{"id":26988,"date":"2025-10-06T10:20:16","date_gmt":"2025-10-06T10:20:16","guid":{"rendered":"https:\/\/www.dlongwood.com\/?post_type=productos&#038;p=26988"},"modified":"2026-04-09T09:27:40","modified_gmt":"2026-04-09T09:27:40","slug":"hereditary-cancer-solutions-by-sophia-genetics%ef%b8%8f","status":"publish","type":"productos","link":"https:\/\/www.dlongwood.com\/en\/product-catalog\/hereditary-cancer-solutions-by-sophia-genetics%ef%b8%8f\/","title":{"rendered":"Hereditary cancer solutions by SOPHiA GENETICS&#x2122;&#xfe0f;"},"content":{"rendered":"\n<!-- Bloque de Estilos Scoped (Aislados, Blindados y Escalados a 14px) -->\n<style>\n    \/* Importaci\u00f3n de fuentes corporativas *\/\n    @import url('https:\/\/fonts.googleapis.com\/css2?family=Playfair+Display:ital,wght@0,400;0,700;1,400&family=Raleway:wght@300;400;500;600;700&display=swap');\n\n    \/* Contenedor Principal Aislado *\/\n    .dlw-prod-wrapper {\n        font-family: 'Raleway', sans-serif !important;\n        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class=\"dlw-prod-wrapper\">\n\n    <!-- Descripci\u00f3n Corta (Lead Box) -->\n    <div class=\"dlw-lead-box\">\n        <p>Solutions for the study of genetic alterations associated with different hereditary cancer predisposition syndromes, based on next-generation sequencing and automated analysis using the <strong>SOPHiA DDM&#x2122;<\/strong> software.<\/p>\n    <\/div>\n\n    <!-- Descripci\u00f3n Detallada -->\n    <h2>Detailed Description<\/h2>\n    <p><strong>SOPHiA GENETICS&#x2122;&#xfe0f;<\/strong> solutions for hereditary cancer use capture-based NGS technology to achieve uniform coverage of target regions and high on-target rates. The analytical workflow relies on SOPHiA DDM and Alamut Visual Plus, enabling the detection of complex genomic variants and efficient data interpretation.<\/p>\n    \n    <p>This combination achieves high-quality variant calling and annotation, pre-classification of pathogenicity based on ACMG guidelines, and filtering\/prioritization tools leading up to the generation of the final report.<\/p>\n\n    <!-- Acordeones de Soluciones -->\n    <h2>Available Panels<\/h2>\n\n    <!-- TAB 1 -->\n    <details class=\"dlw-accordion\">\n        <summary class=\"dlw-accordion-header\">SOPHiA GENETICS&#x2122;&#xfe0f; Comprehensive HCS_117 Community Panel<\/summary>\n        <div class=\"dlw-accordion-content\">\n            <p>The panel analyzes a total of <strong>117 genes<\/strong> associated with hereditary cancer predisposition:<\/p>\n            \n            <div class=\"dlw-gene-list\">\n                ACD, AIP, AKT1, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK2, CREBBP, CTNNA1, DICER1, DIS3L2, EGFR, EGLN1, EPCAM, ERBB2, ERCC2, EXT1, EXT2, FANCC, FANCG, FANCM, FH, FLCN, GALNT12, GATA2, GREM1, HNF1A, HOXB13, HRAS, KIF1B, KIT, LZTR1, MAX, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRKAR1A, PRSS1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RHBDF2, RNF43, RPS20, RUNX1, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC, XRCC2, YAP1\n            <\/div>\n            \n            <img decoding=\"async\" src=\"https:\/\/www.dlongwood.com\/wp-content\/uploads\/2026\/04\/1.webp\" alt=\"SOPHiA Comprehensive HCS 117\" class=\"dlw-prod-img\" title=\"\">\n        <\/div>\n    <\/details>\n\n    <!-- TAB 2 -->\n    <details class=\"dlw-accordion\">\n        <summary class=\"dlw-accordion-header\">SOPHiA DDM&#x2122; Hereditary Cancer Solution (HCS) v2.0<\/summary>\n        <div class=\"dlw-accordion-content\">\n            <p>The panel includes a total of <strong>83 biologically relevant genes<\/strong> associated with major cancer predisposition syndromes, along with reinforced areas to sequence promoter regions in the APC, BRCA1, BRCA2, FAM157A, GREM1, MLH1, NTHL1, PTEN, SPINK1, and TERT genes.<\/p>\n            <p>Additionally, the panel features specific probes to capture SNPs that enable sample traceability.<\/p>\n            \n            <img decoding=\"async\" src=\"https:\/\/www.dlongwood.com\/wp-content\/uploads\/2026\/04\/2.webp\" alt=\"SOPHiA HCS v2.0\" class=\"dlw-prod-img\" title=\"\">\n        <\/div>\n    <\/details>\n\n    <!-- TAB 3 -->\n    <details class=\"dlw-accordion\">\n        <summary class=\"dlw-accordion-header\">SOPHiA DDM&#x2122; Dx Hereditary Cancer Solution (HCS)<\/summary>\n        <div class=\"dlw-accordion-content\">\n            <p>The <strong>CE-IVD marked<\/strong> panel includes 26 genes + 1 pseudogene:<\/p>\n            \n            <div class=\"dlw-gene-list\">\n                ABRAXAS1, APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, PMS2CL (pseudogene), PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, XRCC2.\n            <\/div>\n\n            <img decoding=\"async\" src=\"https:\/\/www.dlongwood.com\/wp-content\/uploads\/2026\/04\/3.webp\" alt=\"SOPHiA Dx HCS\" class=\"dlw-prod-img\" title=\"\">\n        <\/div>\n    <\/details>\n\n    <!-- Principio de funcionamiento -->\n    <h2>Operating Principle<\/h2>\n    <p>These kits are based on targeted capture enrichment techniques and subsequent sequencing on various NGS instruments. Secondary and tertiary analysis is performed on the SOPHiA DDM&#x2122; platform, which enables the detection of all types of genomic variants (SNVs, indels, and CNVs) with highly efficient clinical performance.<\/p>\n    \n    <img decoding=\"async\" src=\"https:\/\/www.dlongwood.com\/wp-content\/uploads\/2026\/04\/4.webp\" alt=\"SOPHiA Hereditary Cancer Workflow\" class=\"dlw-prod-img\" title=\"\">\n\n    <!-- Aplicaciones cl\u00ednicas -->\n    <h2>Clinical Applications<\/h2>\n    <p>Hereditary cancer panel solutions are fundamental tools in clinical practice for identifying genetic alterations associated with oncology predisposition syndromes. These solutions enable efficient and precise detection of the most relevant variants, facilitating rapid diagnoses and informed therapeutic decision-making.<\/p>\n    <p>By focusing on key mutations related to various types of cancer, the panels offer a cost-effective and highly specific option to personalize patient prevention, monitoring, and treatment, thereby improving clinical outcomes.<\/p>\n\n    <!-- Beneficios -->\n    <h2>Benefits<\/h2>\n    <div class=\"dlw-list\">\n        <span class=\"dlw-list-item\"><strong>Evaluation and reporting of genomic variants:<\/strong> SNVs, Indels, CNVs, as well as more complex alterations such as Alu insertions, Boland inversion, and a PMS2\/PMS2CL gene conversion module, to differentiate variants between these two highly homologous genes.<\/span>\n        <span class=\"dlw-list-item\"><strong>Data storage:<\/strong> Unlimited data access on the SOPHiA DDM&#x2122; platform, complying with the highest encryption standards and data security policies.<\/span>\n        <span class=\"dlw-list-item\"><strong>Support program<\/strong> with specialized guidance during implementation and follow-up for rapid issue resolution.<\/span>\n        <span class=\"dlw-list-item\"><strong>Comprehensive analysis<\/strong> with an integrated workflow: from library preparation to report generation.<\/span>\n        <span class=\"dlw-list-item\"><strong>Advanced analytical performance:<\/strong> Improves data interpretation through the application of cascade filters, pre-classification of variants according to ACMG guidelines, integration with major genomic databases, and additional tools like the Alamut&#x2122; Visual Plus browser for deeper genomic analysis.<\/span>\n    <\/div>\n\n    <!-- P\u00fablico\/usuario previsto -->\n    <h2>Intended Audience \/ User<\/h2>\n    <p>Professional use to support healthcare professionals in informing clinical decisions related to cancer predisposition syndromes, aiding in the diagnosis and genetic counseling of familial cases.<\/p>\n\n    <!-- Aspectos Clave -->\n    <h2>Key Features<\/h2>\n    \n    <div class=\"dlw-check-list\">\n        <div class=\"dlw-check-item\">\n            <svg class=\"dlw-check-icon\" viewBox=\"0 0 24 24\"><path d=\"M12 2C6.48 2 2 6.48 2 12s4.48 10 10 10 10-4.48 10-10S17.52 2 12 2zm-2 15l-5-5 1.41-1.41L10 14.17l7.59-7.59L19 8l-9 9z\"\/><\/svg>\n            <span>Pre-designed panels <strong>validated by experts<\/strong> in cancer predisposition syndromes.<\/span>\n        <\/div>\n        <div class=\"dlw-check-item\">\n            <svg class=\"dlw-check-icon\" viewBox=\"0 0 24 24\"><path d=\"M12 2C6.48 2 2 6.48 2 12s4.48 10 10 10 10-4.48 10-10S17.52 2 12 2zm-2 15l-5-5 1.41-1.41L10 14.17l7.59-7.59L19 8l-9 9z\"\/><\/svg>\n            <span>High <strong>coverage uniformity<\/strong> of the genomic regions included in each panel, ensuring advanced analytical performance.<\/span>\n        <\/div>\n        <div class=\"dlw-check-item\">\n            <svg class=\"dlw-check-icon\" viewBox=\"0 0 24 24\"><path d=\"M12 2C6.48 2 2 6.48 2 12s4.48 10 10 10 10-4.48 10-10S17.52 2 12 2zm-2 15l-5-5 1.41-1.41L10 14.17l7.59-7.59L19 8l-9 9z\"\/><\/svg>\n            <span><strong>Integrated detection<\/strong> of all variant types in a single experiment.<\/span>\n        <\/div>\n        <div class=\"dlw-check-item\">\n            <svg class=\"dlw-check-icon\" viewBox=\"0 0 24 24\"><path d=\"M12 2C6.48 2 2 6.48 2 12s4.48 10 10 10 10-4.48 10-10S17.52 2 12 2zm-2 15l-5-5 1.41-1.41L10 14.17l7.59-7.59L19 8l-9 9z\"\/><\/svg>\n            <span>Efficient variant annotation using <strong>>55 databases<\/strong>, ACMG pre-classification, and machine-learning tools.<\/span>\n        <\/div>\n        <div class=\"dlw-check-item\">\n            <svg class=\"dlw-check-icon\" viewBox=\"0 0 24 24\"><path d=\"M12 2C6.48 2 2 6.48 2 12s4.48 10 10 10 10-4.48 10-10S17.52 2 12 2zm-2 15l-5-5 1.41-1.41L10 14.17l7.59-7.59L19 8l-9 9z\"\/><\/svg>\n            <span>Agile interpretation limited to the genes of interest through the <strong>creation of virtual panels and cascade filters<\/strong>, up to the generation of a standardized clinical report.<\/span>\n        <\/div>\n        <div class=\"dlw-check-item\">\n            <svg class=\"dlw-check-icon\" viewBox=\"0 0 24 24\"><path d=\"M12 2C6.48 2 2 6.48 2 12s4.48 10 10 10 10-4.48 10-10S17.52 2 12 2zm-2 15l-5-5 1.41-1.41L10 14.17l7.59-7.59L19 8l-9 9z\"\/><\/svg>\n            <span>Possibility of <strong>protocol automation<\/strong> for rapid clinical implementation and optimized sample management.<\/span>\n        <\/div>\n    <\/div>\n\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Solutions for the study of genetic alterations associated with different hereditary cancer predisposition syndromes, based on next-generation sequencing and automated analysis using the SOPHiA DDM&#x2122; software. Detailed Description SOPHiA GENETICS&#x2122;&#xfe0f; solutions for hereditary cancer use capture-based NGS technology to achieve uniform coverage of target regions and high on-target rates. The analytical workflow relies on SOPHiA [&hellip;]<\/p>\n","protected":false},"featured_media":26997,"template":"","tecnologias":[36],"marcas":[215],"familias":[283,445,441],"class_list":["post-26988","productos","type-productos","status-publish","has-post-thumbnail","hentry","tecnologias-next-generation-sequencing-ngs","marcas-sophia-genetics-en","familias-molecular-genetics","familias-hereditary_cancer","familias-targeted_study_of_specific_pathologies"],"_links":{"self":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos\/26988","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos"}],"about":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/types\/productos"}],"version-history":[{"count":1,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos\/26988\/revisions"}],"predecessor-version":[{"id":26999,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos\/26988\/revisions\/26999"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/media\/26997"}],"wp:attachment":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/media?parent=26988"}],"wp:term":[{"taxonomy":"tecnologias","embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/tecnologias?post=26988"},{"taxonomy":"marcas","embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/marcas?post=26988"},{"taxonomy":"familias","embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/familias?post=26988"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}