Hereditary breast, ovarian, pancreatic and prostate cancer syndrome: Multigene testing, multiomics, and risk management

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dc.authorid0000-0002-5985-070X
dc.authorid0009-0004-5797-409X
dc.authorid0000-0002-8919-0482
dc.contributor.authorDinç, Ahmet
dc.contributor.authorYazıcı, Hilal
dc.contributor.authorYazıcı, Hülya
dc.date.accessioned2026-01-05T14:24:43Z
dc.date.available2026-01-05T14:24:43Z
dc.date.issued2025
dc.departmentFakülteler, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Tıbbi Biyoloji Ana Bilim Dalı
dc.description.abstractHereditary breast, ovarian, pancreas and prostate cancer (HBOC/HBOPC) syndromes remain a major global health concern, with BRCA1, BRCA2 and other high- or moderate-risk homologous recombi nation repair (HRR) gene variants driving a significant share of familial cancer risk. Beyond breast and ovarian sites, these mutations increase susceptibility to prostate, pancreatic, and other solid tumors, high lighting the syndromic nature of HBOPC. Advances in multigene panel testing (MPT), AI-supported variant classification, and polygenic risk scores (PRS) now enable more precise risk estimation, while functional reclassification and population-specific founder mutation mapping reduce uncertainty in un derrepresented groups. Emerging epigenetic and non-coding RNA biomarkers further strengthen early detection and treatment stratification. However, large-scale validation is still needed to translate these tools into equitable care. Risk-reducing surgeries, tailored surveillance, and targeted therapies—includ ing PARP inhibitors, immunotherapy, and homologous recombination deficiency (HRD)-based regi mens—have transformed management but require equitable access and culturally sensitive counseling to address psychosocial barriers and family communication challenges. Real-world data (RWD) and cross border variant databases are essential to bridge gaps between guidelines and practice, especially where founder effects and mosaicism complicate standard criteria. This review integrates current evidence on the genetic and molecular foundations, organ-specific management, evolving therapies, and ethical di mensions of HBOPC care. By combining multidisciplinary insights with AI, functional analyses, and real-world implementation strategies, this review highlights how next-generation precision oncology can deliver equitable, high-quality, and locally adapted prevention and treatment for families worldwide.
dc.identifier.citationDinç, A., Yazıcı, H., & Yazıcı, H. (2025). Hereditary breast, ovarian, pancreatic and prostate cancer syndrome: Multigene testing, multiomics, and risk management. Turkish Journal of Oncology, 40(4), pp. 332-348. https://doi.org/10.5505/tjo.2025.4643
dc.identifier.doi10.5505/tjo.2025.4643
dc.identifier.endpage348
dc.identifier.issn2717-8978
dc.identifier.issn1300-7467
dc.identifier.issue4
dc.identifier.scopusqualityQ4
dc.identifier.startpage332
dc.identifier.urihttps://doi.org/10.5505/tjo.2025.4643
dc.identifier.urihttps://hdl.handle.net/20.500.13055/1228
dc.identifier.volume40
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynak.otherESCI - Emerging Sources Citation Index
dc.institutionauthorYazıcı, Hülya
dc.institutionauthorid0000-0002-8919-0482
dc.language.isoen
dc.publisherTürk Radyasyon Onkolojisi Derneği
dc.relation.ispartofTurkish Journal of Oncology
dc.relation.publicationcategoryDiğer
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectBRCA1 & BRCA2
dc.subjectFounder Mutations
dc.subjectHereditary Breast Ovarian Pancreatic Prostate Cancer Syndrome
dc.subjectMultigene Panel
dc.subjectPolygenic Risk Score
dc.subjectPrecision Oncology
dc.titleHereditary breast, ovarian, pancreatic and prostate cancer syndrome: Multigene testing, multiomics, and risk management
dc.typeReview Article
dspace.entity.typePublication

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