دورية أكاديمية
أعرض في EDS

Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.

التفاصيل البيبلوغرافية
العنوان: Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.
المؤلفون: Barili V; Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy., Ambrosini E; Medical Genetics, University Hospital of Parma, 43126 Parma, Italy., Bortesi B; Medical Oncology Unit, University Hospital of Parma, 43126 Parma, Italy., Minari R; Medical Oncology Unit, University Hospital of Parma, 43126 Parma, Italy., De Sensi E; Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy., Cannizzaro IR; Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy., Taiani A; Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy., Michiara M; Medical Oncology Unit, University Hospital of Parma, 43126 Parma, Italy.; Breast Unit, University Hospital of Parma, 43126 Parma, Italy., Sikokis A; Medical Oncology Unit, University Hospital of Parma, 43126 Parma, Italy.; Breast Unit, University Hospital of Parma, 43126 Parma, Italy., Boggiani D; Medical Oncology Unit, University Hospital of Parma, 43126 Parma, Italy.; Breast Unit, University Hospital of Parma, 43126 Parma, Italy., Tommasi C; Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.; Medical Oncology Unit, University Hospital of Parma, 43126 Parma, Italy.; Breast Unit, University Hospital of Parma, 43126 Parma, Italy., Serra O; Medical Oncology Unit, University Hospital of Parma, 43126 Parma, Italy.; Breast Unit, University Hospital of Parma, 43126 Parma, Italy., Bonatti F; Medical Oncology Unit, University Hospital of Parma, 43126 Parma, Italy., Adorni A; Medical Oncology Unit, University Hospital of Parma, 43126 Parma, Italy., Luberto A; Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy., Caggiati P; Medical Genetics, University Hospital of Parma, 43126 Parma, Italy., Martorana D; Medical Genetics, University Hospital of Parma, 43126 Parma, Italy., Uliana V; Medical Genetics, University Hospital of Parma, 43126 Parma, Italy., Percesepe A; Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.; Medical Genetics, University Hospital of Parma, 43126 Parma, Italy., Musolino A; Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.; Medical Oncology Unit, University Hospital of Parma, 43126 Parma, Italy.; Breast Unit, University Hospital of Parma, 43126 Parma, Italy., Pellegrino B; Medical Oncology Unit, University Hospital of Parma, 43126 Parma, Italy.; Breast Unit, University Hospital of Parma, 43126 Parma, Italy.
المصدر: Genes [Genes (Basel)] 2024 Feb 08; Vol. 15 (2). Date of Electronic Publication: 2024 Feb 08.
نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Basel : MDPI
مواضيع طبية MeSH: Genes, BRCA2* , Ovarian Neoplasms*/pathology, Female ; Humans ; Poly(ADP-ribose) Polymerase Inhibitors/pharmacology ; Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use ; Recombinational DNA Repair ; DNA Breaks, Double-Stranded ; Poly(ADP-ribose) Polymerases/genetics
مستخلص: Germline variants occurring in BRCA1 and BRCA2 give rise to hereditary breast and ovarian cancer (HBOC) syndrome, predisposing to breast, ovarian, fallopian tube, and peritoneal cancers marked by elevated incidences of genomic aberrations that correspond to poor prognoses. These genes are in fact involved in genetic integrity, particularly in the process of homologous recombination (HR) DNA repair, a high-fidelity repair system for mending DNA double-strand breaks. In addition to its implication in HBOC pathogenesis, the impairment of HR has become a prime target for therapeutic intervention utilizing poly (ADP-ribose) polymerase (PARP) inhibitors. In the present review, we introduce the molecular roles of HR orchestrated by BRCA1 and BRCA2 within the framework of sensitivity to PARP inhibitors. We examine the genetic architecture underneath breast and ovarian cancer ranging from high- and mid- to low-penetrant predisposing genes and taking into account both germline and somatic variations. Finally, we consider higher levels of complexity of the genomic landscape such as polygenic risk scores and other approaches aiming to optimize therapeutic and preventive strategies for breast and ovarian cancer.
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معلومات مُعتمدة: Fondazione Emma ed Ernesto Rulfo per la Genetica Medica; BANDO DI ATENEO PER LA RICERCA 2022 from University of Parma
فهرسة مساهمة: Keywords: BRCA1 and BRCA2; hereditary breast and ovarian cancer (HBOC) syndrome; homologous recombination deficiency (HRD); poly (ADP-ribose) polymerase (PARP) inhibitors
المشرفين على المادة: 0 (Poly(ADP-ribose) Polymerase Inhibitors)
EC 2.4.2.30 (Poly(ADP-ribose) Polymerases)
تواريخ الأحداث: Date Created: 20240224 Date Completed: 20240226 Latest Revision: 20240615
رمز التحديث: 20240616
مُعرف محوري في PubMed: PMC10888198
DOI: 10.3390/genes15020219
PMID: 38397209
قاعدة البيانات: MEDLINE
الوصف
تدمد:2073-4425
DOI:10.3390/genes15020219