{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T14:48:54Z","timestamp":1789829334152,"version":"4.0.1"},"reference-count":28,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,11,7]],"date-time":"2013-11-07T00:00:00Z","timestamp":1383782400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Acci\u00ef\u00bf\u00bdn Cooperativa y Colaborativa Intramural-CIBER2012"},{"name":"European Regional Development FEDER Funds"},{"name":"Fondo de Investigaci\u00ef\u00bf\u00bdn Sanitaria (FIS)","award":["PI 12\/00539"],"award-info":[{"award-number":["PI 12\/00539"]}]},{"name":"Intrasalud","award":["PI12\/00070"],"award-info":[{"award-number":["PI12\/00070"]}]},{"name":"Miguel Servet program, Spanish Carlos III Health Institute","award":["CP10\/00617"],"award-info":[{"award-number":["CP10\/00617"]}]},{"name":"Mutua Madrile\u00ef\u00bf\u00bda Foundation (FMMA)"},{"name":"SAF2010-20493"},{"name":"Xunta de Galicia","award":["10PXIB 9101297PR"],"award-info":[{"award-number":["10PXIB 9101297PR"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:p>\n                    <jats:italic>RAD51D<\/jats:italic>\n                    mutations have been recently identified in breast (BC) and ovarian cancer (OC) families. Although an etiological role in OC appears to be present, the association of\n                    <jats:italic>RAD51D<\/jats:italic>\n                    mutations and BC risk is more unclear. We aimed to determine the prevalence of germline\n                    <jats:italic>RAD51D<\/jats:italic>\n                    mutations in Spanish BC\/OC families negative for\n                    <jats:italic>BRCA1\/BRCA2<\/jats:italic>\n                    mutations. We analyzed 842 index patients: 491 from BC\/OC families, 171 BC families, 51 OC families and 129 patients without family history but with early\u2010onset BC or OC or metachronous BC and OC. Mutation detection was performed with high\u2010resolution melting, denaturing high\u2010performance liquid chromatography or Sanger sequencing. Three mutations were found in four families with BC and OC cases (0.82%). Two were novel: c.1A&gt;T (p.Met1?) and c.667+2_667+23del, leading to the exon 7 skipping and one previously described: c.674C&gt;T (p.Arg232*). All were present in BC\/OC families with only one OC. The c.667+2_667+23del cosegregated in the family with one early\u2010onset BC and two bilateral BC cases. We also identified the c.629C&gt;T (p.Ala210Val) variant, which was predicted\n                    <jats:italic>in silico<\/jats:italic>\n                    to be potentially pathogenic. About 1% of the BC and OC Spanish families negative for\n                    <jats:italic>BRCA1\/BRCA2<\/jats:italic>\n                    are carriers of\n                    <jats:italic>RAD51D<\/jats:italic>\n                    mutations. The presence of several BC mutation carriers, albeit in the context of familial OC, suggests an increased risk for BC, which should be taken into account in the follow\u2010up and early detection measures.\n                    <jats:italic>RAD51D<\/jats:italic>\n                    testing should be considered in clinical setting for families with BC and OC, irrespective of the number of OC cases in the family.\n                  <\/jats:p>","DOI":"10.1002\/ijc.28540","type":"journal-article","created":{"date-parts":[[2013,10,15]],"date-time":"2013-10-15T12:23:22Z","timestamp":1381839802000},"page":"2088-2097","source":"Crossref","is-referenced-by-count":29,"title":["About 1% of the breast and ovarian Spanish families testing negative for\n                    <i>BRCA1<\/i>\n                    and\n                    <i>BRCA2<\/i>\n                    are carriers of\n                    <i>RAD51D<\/i>\n                    pathogenic variants"],"prefix":"10.1002","volume":"134","author":[{"given":"Sara","family":"Guti\u00e9rrez\u2010Enr\u00edquez","sequence":"first","affiliation":[{"name":"Oncogenetics Group Vall d'Hebron Institute of Oncology (VHIO) Universitat Autonoma de Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Bonache","sequence":"additional","affiliation":[{"name":"Oncogenetics Group Vall d'Hebron Institute of Oncology (VHIO) Universitat Autonoma de Barcelona Barcelona Spain"},{"name":"Oncogenetics Group Vall d'Hebron Research Institute (VHIR) and Universitat Autonoma de Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gorka","family":"Ru\u00edz de Garibay","sequence":"additional","affiliation":[{"name":"Laboratorio de Oncolog\u00eda Molecular Instituto de Investigaci\u00f3n Sanitaria San Carlos (IdISSC), Hospital Cl\u00ednico San Carlos Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Osorio","sequence":"additional","affiliation":[{"name":"Human Genetics Group Human Cancer Genetics Programme Spanish National Cancer Centre (CNIO) Madrid Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Santamari\u00f1a","sequence":"additional","affiliation":[{"name":"Grupo de Medicina Xen\u00f3mica\u2010USC University of Santiago de Compostela, CIBERER, IDIS Santiago de Compostela Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Ram\u00f3n y Cajal","sequence":"additional","affiliation":[{"name":"Medical Oncology Department Santa Creu i Sant Pau Hospital Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Esteban\u2010Carde\u00f1osa","sequence":"additional","affiliation":[{"name":"Instituto de Biolog\u00eda y Gen\u00e9tica Molecular (UVa\u2010CSIC) Gen\u00e9tica del C\u00e1ncer Valladolid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Ten\u00e9s","sequence":"additional","affiliation":[{"name":"Oncogenetics Group Vall d'Hebron Institute of Oncology (VHIO) Universitat Autonoma de Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kira","family":"Yanowsky","sequence":"additional","affiliation":[{"name":"Human Genetics Group Human Cancer Genetics Programme Spanish National Cancer Centre (CNIO) Madrid Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicia","family":"Barroso","sequence":"additional","affiliation":[{"name":"Human Genetics Group Human Cancer Genetics Programme Spanish National Cancer Centre (CNIO) Madrid Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gemma","family":"Montalban","sequence":"additional","affiliation":[{"name":"Oncogenetics Group Vall d'Hebron Institute of Oncology (VHIO) Universitat Autonoma de Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Blanco","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n P\u00fablica Galega de Medicina Xen\u00f3mica\u2010SERGAS Grupo de Medicina Xen\u00f3mica, CIBERER, IDIS Santiago de Compostela Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f2nica","family":"Cornet","sequence":"additional","affiliation":[{"name":"Genetics Department CIBERER U\u2010705, Santa Creu i Sant Pau Hospital Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neus","family":"Gadea","sequence":"additional","affiliation":[{"name":"Medical Oncology Department University Hospital of Vall 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