{"entity": "researcher", "timestamp": "2026-05-12T21:51:15.785Z", "family": "Walter", "given": "Matthew J", "initials": "MJ", "orcid": "0000-0002-7753-1091", "affiliations": ["Division of Oncology, Department of Medicine, Washington University School of Medicine, St Louis, MO.", "Alvin J. Siteman Cancer Center, Washington University School of Medicine, St Louis, MO."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/055099b1d98c4b43bf1163a4553c1f34.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/055099b1d98c4b43bf1163a4553c1f34"}}, "publications": [{"entity": "publication", "iuid": "a43536e195f64a35a033e6e8d4d2e0a4", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/a43536e195f64a35a033e6e8d4d2e0a4.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/a43536e195f64a35a033e6e8d4d2e0a4"}}, "title": "Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.", "authors": [{"family": "Liu", "given": "Jie", "initials": "J", "orcid": "0000-0001-6365-1888", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ddad30666cdd405aa37bb60d42f29348.json"}}, {"family": "Tran", "given": "Duc", "initials": "D", "orcid": "0000-0003-2918-8601", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f911948879504edd8870280ef9293a1c.json"}}, {"family": "Xue", "given": "Liying", "initials": "L"}, {"family": "Wiley", "given": "Brian J", "initials": "BJ"}, {"family": "Vlasschaert", "given": "Caitlyn", "initials": "C"}, {"family": "Watson", "given": "Caroline J", "initials": "CJ", "orcid": "0000-0002-8351-268X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c61f7e01d88b48f29b0909570d2eec97.json"}}, {"family": "MacGregor", "given": "Hamish A J", "initials": "HAJ"}, {"family": "Zong", "given": "Xiaoyu", "initials": "X"}, {"family": "Chan", "given": "Irenaeus C C", "initials": "ICC"}, {"family": "Das", "given": "Indraniel", "initials": "I"}, {"family": "Uddin", "given": "Md Mesbah", "initials": "MM", "orcid": "0000-0003-1846-0411", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/42f1ac7010c34ba997a3fd9e56c6a56a.json"}}, {"family": "Niroula", "given": "Abhishek", "initials": "A", "orcid": "0000-0002-5904-0635", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/05df7afc7a494ba5af8a378e5ffa53f0.json"}}, {"family": "Griffin", "given": "Gabriel", "initials": "G", "orcid": "0000-0002-4042-6757", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f6153204e19d4660b640dc4467605973.json"}}, {"family": "Ebert", "given": "Benjamin L", "initials": "BL", "orcid": "0000-0003-0197-5451", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/56e4f1c53a4348e2b0ceb44a38850a17.json"}}, {"family": "Mack", "given": "Taralynn", "initials": "T", "orcid": "0000-0003-1043-2950", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b126c40c737b4b06a8702801ee227b04.json"}}, {"family": "Pershad", "given": "Yash", "initials": "Y", "orcid": "0000-0002-2282-1403", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ba3556fc94884dee9cc2bb4a79415631.json"}}, {"family": "Sharber", "given": "Brian", "initials": "B", "orcid": "0009-0005-9598-8211", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cbee42b03e8943e4b6ea4e5690b8dca0.json"}}, {"family": "Berger", "given": "Michael", "initials": "M", "orcid": "0000-0003-3882-5000", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/38cae43288b94d39a9261c1790cb51ea.json"}}, {"family": "Zehir", "given": "Ahmet", "initials": "A", "orcid": "0000-0001-5406-4104", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a0c0313e93434df3bdf14217e4b5aea2.json"}}, {"family": "Ptashkin", "given": "Ryan", "initials": "R"}, {"family": "Levine", "given": "Ross L", "initials": "RL", "orcid": "0000-0002-7884-1905", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/db32b99e8427494c93dbce3366801c54.json"}}, {"family": "Papaemmanuil", "given": "Elli", "initials": "E", "orcid": "0000-0003-1709-8983", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6ea61c4aa9324a398fffe747c0e7824d.json"}}, {"family": "Joseph", "given": "Vijai", "initials": "V", "orcid": "0000-0002-7933-151X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a056e9c694a14da8a883ac07a4c039c9.json"}}, {"family": "Gao", "given": "Teng", "initials": "T", "orcid": "0000-0002-0196-689X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/553d7ec1abd34703bb7145d35b484c29.json"}}, {"family": "Kemel", "given": "Yelena", "initials": "Y", "orcid": "0000-0002-5042-5651", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0cea60ee959b44c19549b815cb31a1eb.json"}}, {"family": "Mandelker", "given": "Diana", "initials": "D", "orcid": "0000-0003-4154-0567", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/03937c44ffc94ba79aa713ea4b93c6ee.json"}}, {"family": "Stopsack", "given": "Konrad H", "initials": "KH", "orcid": "0000-0002-0722-1311", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/120f5a25b7254b7f834cc9cebfa6c0d3.json"}}, {"family": "Pharoah", "given": "Paul D P", "initials": "PDP", "orcid": "0000-0001-8494-732X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/723de78b315e47bcb52e2c89a2d3918a.json"}}, {"family": "Mukherjee", "given": "Semanti", "initials": "S"}, {"family": "Ding", "given": "Li", "initials": "L", "orcid": "0000-0003-1517-2975", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/148794e8a0a84be98b9c47b5d1fa8b27.json"}}, {"family": "Cao", "given": "Yin", "initials": "Y", "orcid": "0000-0001-9835-7662", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a34eb276a5514342adb104aa5df642c9.json"}}, {"family": "Walter", "given": "Matthew J", "initials": "MJ", "orcid": "0000-0002-7753-1091", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/055099b1d98c4b43bf1163a4553c1f34.json"}}, {"family": "Blundell", "given": "Jamie R", "initials": "JR"}, {"family": "Chatterjee", "given": "Nilanjan", "initials": "N", "orcid": "0000-0002-9060-008X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4ec346fd556e40bda203b75825b4324b.json"}}, {"family": "Offit", "given": "Kenneth", "initials": "K"}, {"family": "Godley", "given": "Lucy A", "initials": "LA", "orcid": "0000-0003-1914-9158", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3364441e62b7475086fea2db834a3760.json"}}, {"family": "Link", "given": "Daniel C", "initials": "DC", "orcid": "0000-0002-3170-7581", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/48661b793e284fd480d5d070a0b9a7e5.json"}}, {"family": "Stadler", "given": "Zsofia K", "initials": "ZK", "orcid": "0000-0002-6985-2864", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/726b7892e14b40ba8a6569a9de8a39b1.json"}}, {"family": "Bick", "given": "Alexander G", "initials": "AG"}, {"family": "Natarajan", "given": "Pradeep", "initials": "P"}, {"family": "Bolton", "given": "Kelly L", "initials": "KL", "orcid": "0000-0001-6584-3357", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/74eb7c71cebc4e8c888ff2b7426b4438.json"}}], "type": "journal article", "published": "2025-08-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "57", "issue": "8", "pages": "1872-1880", "issn-l": "1061-4036"}, "abstract": "With age, clonal expansions occur pervasively across normal tissues yet only in rare instances lead to cancer, despite being driven by well-established cancer drivers. Characterization of the factors that influence clonal progression is needed to inform interventional approaches. Germline genetic variation influences cancer risk and shapes tumor mutational profile, but its influence on the mutational landscape of normal tissues is not well known. Here we studied the impact of germline genetic variation on clonal hematopoiesis (CH) in 731,835 individuals. We identified 22 new CH-predisposition genes, most of which predispose to CH driven by specific mutational events. CH-predisposition genes contribute to unique somatic landscapes, reflecting the influence of germline genetic backdrop on gene-specific CH fitness. Correspondingly, somatic-germline interactions influence the risk of CH progression to hematologic malignancies. These results demonstrate that germline genetic variation influences somatic evolution in the blood, findings that likely extend to other tissues.", "doi": "10.1038/s41588-025-02250-x", "pmid": "40664769", "labels": {"DDLS Fellow": null, "Abhishek Niroula": null}, "xrefs": [{"db": "pmc", "key": "PMC12339400"}, {"db": "pii", "key": "10.1038/s41588-025-02250-x"}], "notes": [], "created": "2025-11-17T15:51:13.415Z", "modified": "2025-11-17T15:51:14.113Z"}, {"entity": "publication", "iuid": "367da52594d24257b0893c583572611c", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/367da52594d24257b0893c583572611c.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/367da52594d24257b0893c583572611c"}}, "title": "Clonal Hematopoiesis and Risk of Incident Lung Cancer.", "authors": [{"family": "Tian", "given": "Ruiyi", "initials": "R", "orcid": "0000-0001-5024-6832", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1a2cc8a38bbe41649a441405def87345.json"}}, {"family": "Wiley", "given": "Brian", "initials": "B"}, {"family": "Liu", "given": "Jie", "initials": "J", "orcid": "0000-0001-6365-1888", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ddad30666cdd405aa37bb60d42f29348.json"}}, {"family": "Zong", "given": "Xiaoyu", "initials": "X", "orcid": "0000-0001-5646-710X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f1250f735b6b4cd2a6873a9208e862a8.json"}}, {"family": "Truong", "given": "Buu", "initials": "B", "orcid": "0000-0003-0043-0812", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/24e9ec70c1f74fdfa182de3d7d9e21fa.json"}}, {"family": "Zhao", "given": "Stephanie", "initials": "S", "orcid": "0000-0001-6637-1486", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e8551483c0f5406b864d2353e8978add.json"}}, {"family": "Uddin", "given": "Md Mesbah", "initials": "MM", "orcid": "0000-0003-1846-0411", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/42f1ac7010c34ba997a3fd9e56c6a56a.json"}}, {"family": "Niroula", "given": "Abhishek", "initials": "A", "orcid": "0000-0002-5904-0635", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/05df7afc7a494ba5af8a378e5ffa53f0.json"}}, {"family": "Miller", "given": "Christopher A", "initials": "CA", "orcid": "0000-0003-4266-6700", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/80d153aa89554327b42354faae946064.json"}}, {"family": "Mukherjee", "given": "Semanti", "initials": "S", "orcid": "0000-0002-1843-9359", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7fe7a9badb944aa5998031b33a6d43cc.json"}}, {"family": "Heiden", "given": "Brendan T", "initials": "BT", "orcid": "0000-0002-0116-7377", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9fa032b03f8b4b9cab62d43a2d4fc7ac.json"}}, {"family": "Luo", "given": "Jingqin", "initials": "J", "orcid": "0000-0003-2759-3072", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/767ef98656bb42149d14aebb4618059e.json"}}, {"family": "Puri", "given": "Varun", "initials": "V"}, {"family": "Kozower", "given": "Benjamin D", "initials": "BD"}, {"family": "Walter", "given": "Matthew J", "initials": "MJ", "orcid": "0000-0002-7753-1091", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/055099b1d98c4b43bf1163a4553c1f34.json"}}, {"family": "Ding", "given": "Li", "initials": "L"}, {"family": "Link", "given": "Daniel C", "initials": "DC"}, {"family": "Amos", "given": "Christopher I", "initials": "CI", "orcid": "0000-0002-8540-7023", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dc5439b0cf4b4619a56d6d361fc12210.json"}}, {"family": "Ebert", "given": "Benjamin L", "initials": "BL", "orcid": "0000-0003-0197-5451", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/56e4f1c53a4348e2b0ceb44a38850a17.json"}}, {"family": "Govindan", "given": "Ramaswamy", "initials": "R", "orcid": "0000-0002-6964-9612", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f0d884b2cbfb41af8df1101ba9d7f7d0.json"}}, {"family": "Natarajan", "given": "Pradeep", "initials": "P", "orcid": "0000-0001-8402-7435", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fe8bd48c61c047cd8e61c35d9e9ac650.json"}}, {"family": "Bolton", "given": "Kelly L", "initials": "KL", "orcid": "0000-0001-6584-3357", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/74eb7c71cebc4e8c888ff2b7426b4438.json"}}, {"family": "Cao", "given": "Yin", "initials": "Y", "orcid": "0000-0001-9835-7662", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a34eb276a5514342adb104aa5df642c9.json"}}], "type": "journal article", "published": "2023-03-01", "journal": {"title": "J Clin Oncol", "issn": "1527-7755", "volume": "41", "issue": "7", "pages": "1423-1433", "issn-l": "0732-183X"}, "abstract": "To prospectively examine the association between clonal hematopoiesis (CH) and subsequent risk of lung cancer.\n\nAmong 200,629 UK Biobank (UKBB) participants with whole-exome sequencing, CH was identified in a nested case-control study of 832 incident lung cancer cases and 3,951 controls (2006-2019) matched on age and year at blood draw, sex, race, and smoking status. A similar nested case-control study (141 cases/652 controls) was conducted among 27,975 participants with whole-exome sequencing in the Mass General Brigham Biobank (MGBB, 2010-2021). In parallel, we compared CH frequency in published data from 5,003 patients with solid tumor (2,279 lung cancer) who had pretreatment blood sequencing performed through Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets.\n\nIn UKBB, the presence of CH was associated with increased risk of lung cancer (cases: 12.5% v controls: 8.7%; multivariable-adjusted odds ratio [OR], 1.36; 95% CI, 1.06 to 1.74). The association remained robust after excluding participants with chronic obstructive pulmonary disease. No significant interactions with known risk factors, including polygenic risk score and C-reactive protein, were identified. In MGBB, we observed similar enrichment of CH in lung cancer (cases: 15.6% v controls: 12.7%). The meta-analyzed OR (95% CI) of UKBB and MGBB was 1.35 (1.08 to 1.68) for CH overall and 1.61 (1.19 to 2.18) for variant allele frequencies \u2265 10%. In Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets, CH with a variant allele frequency \u2265 10% was enriched in pretreatment lung cancer compared with other tumors after adjusting for age, sex, and smoking (OR for lung v breast cancer: 1.61; 95% CI, 1.03 to 2.53).\n\nIndependent of known risk factors, CH is associated with increased risk of lung cancer.", "doi": "10.1200/JCO.22.00857", "pmid": "36480766", "labels": {"Abhishek Niroula": null, "DDLS Fellow": null}, "xrefs": [{"db": "pmc", "key": "PMC9995101"}], "notes": [], "created": "2023-11-20T11:36:22.458Z", "modified": "2023-11-20T11:36:23.254Z"}]}