{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:34:13Z","timestamp":1786649653379,"version":"build-2736575974"},"reference-count":40,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      The incidence of breast cancer (BC) is increasing in Iranian women, especially in those with a positive family history of any type of cancer. Being a carrier of pathogenic variants in\n                      <jats:italic toggle=\"yes\">BRCA1\/2<\/jats:italic>\n                      genes, significantly raises the risk of developing BC, mostly at young ages.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>\n                      We sequenced the entire coding regions of\n                      <jats:italic toggle=\"yes\">BRCA1\/<\/jats:italic>\n                      2 genes using next generation sequencing (NGS) in 50 selected patients with HBC criteria for genetic testing from a cohort of about 700 newly diagnosed BC patients. In the patient with novel pathogenic variant, bioinformatics and co-segregation study were performed, and American College of Medical Genetics and Genomics (ACMG) guidelines were used for the variant\u2019s interpretation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Among the 50 patients, pathogenic variants were found in 16 patients (12 in the\n                      <jats:italic toggle=\"yes\">BRCA1<\/jats:italic>\n                      and 4 in the\n                      <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                      gene) that were mainly frameshift index (50%). We identified a novel pathogenic variants (p.Cyc27Valfs*4) in\n                      <jats:italic toggle=\"yes\">BRCA1<\/jats:italic>\n                      and four which were not previously reported in Iranian BC patients. Interestingly, out of 12 pathogenic variants in the\n                      <jats:italic toggle=\"yes\">BRCA1<\/jats:italic>\n                      gene, three unrelated families had the same variant (p.Arg1203Term) which could be added as a recurrent variant in the Iranian population. Notably, the frequency of triple-negative breast cancer (TNBC) patients harboring\n                      <jats:italic toggle=\"yes\">BRCA1\/2<\/jats:italic>\n                      mutations was significant (62.5%).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Young age at onset and having a positive family history of cancer are among the most important criteria to perform genetic testing. Identification of the carriers of pathogenic variants in high-risk families and also recurrent variants in the population will contribute to prevent of HBC.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/abr.abr_681_24","type":"journal-article","created":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T14:01:16Z","timestamp":1767103276000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Prevalence of Novel and Recurrent Pathogenic Variants in BRCA Genes in a Cohort of Iranian Hereditary Breast Cancer Patients"],"prefix":"10.4103","volume":"14","author":[{"given":"Akram","family":"Sarmadi","sequence":"first","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaghayegh","family":"Haghjooy Javanmard","sequence":"additional","affiliation":[{"name":"Metabolomics and Genomics Research Center, Cellular and Molecular Institute, Endocrinology and Metabolism Research Institute, Tehran University of Medical Sciences, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehrdad","family":"Zeinalian","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Hosseinzadeh","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Amin","family":"Tabatabaiefar","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,12]]},"reference":[{"key":"R1-20251230","doi-asserted-by":"crossref","first-page":"85","DOI":"10.3390\/cancers16010085","article-title":"Novel pathogenic variants in 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