{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T15:12:41Z","timestamp":1758121961496,"version":"3.37.3"},"reference-count":49,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,9,18]],"date-time":"2017-09-18T00:00:00Z","timestamp":1505692800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Health and Labour Sciences Research Grant","award":["H26-policy for cancer-general-012"],"award-info":[{"award-number":["H26-policy for cancer-general-012"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancer Science"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:p>In addition to <jats:italic><jats:styled-content style=\"fixed-case\">BRCA<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">BRCA<\/jats:styled-content>2, <jats:styled-content style=\"fixed-case\">RAD<\/jats:styled-content>51C<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">PALB<\/jats:styled-content>2<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">BRIP<\/jats:styled-content>1<\/jats:italic> are known as breast cancer susceptibility genes. However, the mutation status of these genes in Japanese familial breast cancer cases has not yet been evaluated. To this end, we analyzed the exon sequence and genomic rearrangement of <jats:italic><jats:styled-content style=\"fixed-case\">RAD<\/jats:styled-content>51C<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">PALB<\/jats:styled-content>2<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">BRIP<\/jats:styled-content>1<\/jats:italic> in 100 Japanese patients diagnosed with familial breast and ovarian cancer and without <jats:italic><jats:styled-content style=\"fixed-case\">BRCA<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">BRCA<\/jats:styled-content>2<\/jats:italic> mutations. We detected a large deletion from exons 6 to 9 in <jats:italic><jats:styled-content style=\"fixed-case\">RAD<\/jats:styled-content>51C<\/jats:italic>, 4 novel <jats:italic><jats:styled-content style=\"fixed-case\">BRIP<\/jats:styled-content>1<\/jats:italic> missense variants containing 3 novel non\u2010synonymous variants, c.89A&gt;C, c.736A&gt;G and c.2131A&gt;G, and a splice donor site variant c.918+2T&gt;C. No deleterious variant of <jats:italic><jats:styled-content style=\"fixed-case\">PALB<\/jats:styled-content>2<\/jats:italic> was detected. The results of pedigree analysis showed that the proband with a large deletion on <jats:italic><jats:styled-content style=\"fixed-case\">RAD<\/jats:styled-content>51C<\/jats:italic> had a family history of both breast and ovarian cancer, and the families of probands with novel <jats:italic><jats:styled-content style=\"fixed-case\">BRIP<\/jats:styled-content>1<\/jats:italic> missense variants included a male patient with breast cancer or many patients with breast cancer within the second\u2010degree relatives. We showed that the mutation frequency of <jats:italic><jats:styled-content style=\"fixed-case\">RAD<\/jats:styled-content>51C<\/jats:italic> in Japanese familial breast cancer cases was similar to that in Western countries and that the prevalence of deleterious mutation of <jats:italic><jats:styled-content style=\"fixed-case\">PALB<\/jats:styled-content>2<\/jats:italic> was possibly lower. Furthermore, our results suggested that <jats:italic><jats:styled-content style=\"fixed-case\">BRIP<\/jats:styled-content>1<\/jats:italic> mutation frequency in Japan might differ from that in Western countries.<\/jats:p>","DOI":"10.1111\/cas.13350","type":"journal-article","created":{"date-parts":[[2017,8,10]],"date-time":"2017-08-10T12:06:37Z","timestamp":1502366797000},"page":"2287-2294","source":"Crossref","is-referenced-by-count":15,"title":["Mutation status of <i><scp>RAD<\/scp>51C<\/i>,<i><scp>PALB<\/scp>2<\/i> and <i><scp>BRIP<\/scp>1<\/i> in 100 Japanese familial breast cancer cases without <i><scp>BRCA<\/scp>1<\/i> and <i><scp>BRCA<\/scp>2<\/i> mutations"],"prefix":"10.1111","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9666-9742","authenticated-orcid":false,"given":"Katsutoshi","family":"Sato","sequence":"first","affiliation":[{"name":"Clinical Genetic Oncology Cancer Institute Hospital Japanese Foundation of Cancer Research Tokyo 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