Advanced Research on Breast Cancer Genes in Cancers

A special issue of Current Oncology (ISSN 1718-7729). This special issue belongs to the section "Oncology Biomarkers".

Deadline for manuscript submissions: 31 December 2025 | Viewed by 246

Special Issue Editor


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Guest Editor
1. Division of Medical Oncology, Juravinski Cancer Centre, Hamilton, ON L8V 1C3, Canada
2. Hamilton Health Sciences, Hamilton, ON L8V 1C3, Canada
Interests: breast cancer; cancer genetics

Special Issue Information

Dear Colleagues,

This Special Issue focuses on advanced research related to breast cancer susceptibility genes, including, but not limited to, BRCA1 and BRCA2. These genes play crucial roles in DNA repair mechanisms and significantly impact cancer development and progression. This Special Issue aims to highlight recent breakthroughs in understanding the genetic, molecular, and clinical aspects of mutations in BRCA1/2 and other key breast cancer-related genes across various cancers, such as breast, ovarian, pancreatic, and prostate cancer. We also aim to explore innovative diagnostic tools, targeted therapies, and predictive models for risk assessment. Additionally, this Special Issue will also address challenges and ethical considerations in genetic testing and counseling, providing a comprehensive overview for researchers, clinicians, and policymakers striving to improve patient outcomes.

Dr. Andrea Eisen
Guest Editor

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Keywords

  • breast cancer genes
  • BRCA1/2 mutations
  • cancer genomics
  • targeted therapies
  • precision medicine
  • genetic counseling

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Published Papers (1 paper)

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13 pages, 1762 KiB  
Article
Treatment Patterns, Clinical Outcomes and Quality of Life in BRCA1/2-Associated Breast Cancer Patients: A Retrospective Analysis
by Anna-Maria Parger, Paulina Gebhart, Daniela Muhr, Christian F. Singer and Yen Y. Tan
Curr. Oncol. 2025, 32(5), 269; https://doi.org/10.3390/curroncol32050269 - 2 May 2025
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Abstract
Background: Breast cancer (BC) patients with germline BRCA1/2 pathogenic variants (PVs) often face unique challenges compared to non-carriers. However, the impact of PVs on treatment patterns, clinical outcomes, and quality of life (QoL) remains insufficiently explored. This study aims to assess these [...] Read more.
Background: Breast cancer (BC) patients with germline BRCA1/2 pathogenic variants (PVs) often face unique challenges compared to non-carriers. However, the impact of PVs on treatment patterns, clinical outcomes, and quality of life (QoL) remains insufficiently explored. This study aims to assess these factors in these individuals. Methods: A retrospective analysis was conducted using data from the Medical University of Vienna Center for Familial Breast and Ovarian Cancer between 2011 and 2021. Among 1285 individuals identified, 338 were included (120 BRCA1 PVs, 47 BRCA2 PVs, and 171 non-carriers). Clinical data including treatment patterns and outcomes were collected; QoL was assessed in BRCA1/2 PV carriers using the SF-12 questionnaire. Results: Among 338 BC patients, BRCA1 PV carriers were significantly younger at disease onset and more likely to present with triple-negative BC, with higher Ki-67 (>10%) than BRCA2 or non-carriers. Platinum-based chemotherapy was more frequently administered to BRCA PV carriers for neoadjuvant treatment (OR 7.7, p < 0.001), and therapeutic bilateral mastectomy was more common in BRCA1 carriers (44.7%) compared to BRCA2 (37.8%, p = 0.114) and non-carriers (25.2%, p = 0.003). Epirubicin was the primary agent for adjuvant chemotherapy across all groups compared to other chemotherapeutic agents. QoL assessments revealed significant physical health challenges, particularly among those who underwent neoadjuvant chemotherapy and surgery, while mental health scores remained relatively high. Conclusions: This study highlights the distinct treatment patterns and tumor characteristics associated with BRCA1/2 carriers, including the impact of treatments on quality of life. Nevertheless, our findings ought to be interpreted with caution due to the small sample size. Larger prospective studies with more complete treatment data, including PARP inhibitor use, and further research on supportive care strategies are needed for this high-risk population. Full article
(This article belongs to the Special Issue Advanced Research on Breast Cancer Genes in Cancers)
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