{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T11:55:54Z","timestamp":1789041354333,"version":"build-2803163510"},"reference-count":110,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2024,5,12]],"date-time":"2024-05-12T00:00:00Z","timestamp":1715472000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["20-15-00081"],"award-info":[{"award-number":["20-15-00081"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Multiple myeloma (MM) is the second most common hematological malignancy, which remains incurable despite recent advances in treatment strategies. Like other forms of cancer, MM is characterized by genomic instability, caused by defects in DNA repair. Along with mutations in DNA repair genes and genotoxic drugs used to treat MM, non-canonical secondary DNA structures (four-stranded G-quadruplex structures) can affect accumulation of somatic mutations and chromosomal abnormalities in the tumor cells of MM patients. Here, we tested the hypothesis that G-quadruplex structures may influence the distribution of somatic mutations in the tumor cells of MM patients. We sequenced exomes of normal and tumor cells of 11 MM patients and analyzed the data for the presence of G4 context around points of somatic mutations. To identify molecular mechanisms that could affect mutational profile of tumors, we also analyzed mutational signatures in tumor cells as well as germline mutations for the presence of specific SNPs in DNA repair genes or in genes regulating G-quadruplex unwinding. In several patients, we found that sites of somatic mutations are frequently located in regions with G4 context. This pattern correlated with specific germline variants found in these patients. We discuss the possible implications of these variants for mutation accumulation and specificity in MM and propose that the extent of G4 context enrichment around somatic mutation sites may be a novel metric characterizing mutational processes in tumors.<\/jats:p>","DOI":"10.3390\/ijms25105269","type":"journal-article","created":{"date-parts":[[2024,5,14]],"date-time":"2024-05-14T08:03:08Z","timestamp":1715673788000},"page":"5269","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["G-Quadruplex Forming DNA Sequence Context Is Enriched around Points of Somatic Mutations in a Subset of Multiple Myeloma Patients"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8683-9533","authenticated-orcid":false,"given":"Anna S.","family":"Zhuk","sequence":"first","affiliation":[{"name":"Laboratory of Amyloid Biology, St. Petersburg State University, 199034 St. Petersburg, Russia"},{"name":"Institute of Applied Computer Science, ITMO University, 197101 St. Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5854-8701","authenticated-orcid":false,"given":"Elena I.","family":"Stepchenkova","sequence":"additional","affiliation":[{"name":"Vavilov Institute of General Genetics, St. Petersburg Branch, Russian Academy of Sciences, 199034 St. Petersburg, Russia"},{"name":"Department of Genetics and Biotechnology, St. Petersburg State University, 199034 St. Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6393-5645","authenticated-orcid":false,"given":"Irina V.","family":"Zotova","sequence":"additional","affiliation":[{"name":"Laboratory of Amyloid Biology, St. Petersburg State University, 199034 St. Petersburg, Russia"},{"name":"Vavilov Institute of General Genetics, St. Petersburg Branch, Russian Academy of Sciences, 199034 St. Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2002-4192","authenticated-orcid":false,"given":"Olesya B.","family":"Belopolskaya","sequence":"additional","affiliation":[{"name":"Resource Center \u201cBio-Bank Center\u201d, Research Park of St. Petersburg State University, 198504 St. Petersburg, Russia"},{"name":"The Laboratory of Genogeography, Vavilov Institute of General Genetics, Russian Academy of Sciences, 119991 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1179-5796","authenticated-orcid":false,"given":"Youri I.","family":"Pavlov","sequence":"additional","affiliation":[{"name":"Eppley Institute for Research in Cancer, Fred and Pamela Buffett Cancer Center, University of Nebraska Medical Center, Omaha, NE 68198, USA"},{"name":"Departments of Biochemistry and Molecular Biology, Microbiology and Pathology, Genetics Cell Biology and Anatomy, University of Nebraska Medical Center, Omaha, NE 68198, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3768-0831","authenticated-orcid":false,"given":"Ivan I.","family":"Kostroma","sequence":"additional","affiliation":[{"name":"City Hospital No. 15, 198205 St. Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7586-4709","authenticated-orcid":false,"given":"Sergey V.","family":"Gritsaev","sequence":"additional","affiliation":[{"name":"City Hospital No. 15, 198205 St. Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1601-1615","authenticated-orcid":false,"given":"Anna Y.","family":"Aksenova","sequence":"additional","affiliation":[{"name":"Laboratory of Amyloid Biology, St. Petersburg State University, 199034 St. Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Aksenova, A.Y., Zhuk, A.S., Lada, A.G., Zotova, I.V., Stepchenkova, E.I., Kostroma, I.I., Gritsaev, S.V., and Pavlov, Y.I. 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