{"entity": "researcher", "timestamp": "2026-08-20T20:50:32.209Z", "family": "Mathot", "given": "Lucy", "initials": "L", "orcid": "0000-0002-2990-2038", "affiliations": [], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/458c07a1748d4ce0ac5cff3d6836f350.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/458c07a1748d4ce0ac5cff3d6836f350"}}, "publications": [{"entity": "publication", "iuid": "78c76a7f70ac4e538725e7fd89e96a16", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/78c76a7f70ac4e538725e7fd89e96a16.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/78c76a7f70ac4e538725e7fd89e96a16"}}, "title": "Sensitive and Specific Analyses of Colorectal Cancer Recurrence through Multiplex superRCA Mutation Detection in Blood Plasma.", "authors": [{"family": "Sandberg", "given": "Emma", "initials": "E", "orcid": "0009-0003-5681-4417", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5f583a5882174325974058d4cb3b1a9e.json"}}, {"family": "Nunes", "given": "Lu\u00eds", "initials": "L", "orcid": "0000-0002-3391-1607", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7aa31ccf1801456bb57744978bd605fd.json"}}, {"family": "Edqvist", "given": "Per-Henrik", "initials": "PH"}, {"family": "Mathot", "given": "Lucy", "initials": "L", "orcid": "0000-0002-2990-2038", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/458c07a1748d4ce0ac5cff3d6836f350.json"}}, {"family": "Chen", "given": "Lei", "initials": "L"}, {"family": "Edgren", "given": "Tomas", "initials": "T"}, {"family": "Al Nassralla", "given": "Shahed", "initials": "S"}, {"family": "Glimelius", "given": "Bengt", "initials": "B", "orcid": "0000-0002-5440-791X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0a4a4dfe9cc6478baaaae4672181691c.json"}}, {"family": "Landegren", "given": "Ulf", "initials": "U", "orcid": "0000-0002-7820-1000", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8749cdcda45a43d8bb2df04b0b211f36.json"}}, {"family": "Sj\u00f6blom", "given": "Tobias", "initials": "T", "orcid": "0000-0001-6668-4140", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/851b95a56b3244fb9bc7cec8294e7ae7.json"}}], "type": "journal article", "published": "2024-01-27", "journal": {"title": "Cancers (Basel)", "issn": "2072-6694", "volume": "16", "issue": "3", "issn-l": "2072-6694"}, "abstract": "Mutation analysis of circulating tumor DNA (ctDNA) has applications in monitoring of colorectal cancer (CRC) patients for recurrence. Considering the low tumor fraction of ctDNA in cell-free DNA (cfDNA) isolated from blood plasma, the sensitivity of the detection method is important. Here, plasma DNA collected at diagnosis and follow-up from 25 CRC patients was analyzed using a multiplex superRCA mutation detection assay. The assay was also performed on genomic DNA (gDNA) from tumor and normal tissue from 20 of these patients. The lower limit of detection for most sequence variants was in the range of 10-5, while when analyzing cfDNA from plasma with a typical input of 33 ng, the practical detection limit was ~10-4 or 0.01% mutant allele frequency (MAF). In 17 of 19 patients with identified hotspot mutations in tumor gDNA, at least one hotspot mutation could be detected in plasma DNA at the time of diagnosis. The MAF increased at subsequent time points in four of the patients who experienced a clinical relapse. Multiplex superRCA analysis of the remaining six patients did not reveal any hotspot mutations. In conclusion, multiplex superRCA assays proved suitable for monitoring CRC patients by analyzing hotspot mutations in cfDNA, and dynamic changes in MAF were observed in patients with clinical relapse.", "doi": "10.3390/cancers16030549", "pmid": "38339300", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10854605"}, {"db": "pii", "key": "cancers16030549"}], "notes": [], "created": "2026-08-20T13:40:00.649Z", "modified": "2026-08-20T13:40:00.755Z"}, {"entity": "publication", "iuid": "90a7c6fc6eec4e15a7dd35e4ddc0754b", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/90a7c6fc6eec4e15a7dd35e4ddc0754b.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/90a7c6fc6eec4e15a7dd35e4ddc0754b"}}, "title": "Somatic Exonic Deletions in RUNX1 Constitutes a Novel Recurrent Genomic Abnormality in Acute Myeloid Leukemia.", "authors": [{"family": "Eriksson", "given": "Anna", "initials": "A", "orcid": "0000-0002-8853-1863", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d37bf77253344a92968b4adb46c6f98c.json"}}, {"family": "Engvall", "given": "Marie", "initials": "M", "orcid": "0000-0002-7394-9191", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6107a9ca9ba842be9054a00c747b47a8.json"}}, {"family": "Mathot", "given": "Lucy", "initials": "L", "orcid": "0000-0002-2990-2038", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/458c07a1748d4ce0ac5cff3d6836f350.json"}}, {"family": "\u00d6sterroos", "given": "Albin", "initials": "A", "orcid": "0000-0001-8749-7299", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aafab8cd17e94d52a3cdeaf86d3acfa6.json"}}, {"family": "Rippin", "given": "Martin", "initials": "M", "orcid": "0000-0003-4362-0122", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/06ef473951064c39ba0fbe0184244323.json"}}, {"family": "Cavelier", "given": "Lucia", "initials": "L", "orcid": "0009-0003-8195-370X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aa2064616ff6495cb32d646823f0f8fc.json"}}, {"family": "Ladenvall", "given": "Claes", "initials": "C", "orcid": "0000-0002-7501-6598", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1cfe5cbb5d454552bdcbc464238f88fb.json"}}, {"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a31997db1ee4ef1aaff75e423b8ccfb.json"}}], "type": "research support, non-u.s. gov't", "published": "2023-08-01", "journal": {"title": "Clin. Cancer Res.", "issn": "1557-3265", "volume": "29", "issue": "15", "pages": "2826-2834", "issn-l": "1078-0432"}, "abstract": "In acute myeloid leukemia (AML), somatic mutations (commonly missense, nonsense, and frameshift indels) in RUNX1 are associated with a dismal clinical outcome. Inherited RUNX1 mutations cause familial platelet disorder. As approximately 5%-10% of germline RUNX1 mutations are large exonic deletions, we hypothesized that such exonic RUNX1 aberrations may also be acquired during the development of AML.\n\nSixty patients with well-characterized AML were analyzed with multiplex ligation-dependent probe amplification (n = 60), microarray (n = 11), and/or whole-genome sequencing (n = 8).\n\nIn total, 25 (42% of the cohort) RUNX1-aberrant patients (defined by the presence of classical mutations and/or exonic deletions) were identified. Sixteen patients (27%) carried only exonic deletions, 5 (8%) carried classical mutations, and 4 (7%) carried both exonic deletions and mutations. No significant difference was observed between patients with classical RUNX1 mutations and RUNX1 exonic deletions in median overall survival (OS, 53.1 vs. 38.8 months, respectively, P = 0.63). When applying the European Leukemia Net (ELN) classification including the RUNX1-aberrant group, 20% of the patients initially stratified as intermediate-risk (5% of the whole cohort) were reassigned to the high-risk group, which improved the performance of ELN classification regarding OS between intermediate- and high-risk groups (18.9 vs. 9.6 months, P = 0.09).\n\nSomatic RUNX1 exonic deletions constitute a novel recurrent aberration in AML. Our findings have important clinical implications regarding AML classification, risk stratification, and treatment decision. Moreover, they argue in favor of further investigating such genomic aberrations not only in RUNX1 but also in other genes implicated in cancer biology and management. See related commentary by Chakraborty and Stengel, p. 2742.", "doi": "10.1158/1078-0432.CCR-23-0122", "pmid": "37022349", "labels": [], "xrefs": [{"db": "pii", "key": "725154"}], "notes": [], "created": "2026-08-20T12:12:14.173Z", "modified": "2026-08-20T12:12:14.475Z"}, {"entity": "publication", "iuid": "4169939771554f4689b01d54aee78cfc", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/4169939771554f4689b01d54aee78cfc.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/4169939771554f4689b01d54aee78cfc"}}, "title": "Rigorous software pipeline for clinical somatic mutation analyses of solid tumors", "authors": [{"family": "Stoimenov", "given": "Ivaylo", "initials": "I", "orcid": "0000-0002-2133-7396", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/10ad1a77c6f241418187734e9a47c16c.json"}}, {"family": "Rashyna", "given": "Marina", "initials": "M"}, {"family": "Adlerteg", "given": "Tom", "initials": "T"}, {"family": "Nunes", "given": "Lu\u00eds", "initials": "L", "orcid": "0000-0002-3391-1607", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7aa31ccf1801456bb57744978bd605fd.json"}}, {"family": "Ekstr\u00f6m", "given": "Joakim", "initials": "J", "orcid": "0000-0002-9734-3979", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b217a0aef38c4eb7a84bfc11a90d9d99.json"}}, {"family": "Ljungstr\u00f6m", "given": "Viktor", "initials": "V"}, {"family": "Mathot", "given": "Lucy", "initials": "L", "orcid": "0000-0002-2990-2038", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/458c07a1748d4ce0ac5cff3d6836f350.json"}}, {"family": "Cheong", "given": "Ian", "initials": "I", "orcid": "0000-0002-3062-6878", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cb36663a59a34099b4c41c8911b8e8f5.json"}}, {"family": "Sj\u00f6blom", "given": "Tobias", "initials": "T", "orcid": "0000-0001-6668-4140", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/851b95a56b3244fb9bc7cec8294e7ae7.json"}}], "type": "posted-content", "published": "2023-06-14", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2023.06.08.23291143", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:46:29.849Z", "modified": "2026-08-20T10:46:29.996Z"}, {"entity": "publication", "iuid": "eb3bcc4057ad4b2f87c86ba95fb47913", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/eb3bcc4057ad4b2f87c86ba95fb47913.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/eb3bcc4057ad4b2f87c86ba95fb47913"}}, "title": "Prognostic whole-genome and transcriptome signatures in colorectal cancers", "authors": [{"family": "Nunes", "given": "Lu\u00eds", "initials": "L", "orcid": "0000-0002-3391-1607", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7aa31ccf1801456bb57744978bd605fd.json"}}, {"family": "Li", "given": "Fuqiang", "initials": "F", "orcid": "0000-0002-2085-1457", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2f35de79205341e1b552af0d9a53c272.json"}}, {"family": "Wu", "given": "Meizhen", "initials": "M", "orcid": "0009-0001-7702-0080", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3347dd4410ee46158b0e71d5fa2cfea2.json"}}, {"family": "Luo", "given": "Tian", "initials": "T"}, {"family": "Hammarstr\u00f6m", "given": "Klara", "initials": "K", "orcid": "0000-0002-8271-2241", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4246b34a99e1491f85a22005cd40ab3b.json"}}, {"family": "Lundin", "given": "Emma", "initials": "E"}, {"family": "Ljuslinder", "given": "Ingrid", "initials": "I"}, {"family": "Mezheyeuski", "given": "Artur", "initials": "A", "orcid": "0000-0002-4394-2634", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/227a0142881848f4a1635d66cf52e673.json"}}, {"family": "Edqvist", "given": "Per Henrik", "initials": "PH", "orcid": "0000-0002-8330-0134", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5219527c2dc6480da474f3c47dff9318.json"}}, {"family": "L\u00f6fgren-Burstr\u00f6m", "given": "Anna", "initials": "A"}, {"family": "Zingmark", "given": "Carl", "initials": "C", "orcid": "0000-0002-8627-5739", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7d8f8085f10044c18de0ca94153d34a7.json"}}, {"family": "Edin", "given": "Sofia", "initials": "S", "orcid": "0000-0002-1901-8011", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/11bc2f2cb7ba4c21a2e1cd991b94bd33.json"}}, {"family": "Larsson", "given": "Chatarina", "initials": "C", "orcid": "0000-0002-5250-3617", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c8cfd9d2257f4114841bccd38f31dcbd.json"}}, {"family": "Mathot", "given": "Lucy", "initials": "L", "orcid": "0000-0002-2990-2038", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/458c07a1748d4ce0ac5cff3d6836f350.json"}}, {"family": "Osterman", "given": "Erik", "initials": "E", "orcid": "0000-0003-1621-7872", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4943dc1995bf4688b5b1b570ca61f687.json"}}, {"family": "Osterlund", "given": "Emerik", "initials": "E", "orcid": "0000-0003-0973-6332", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e64664f9600b430183f9edfdf10fa2df.json"}}, {"family": "Ljungstr\u00f6m", "given": "Viktor", "initials": "V"}, {"family": "Neves", "given": "In\u00eas", "initials": "I", "orcid": "0000-0002-6459-4237", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2aa37042980f4e358240bde56c1a456e.json"}}, {"family": "Yacoub", "given": "Nicole", "initials": "N"}, {"family": "Gu\u00f0nad\u00f3ttir", "given": "Unnur", "initials": "U", "orcid": "0000-0002-4663-9921", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8702d95608284348b837ebbe275cc6af.json"}}, {"family": "Birgisson", "given": "Helgi", "initials": "H"}, {"family": "Enblad", "given": "Malin", "initials": "M", "orcid": "0000-0001-5900-0900", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bd2f8ad89196420584d0f79ad24575d3.json"}}, {"family": "Ponten", "given": "Fredrik", "initials": "F", "orcid": "0000-0003-0703-3940", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f5294424542413c9ba4432c839c2b63.json"}}, {"family": "Palmqvist", "given": "Richard", "initials": "R", "orcid": "0000-0002-9933-2843", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d058745d8b514f589888e8a2a0ccd603.json"}}, {"family": "Uhl\u00e9n", "given": "Mathias", "initials": "M", "orcid": "0000-0002-4858-8056", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9ea446aa574042a295d5f69437402f76.json"}}, {"family": "Wu", "given": "Kui", "initials": "K", "orcid": "0000-0002-6857-7231", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/31d4921301bd47d29263ec562266fb24.json"}}, {"family": "Glimelius", "given": "Bengt", "initials": "B", "orcid": "0000-0002-5440-791X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0a4a4dfe9cc6478baaaae4672181691c.json"}}, {"family": "Lin", "given": "Cong", "initials": "C", "orcid": "0009-0002-1494-4427", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d4fc57d6657440989fc9882843a05f25.json"}}, {"family": "Sj\u00f6blom", "given": "Tobias", "initials": "T", "orcid": "0000-0001-6668-4140", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/851b95a56b3244fb9bc7cec8294e7ae7.json"}}], "type": "posted-content", "published": "2023-03-30", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2023.03.28.23287846", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:44:56.326Z", "modified": "2026-08-20T10:44:56.648Z"}]}