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Multiplex digital PCR assays were developed to detect and quantify ERBB2 mutations in circulating tumor DNA from liquid biopsies. Plasma from 272 HR+/HER2− metastatic breast cancer patients was analyzed for 17 ERBB2 mutations using a screening assay on the Crystal dPCR™ naica® platform. Nine patients (3.3%) carried at least one mutation, with higher rates in lobular histology (5.9%) versus IBC-NST (2.6%).",{"@graph":69,"@context":123},[70,84,106],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":40,"@type":76,"position":81},"https://docshare.wps.com/document/research-report/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/plasma-based-analysis-of-erbb2-mutational-status-by-multiplex-digital-pcr-in-a-large-series-of-patients-with-metastatic-breast-cancer/331510/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/plasma-based-analysis-of-erbb2-mutational-status-by-multiplex-digital-pcr-in-a-large-series-of-patients-with-metastatic-breast-cancer/331510.png","ImageObject",300,407,{"name":92,"@type":93},"Eden","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-03","2026-09-21",true,{"@type":102,"interactionType":103,"userInteractionCount":105},"InteractionCounter",{"@type":104},"ViewAction",12,{"@type":107,"mainEntity":108},"FAQPage",[109,115,119],{"name":110,"@type":111,"acceptedAnswer":112},"What was the main purpose of the study?","Question",{"text":113,"@type":114},"To develop multiplex digital PCR assays for detecting and quantifying ERBB2 mutations in circulating tumor DNA from plasma liquid biopsies, and to evaluate them in a large metastatic breast cancer patient series.","Answer",{"name":116,"@type":111,"acceptedAnswer":117},"How many ERBB2 mutations and patients were analyzed?",{"text":118,"@type":114},"The study screened 272 metastatic breast cancer patients for 17 ERBB2 mutations using a plasma-based screening assay.",{"name":120,"@type":111,"acceptedAnswer":121},"What were the key findings about ERBB2 mutation rates?",{"text":122,"@type":114},"ERBB2 mutations were found in 3.3% of patients overall, with a higher mutation rate in lobular histology (5.9%) than in invasive breast carcinoma of no special type (2.6%), and matching tumor samples showed 83% concordance.","https://schema.org",{"og:url":83,"og:type":125,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":127,"canonical":83},"index,follow",{"doc_id":129,"site_id":62},331510,1790002384,{"code":4,"msg":5,"data":132},{"doc_id":129,"user_id":133,"nickname":92,"user_avatar":134,"doc_module":4,"category_id":39,"category_name":40,"doc_title":65,"doc_description":67,"doc_content":135,"file_id":136,"file_url":137,"file_type":138,"file_size":139,"view_count":105,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":140,"language":141,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":142,"faqs":143,"seo_title":144,"seo_description":67,"update_tm":145,"read_time":36,"preview_page_count":4},1374391974468,"https://ap-avatar.wpscdn.com/davatar_29158cc5080c5b710cf443261637dec0","Plasma-based analysis of ERBB2 mutational status by multiplex digital PCR in a large series of patients with metastatic breast cancer  \nJulien Corn´e1 , V´eronique Quillien 1,2,3, Florence Godey 1,2,3, Mathilde Cherel 1, Agathe Cochet2, Fanny Le Du2, Lucie Robert2, H´eloı¨se Bourien2, Ang´elique Brunot2, Laurence Crouzet2, Christophe Perrin2, Claudia Lefeuvre-Plesse2, V´eronique Di´eras2 and Thibault De la Motte Rouge2  \n1 Department of Biology, Centre Eug`ene Marquis, Unicancer, Rennes, France  \n2 Department of Medical Oncology, Centre Eug`ene Marquis, Unicancer, Rennes, France  \n3 INSERM U1242, University of Rennes, France  \nKeywords  \ncirculating tumor DNA; ERBB2; liquid biopsies; metastatic breast cancer; multiplex digital PCR; plasma  \nCorrespondence  \nJ. Corn´e, Centre Eug`ene Marquis, Avenue de la Bataille Flandres Dunkerque, CS 44229, 35042 Rennes, France  \nFax: +33 299253164  \nTel: +33 299253192  \nE-mail: [j.corne@rennes.unicancer.fr](j.corne@rennes.unicancer.fr)  \n(Received 7 August 2023, revised 16  \nNovember 2023, accepted 15 January 2024, available online 29 January 2024)  \ndoi:10 . 1002/1878-0261 .13592  \nErb-b2 receptor tyrosine kinase 2 (ERBB2)-activating mutations are therapeutically actionable alterations found in various cancers, including metastatic breast cancer (MBC) . We developed multiplex digital PCR assays to detect and quantify ERBB2 mutations in circulating tumor DNA from liquid biopsies. We studied the plasma from 272 patients with hormone-receptorpositive, human epidermal growth factor receptor 2-negative (HR+/HER2􀀁) MBC to detect 17 ERBB2 mutations using a screening assay. The assay was developed on the three-color Crystal dPCR™ naica® platform with a twostep strategy for precise mutation identification. We found that nine patients (3 . 3%) harbored at least one ERBB2 mutation. The mutation rate was higher in patients with lobular histology (5 .9%) compared to invasive breast carcinoma of no special type (2 .6%) . A total of 12 mutations were found with the following frequencies: L755S (25.00%), V777L (25.00%), S310Y (16.67%), L869R (16 .67%), S310F (8 . 33%), and D769H (8 . 33%) . Matched tumor samples from six patients identified the same mutations with an 83% concordance rate. In summary, our highly sensitive multiplex digital PCR assays are well suited for plasma-based monitoring of ERBB2 mutational status inpatients with MBC.  \n1. Introduction  \nHuman epidermal growth factor receptor 2 (HER2) is encoded by the Erb-b2 receptor tyrosine kinase 2 (ERBB2) gene. HER2 is a common oncogenic driver in breast cancer and a major drug target. Most  \nderegulation of HER2 signaling is caused by HER2/ERBB2 amplification but activating mutations leading to constitutive HER2 signaling can also occur, both in patients with hormone receptor (HR)-positive, HER2-negative or HR+/HER2+ metastatic breast cancer (MBC), with different mutation landscapes  \nAbbreviations  \ncfDNA, circulating cell-free DNA; COSMIC, Catalogue of Somatic Mutations in Cancer; ctDNA, circulating tumor DNA; CV, coefficient of variation; DO, drop-off; dPCR, digital PCR; ER, estrogen receptor; ERBB2, Erb-b2 receptor tyrosine kinase 2; ESCAT, ESMO Scale for Clinical Actionability of Molecular Targets; ET, endocrine therapy; FFPE, formalin-fixed, paraffin-embedded; gBlock, gBlock gene fragments; gDNA, genomic DNA; HER2, human epidermal growth factor receptor 2; HGVS, Human Genome Variation Society; HR, hormone receptor; IBC-NST, invasive breast carcinoma of no special type; IDC, invasive ductal carcinoma; ILC, invasive lobular carcinoma; LOB, limit of blank; LOD, limit of detection; MAF, mutant allelic frequency; MBC, metastatic breast cancer; MUT, mutated; NF1, neurofibromin 1; NGS, nextgeneration sequencing; OS, overall survival; PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; REF, reference; SD, stable disease; WT, wild-type.  \n2714 Molecular Oncology 18 (2024) 2714–2729 ª 2024 The Authors. Molecular Oncology publis","cbCaihqUb5VcvMAX","https://ap.wps.com/l/cbCaihqUb5VcvMAX","pdf",2599335,16,"English","# Introduction\n## Development of multiplex digital PCR assay\n## ERBB2 mutational detection in patient plasma\n## Mutation frequencies and concordance with tumor samples","[{\"question\":\"What was the main purpose of the study?\",\"answer\":\"To develop multiplex digital PCR assays for detecting and quantifying ERBB2 mutations in circulating tumor DNA from plasma liquid biopsies, and to evaluate them in a large metastatic breast cancer patient series.\"},{\"question\":\"How many ERBB2 mutations and patients were analyzed?\",\"answer\":\"The study screened 272 metastatic breast cancer patients for 17 ERBB2 mutations using a plasma-based screening assay.\"},{\"question\":\"What were the key findings about ERBB2 mutation rates?\",\"answer\":\"ERBB2 mutations were found in 3.3% of patients overall, with a higher mutation rate in lobular histology (5.9%) than in invasive breast carcinoma of no special type (2.6%), and matching tumor samples showed 83% concordance.\"}]","Plasma-based analysis of ERBB2 mutational status by multiplex digital PCR in a large series of patients with metastatic breast cancer | PDF",1789993654]