a new cancer mechanism

An integrated map of genetic variation from 1,092 human genomes

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

dbSNP: the NCBI database of genetic variation

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations

Meta-analysis of BRCA1 and BRCA2 penetrance

Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome

Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis

Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH

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