{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T23:28:36Z","timestamp":1767137316309,"version":"build-2238731810"},"reference-count":37,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T00:00:00Z","timestamp":1718064000000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["20K07711"],"award-info":[{"award-number":["20K07711"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Environ and Mol Mutagen"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Annotating genomic sequence alterations is sometimes a difficult decision, particularly in missense variants with uncertain pathogenic significance and also in those presumed as germline pathogenic variants. We here suggest that mutation spectrum may also be useful for judging them. From the public databases, 982\n                    <jats:italic>BRCA1<\/jats:italic>\n                    \/1861\n                    <jats:italic>BRCA2<\/jats:italic>\n                    germline missense variants and 294\n                    <jats:italic>BRCA1<\/jats:italic>\n                    \/420\n                    <jats:italic>BRCA2<\/jats:italic>\n                    somatic missense variants were obtained. We then compared their mutation spectra, i.e., the frequencies of two transition\u2010 and four transversion\u2010type mutations, in each category. Intriguingly, in\n                    <jats:italic>BRCA1<\/jats:italic>\n                    variants, A:T to C:G transversion, which was relatively frequent in the germline, was extremely rare in somatic, particularly breast cancer, cells (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u2009.03). Conversely, A:T to T:A transversion was most infrequent in the germline, but not rare in somatic cells. Thus,\n                    <jats:italic>BRCA1<\/jats:italic>\n                    variants with A:T to T:A transversion may be suspected as somatic, and those with A:T to C:G as being in the germline. These tendencies of mutation spectrum may also suggest the biological and chemical origins of the base alterations. On the other hand, unfortunately, variants of uncertain significance (VUS) were not distinguishable by mutation spectrum. Our findings warrant further and more detailed studies.\n                  <\/jats:p>","DOI":"10.1002\/em.22614","type":"journal-article","created":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T09:33:01Z","timestamp":1718098381000},"page":"179-186","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Mutation spectra of the\n                    <i>BRCA1<\/i>\n                    \/\n                    <i>2<\/i>\n                    genes in human breast and ovarian cancer and germline"],"prefix":"10.1002","volume":"65","author":[{"given":"Yumiko","family":"Koi","sequence":"first","affiliation":[{"name":"Department of Breast Oncology NHO Kyushu Cancer Center  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arisa","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Chemistry, Faculty of Science Fukuoka University  Fukuoka Japan"},{"name":"Cancer Genetics Laboratory, Clinical Research Institute NHO Kyushu Cancer Center  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akari","family":"Kawasaki","sequence":"additional","affiliation":[{"name":"Department of Chemistry, Faculty of Science Fukuoka University  Fukuoka Japan"},{"name":"Cancer Genetics Laboratory, Clinical Research Institute NHO Kyushu Cancer Center  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satomi","family":"Ideo","sequence":"additional","affiliation":[{"name":"Cancer Genetics and Genomics NHO Kyushu Cancer Center  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nao","family":"Matsutani","sequence":"additional","affiliation":[{"name":"Cancer Genetics and Genomics NHO Kyushu Cancer Center  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaname","family":"Miyashita","sequence":"additional","affiliation":[{"name":"Cancer Genetics Laboratory, Clinical 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