{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:57:06Z","timestamp":1790618226650,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T00:00:00Z","timestamp":1788393600000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Reports"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Ovarian cancer is one of the leading causes of death from gynecological cancer worldwide. Genetic mutations in genes involved in key cellular functions such as\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      play a central role in tumorigenesis and have major implications for targeted therapeutic strategies, especially the use of poly (ADP\u2010ribose) polymerase (PARP) inhibitors.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case<\/jats:title>\n                    <jats:p>\n                      Herein, we described a case of a 50\u2010year\u2010old woman diagnosed with severe anemia secondary to heavy menometrorrhagia. Initial gynecological evaluation, including transvaginal ultrasound, was unremarkable, and endometrial biopsy was not indicated. Imaging revealed no ovarian abnormalities; however, exploratory laparotomy identified a peritoneal nodule, leading to further investigation. Targeted NGS was performed on somatic and germline DNA samples and showed a frame shift deletion of 10\u2009bp (c.1256_1265del: p.R419Ter) in the\n                      <jats:italic>BRCA1<\/jats:italic>\n                      gene. This variant, identified only in tumor tissues, is novel and classified as pathogenic in ClinVar and ACMG databases. Additional somatic alterations were detected in\n                      <jats:italic>TP53<\/jats:italic>\n                      and\n                      <jats:italic>MSH6<\/jats:italic>\n                      , while germline testing revealed only a variant of uncertain significance in\n                      <jats:italic>BARD1<\/jats:italic>\n                      . After first\u2010line chemotherapy, the patient benefited from olaparib and achieved a progression\u2010free survival of 23\u2009months with good tolerance and no evidence of disease recurrence.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This finding highlights the importance of integrating tumor\u2010based genomic profiling with germline testing to identify actionable mutations and guide precision oncology. The identification of a novel somatic\n                      <jats:italic>BRCA1<\/jats:italic>\n                      mutation expands the mutational spectrum of HGSOC and underscores the need to include underrepresented populations, such as those from North Africa, in genomic studies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/cnr2.70658","type":"journal-article","created":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T05:22:47Z","timestamp":1788499367000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel\n                    <scp>BRCA1<\/scp>\n                    Pathogenic Variant in Tunisian Patient With High Grade Ovarian Cancer: Favorable Therapeutic Response to Olaparib"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5744-0328","authenticated-orcid":false,"given":"Nihel","family":"Ammous\u2010Boukhris","sequence":"first","affiliation":[{"name":"Center of Biotechnology of Sfax, Laboratory of Eukaryotes Molecular Biotechnology University of Sfax  Sfax Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-9777-7222","authenticated-orcid":false,"given":"Rania","family":"Abdelmaksoud\u2010Dammak","sequence":"additional","affiliation":[{"name":"Center of Biotechnology of Sfax, Laboratory of Eukaryotes Molecular Biotechnology University of Sfax  Sfax Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ameni","family":"Feki","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology Habib Bourguiba Hospital  Sfax 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