Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
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Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing.Clinical analysis and prognosis of synchronous and metachronous multiple primary malignant tumorsA unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.Male breast cancer in a multi-gene panel testing cohort: insights and unexpected resultsThe transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.Risk of subsequent primary malignancies among patients with prior colorectal cancer: a population-based cohort study.DNA sequencing technologies: 2006-2016.Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program.Family-Specific Variants and the Limits of Human Genetics.Next generation sequencing in cancer: opportunities and challenges for precision cancer medicine.The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.A novel molecular diagnostics platform for somatic and germline precision oncology.Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk.Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.Germline BRCA2 mutations detected in pediatric sequencing studies impact parents' evaluation and care.The impact of hereditary cancer gene panels on clinical care and lessons learned.Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer.Expanding the spectrum of germline variants in cancer.Clinical implications of germline mutations in breast cancer: TP53.Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls.Prediction of breast cancer risk based on flow-variant analysis of circulating peripheral blood B cells.Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.Inherited Cancer in the Age of Next-Generation Sequencing.Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer.Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing.Identification of genetic variants for clinical management of familial colorectal tumors.Preoperative Panel Testing for Hereditary Cancer Syndromes Does Not Significantly Impact Time to Surgery for Newly Diagnosed Breast Cancer Patients Compared with BRCA1/2 Testing.Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients.Inherited DNA-Repair Defects in Colorectal Cancer.High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population.Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.Recent advances in colorectal cancer screeningNovel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predispositionComprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility
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Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 17 December 2015
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Pathogenic and likely pathogen ...... eneration cancer panel testing
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Pathogenic and likely pathogen ...... neration cancer panel testing.
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type
label
Pathogenic and likely pathogen ...... eneration cancer panel testing
@en
Pathogenic and likely pathogen ...... neration cancer panel testing.
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prefLabel
Pathogenic and likely pathogen ...... eneration cancer panel testing
@en
Pathogenic and likely pathogen ...... neration cancer panel testing.
@nl
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Pathogenic and likely pathogen ...... eneration cancer panel testing
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Erica M Vaccari
Federica Gibellini
Gabi Richard
Guido D Pollevick
Jessica K Booker
Kathleen S Hruska
Kristen J Vogel Postula
Lauren Yackowski
M Laura Cremona
Patricia D Murphy
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10.1038/GIM.2015.166
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P577
2015-12-17T00:00:00Z