{"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":"2026-09-01T10:44:54","modified_gmt":"2026-09-01T10:44:54","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<!-- Scoped Styles Block (Isolated, Reinforced and Scaled to 14px) -->\n<style>\n    \/* Corporate font import *\/\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    \/* Isolated Main Container *\/\n    .dlw-prod-wrapper {\n        font-family: 'Raleway', sans-serif !important;\n        color: #000000 !important;\n      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for hereditary cancer use capture-based NGS technology to achieve uniform coverage of target regions and high <em>on-target<\/em> rates. The analytical workflow is supported by SOPHiA DDM and Alamut Visual Plus, enabling the detection of complex genomic variants and efficient data interpretation.<\/p>\n\n    <p>This combination provides high-quality variant calling and annotation, pathogenicity preclassification based on ACMG guidelines, and filtering and prioritisation tools through to final report generation.<\/p>\n\n    <!-- Solution Accordions -->\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\n        <div class=\"dlw-accordion-content\">\n            <p>The panel analyses 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-esp.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\n        <div class=\"dlw-accordion-content\">\n            <p>The panel includes a total of <strong>83 biologically relevant genes<\/strong> associated with the most important cancer predisposition syndromes, together with enhanced regions for sequencing promoter regions in the APC, BRCA1, BRCA2, FAM157A, GREM1, MLH1, NTHL1, PTEN, SPINK1 and TERT genes.<\/p>\n\n            <p>The panel also includes specific probes for capturing SNPs, enabling sample traceability.<\/p>\n\n            <img decoding=\"async\" src=\"https:\/\/www.dlongwood.com\/wp-content\/uploads\/2026\/04\/2-esp.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\n        <div class=\"dlw-accordion-content\">\n            <p>The <strong>CE-IVD-marked<\/strong> panel includes 26 genes and 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-esp.webp\" alt=\"SOPHiA Dx HCS\" class=\"dlw-prod-img\" title=\"\">\n        <\/div>\n    <\/details>\n\n    <!-- TAB 4 -->\n    <details class=\"dlw-accordion\">\n        <summary class=\"dlw-accordion-header\">SOPHiA GENETICS&#x2122; Custom Panel HCS_74 genes<\/summary>\n\n        <div class=\"dlw-accordion-content\">\n            <p>Includes <strong>74 genes<\/strong> associated with hereditary cancer, 1 pseudogene (<em>PMS2CL<\/em>), 13 SNPs and 2 promoter regions (<em>APC<\/em> and <em>TERT<\/em>).<\/p>\n\n            <p><strong>Gene list:<\/strong><\/p>\n\n            <div class=\"dlw-gene-list\">\n                ABCC9, ACD, AIP, AKAP9, AKT1, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CACNA1D, CACNB2, CDH1, CDK4, CDKN2A, CHEK2, CTNNA1, DES, DICER1, DSP, EPCAM, FAM175A\/ABRAXAS1, FH, FLCN, GREM1, HABP2, HOXB13, KIF1B, MAX, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, PMS2CL, POLD1, POLE, POT1, PRKAR1A, PRSS1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SCG5, SCN5A, SDHA, SDHAF2, SDHB, SDHC, SDHD, SGCD, SLC45A2, SMAD4, SMARCB1, STK11, SUFU, TERF2IP, TERT, TMEM127, TMEM43, TNNT2, TP53, TPM1, UTY, VCL, VHL, XRCC2\n            <\/div>\n        <\/div>\n    <\/details>\n\n    <!-- Operating Principle -->\n    <h2>Operating Principle<\/h2>\n\n    <p>These kits are based on targeted capture enrichment followed by sequencing on different NGS platforms. Secondary and tertiary analyses are performed using the SOPHiA DDM&#x2122; platform, which enables the detection of all types of genomic variants\u2014including SNVs, indels and CNVs\u2014with 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    <!-- Clinical Applications -->\n    <h2>Clinical Applications<\/h2>\n\n    <p>Hereditary cancer panel solutions are essential tools in clinical practice for identifying genetic alterations associated with cancer predisposition syndromes. These solutions enable efficient and accurate detection of the most relevant variants, facilitating rapid diagnosis and informed therapeutic decision-making.<\/p>\n\n    <p>By focusing on key mutations associated with different types of cancer, these panels provide a cost-effective and highly specific option for personalising patient prevention, monitoring and treatment, thereby improving clinical outcomes.<\/p>\n\n    <!-- Benefits -->\n    <h2>Benefits<\/h2>\n\n    <div class=\"dlw-list\">\n        <span class=\"dlw-list-item\"><strong>Genomic variant assessment and reporting:<\/strong> SNVs, indels and CNVs, as well as more complex alterations such as Alu insertions, Boland inversion and the PMS2\/PMS2CL gene conversion module, enabling variants to be distinguished between these two highly homologous genes.<\/span>\n\n        <span class=\"dlw-list-item\"><strong>Data storage:<\/strong> Unlimited access to data on the SOPHiA DDM&#x2122; platform, in compliance with the highest encryption standards and data security policies.<\/span>\n\n        <span class=\"dlw-list-item\"><strong>Support programme<\/strong> providing specialised assistance during implementation and follow-up for the rapid resolution of incidents.<\/span>\n\n        <span class=\"dlw-list-item\"><strong>Comprehensive analysis<\/strong> through an integrated workflow, from library preparation to final report generation.<\/span>\n\n        <span class=\"dlw-list-item\"><strong>Advanced analytical performance:<\/strong> Improves data interpretation through cascading filters, variant preclassification according to ACMG guidelines, integration with the leading genomic databases and additional tools such as the Alamut&#x2122; Visual Plus browser for more in-depth genomic analysis.<\/span>\n    <\/div>\n\n    <!-- Intended Audience\/User -->\n    <h2>Intended Audience \/ User<\/h2>\n\n    <p>For professional use by healthcare professionals to support clinical decisions related to cancer predisposition syndromes, assisting with diagnosis and genetic counselling in familial cases.<\/p>\n\n    <!-- Key Features -->\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\"><\/path><\/svg>\n            <span>Pre-designed panels <strong>validated by experts<\/strong> in cancer predisposition syndromes.<\/span>\n        <\/div>\n\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\"><\/path><\/svg>\n            <span>High <strong>coverage uniformity<\/strong> across the genomic regions included in each panel, ensuring advanced analytical performance.<\/span>\n        <\/div>\n\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\"><\/path><\/svg>\n            <span><strong>Integrated detection<\/strong> of all variant types in a single experiment.<\/span>\n        <\/div>\n\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\"><\/path><\/svg>\n            <span>Efficient variant annotation using <strong>&gt;55 databases<\/strong>, ACMG preclassification and machine-learning tools.<\/span>\n        <\/div>\n\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\"><\/path><\/svg>\n            <span>Streamlined interpretation limited to the genes of interest through <strong>virtual panel creation and cascading filters<\/strong>, through to the generation of a standardised clinical report.<\/span>\n        <\/div>\n\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\"><\/path><\/svg>\n            <span>Option to <strong>automate protocols<\/strong> for rapid clinical implementation and optimised sample management.<\/span>\n        <\/div>\n    <\/div>\n\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Solutions for the analysis 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 is supported by [&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":2,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos\/26988\/revisions"}],"predecessor-version":[{"id":28324,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos\/26988\/revisions\/28324"}],"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}]}}