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multigene panel hereditary cancer solution hcs v1 1  (Sophia Genetics)


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    Structured Review

    Sophia Genetics multigene panel hereditary cancer solution hcs v1 1
    Multigene Panel Hereditary Cancer Solution Hcs V1 1, supplied by Sophia Genetics, used in various techniques. Bioz Stars score: 97/100, based on 360 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/multigene/Hereditary+cancers/pmc12759264-41-10-18
    Average 97 stars, based on 360 article reviews
    multigene panel hereditary cancer solution hcs v1 1 - by Bioz Stars, 2026-09
    97/100 stars

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    Related Articles

    Next-Generation Sequencing:

    Article Title: Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield
    Article Snippet: Fluorometric quantification of nucleic acids was carried out with a Qubit dsDNA High Sensitivity kit (Thermo Scientific, Waltham, Massachusetts, United States). .. The entire study population was tested using the CE‐IVD NGS‐based multigene panel Hereditary Cancer Solution (HCS) v1.1, by SOPHiA GENETICS (Sophia Genetics, Lausanne, Switzerland). ..

    Article Title: Prevalence of Pathogenic or Likely Pathogenic Germline Variants in Cancer Predisposition Genes Among Patients With Lung Adenocarcinoma
    Article Snippet: Total DNA (tDNA) will be extracted using the DNAeasy Blood \& Tissue (Qiagen) kit. .. Likewise, for the determination of pathogenic variants, the Sophia HCS Community panels (Sophia genetics) will be used to carry out Next-generation (NGS) sequencing in a NextSeq 550 (Illumina) platform. ..

    Article Title: Dual radiation-induced sarcomas after breast cancer in a TP53 variant carrier.
    Article Snippet: Li–Fraumeni syndrome (LFS), first described by Li and Fraumeni [1], is a rare autosomal dominant condition caused by variants in the TP53 gene, commonly designated as the “guardian of the genome” [2].. The protein encoded by this gene, p53, was identified in 1979 [3].. This protein plays a critical role in maintaining genomic integrity by regulating cell cycle checkpoints and inducing arrest in response Abbreviations LFS Li–Fraumeni Syndrome RT Radiotherapy CT Chemotherapy RIM Radiation-induced malignancies DSB Double-strand DNA break

    Sequencing:

    Article Title: New Insights from the Expression of the Mismatch Repair System in Pituitary Neuroendocrine Tumors.
    Article Snippet: .. Experiments were performed on Illumina NextSeq 550 System (San Diego, CA) using: (1) for gDNA (n=3), the SOPHiA DDMTM Hereditary Cancer Solution – covering the coding regions and splicing junctions of genes associated with LS (the four key MMR genes and EPCAM) – and SOPHiA DDM software for annotation, alignment of sequence on the reference genome GRCh38 and selection of potentially pathogenic variants, (2) for tDNA, (n=2) the OncoDEEP panel – targeting relevant genes involved in tumorigenesis including MMR and TP53, as well as regions associated with loss of heterozygosity (LOH) in tumor suppressor genes. ..

    Article Title: New Insights from the Expression of the Mismatch Repair System in Pituitary Neuroendocrine Tumors
    Article Snippet: .. Experiments were performed on Illumina NextSeq 550 System (San Diego, CA) using: (1) for gDNA ( n =3), the SOPHiA DDMTM Hereditary Cancer Solution – covering the coding regions and splicing junctions of genes associated with LS (the four key MMR genes and EPCAM ) – and SOPHiA DDM software for annotation, alignment of sequence on the reference genome GRCh38 and selection of potentially pathogenic variants, (2) for tDNA, ( n =2) the OncoDEEP panel – targeting relevant genes involved in tumorigenesis including MMR and TP53 , as well as regions associated with loss of heterozygosity (LOH) in tumor suppressor genes. ..

    Article Title: Prevalence of Pathogenic or Likely Pathogenic Germline Variants in Cancer Predisposition Genes Among Patients With Lung Adenocarcinoma
    Article Snippet: Total DNA (tDNA) will be extracted using the DNAeasy Blood \& Tissue (Qiagen) kit. .. Likewise, for the determination of pathogenic variants, the Sophia HCS Community panels (Sophia genetics) will be used to carry out Next-generation (NGS) sequencing in a NextSeq 550 (Illumina) platform. ..

    Article Title: Dual radiation-induced sarcomas after breast cancer in a TP53 variant carrier.
    Article Snippet: Li–Fraumeni syndrome (LFS), first described by Li and Fraumeni [1], is a rare autosomal dominant condition caused by variants in the TP53 gene, commonly designated as the “guardian of the genome” [2].. The protein encoded by this gene, p53, was identified in 1979 [3].. This protein plays a critical role in maintaining genomic integrity by regulating cell cycle checkpoints and inducing arrest in response Abbreviations LFS Li–Fraumeni Syndrome RT Radiotherapy CT Chemotherapy RIM Radiation-induced malignancies DSB Double-strand DNA break

    Selection:

    Article Title: New Insights from the Expression of the Mismatch Repair System in Pituitary Neuroendocrine Tumors.
    Article Snippet: .. Experiments were performed on Illumina NextSeq 550 System (San Diego, CA) using: (1) for gDNA (n=3), the SOPHiA DDMTM Hereditary Cancer Solution – covering the coding regions and splicing junctions of genes associated with LS (the four key MMR genes and EPCAM) – and SOPHiA DDM software for annotation, alignment of sequence on the reference genome GRCh38 and selection of potentially pathogenic variants, (2) for tDNA, (n=2) the OncoDEEP panel – targeting relevant genes involved in tumorigenesis including MMR and TP53, as well as regions associated with loss of heterozygosity (LOH) in tumor suppressor genes. ..

    Article Title: New Insights from the Expression of the Mismatch Repair System in Pituitary Neuroendocrine Tumors
    Article Snippet: .. Experiments were performed on Illumina NextSeq 550 System (San Diego, CA) using: (1) for gDNA ( n =3), the SOPHiA DDMTM Hereditary Cancer Solution – covering the coding regions and splicing junctions of genes associated with LS (the four key MMR genes and EPCAM ) – and SOPHiA DDM software for annotation, alignment of sequence on the reference genome GRCh38 and selection of potentially pathogenic variants, (2) for tDNA, ( n =2) the OncoDEEP panel – targeting relevant genes involved in tumorigenesis including MMR and TP53 , as well as regions associated with loss of heterozygosity (LOH) in tumor suppressor genes. ..

    Mutagenesis:

    Article Title: Dual radiation-induced sarcomas after breast cancer in a TP53 variant carrier.
    Article Snippet: Li–Fraumeni syndrome (LFS), first described by Li and Fraumeni [1], is a rare autosomal dominant condition caused by variants in the TP53 gene, commonly designated as the “guardian of the genome” [2].. The protein encoded by this gene, p53, was identified in 1979 [3].. This protein plays a critical role in maintaining genomic integrity by regulating cell cycle checkpoints and inducing arrest in response Abbreviations LFS Li–Fraumeni Syndrome RT Radiotherapy CT Chemotherapy RIM Radiation-induced malignancies DSB Double-strand DNA break

    Variant Assay:

    Article Title: Dual radiation-induced sarcomas after breast cancer in a TP53 variant carrier.
    Article Snippet: Li–Fraumeni syndrome (LFS), first described by Li and Fraumeni [1], is a rare autosomal dominant condition caused by variants in the TP53 gene, commonly designated as the “guardian of the genome” [2].. The protein encoded by this gene, p53, was identified in 1979 [3].. This protein plays a critical role in maintaining genomic integrity by regulating cell cycle checkpoints and inducing arrest in response Abbreviations LFS Li–Fraumeni Syndrome RT Radiotherapy CT Chemotherapy RIM Radiation-induced malignancies DSB Double-strand DNA break

    Multiplex Ligation-dependent Probe Amplification:

    Article Title: Dual radiation-induced sarcomas after breast cancer in a TP53 variant carrier.
    Article Snippet: Li–Fraumeni syndrome (LFS), first described by Li and Fraumeni [1], is a rare autosomal dominant condition caused by variants in the TP53 gene, commonly designated as the “guardian of the genome” [2].. The protein encoded by this gene, p53, was identified in 1979 [3].. This protein plays a critical role in maintaining genomic integrity by regulating cell cycle checkpoints and inducing arrest in response Abbreviations LFS Li–Fraumeni Syndrome RT Radiotherapy CT Chemotherapy RIM Radiation-induced malignancies DSB Double-strand DNA break

    In Silico:

    Article Title: Dual radiation-induced sarcomas after breast cancer in a TP53 variant carrier.
    Article Snippet: Li–Fraumeni syndrome (LFS), first described by Li and Fraumeni [1], is a rare autosomal dominant condition caused by variants in the TP53 gene, commonly designated as the “guardian of the genome” [2].. The protein encoded by this gene, p53, was identified in 1979 [3].. This protein plays a critical role in maintaining genomic integrity by regulating cell cycle checkpoints and inducing arrest in response Abbreviations LFS Li–Fraumeni Syndrome RT Radiotherapy CT Chemotherapy RIM Radiation-induced malignancies DSB Double-strand DNA break



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