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Current Oncology
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Advanced Research on Breast Cancer Genes in Cancers
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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 2026 | Viewed by 7273

Special Issue Editor

Dr. Andrea Eisen

E-Mail Website
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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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

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

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Published Papers (6 papers)

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Research

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9 pages, 555 KB  
Communication
Germline BRCA1/2 Variants in Polish Patients with Family History of Breast and Ovarian Cancer: Prevalence, CNV Detection, and Identification of a Novel Loss-of-Function Mutation
by Sebastian Skoczylas, Tomasz Płoszaj, Izabela Dróżdż, Hanna Moczulska, Marcin Serafin, Katarzyna Piekarska, Olga Wojtyczka, Karolina Żeżawska and Agnieszka Zmysłowska
Curr. Oncol. 2026, 33(1), 10; https://doi.org/10.3390/curroncol33010010 - 24 Dec 2025
Abstract
Background/Objectives: Pathogenic and likely pathogenic variants in the BRCA1 and BRCA2 genes are associated with a significantly increased risk of breast and/or ovarian cancer. We investigated genetic variants in a cohort of 450 unaffected individuals with a family history of breast and/or ovarian [...] Read more.
Background/Objectives: Pathogenic and likely pathogenic variants in the BRCA1 and BRCA2 genes are associated with a significantly increased risk of breast and/or ovarian cancer. We investigated genetic variants in a cohort of 450 unaffected individuals with a family history of breast and/or ovarian cancer, involving at least one first-degree relative. Methods: Next-generation sequencing (NGS) was used to analyze the coding regions of these two genes, with copy number variation (CNV) analysis. Results: A total of 16 unique to our cohort variants classified as pathogenic or likely pathogenic were identified in 22 patients, including one novel loss-of-function variant in BRCA1 gene. Furthermore, we identified a deletion of exon 21 in the BRCA1 gene in two patients. Conclusions: These results emphasize the difficulties involved in molecular diagnostics and indicate the need for further research into new predictive models for patients with hereditary breast and ovarian cancer. Full article
(This article belongs to the Special Issue Advanced Research on Breast Cancer Genes in Cancers)
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12 pages, 1962 KB  
Article
The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant in BRCA1
by Joanne Kotsopoulos, Adriana I. Apostol, Kelly Metcalfe, Dimitri Jorgji, Cezary Cybulski, Jacek Gronwald, Jan Lubinski, Pal Moller, Raymond H. Kim, Amber Aeilts, Teresa Ramón y Cajal, Tuya Pal, Louise Bordeleau, Beth Y. Karlan, Christian F. Singer, William D. Foulkes, Fergus J. Couch, Dana Zakalik, Robert Fruscio, Nadine Tung, Ping Sun, Alvaro N. Monteiro, Steven A. Narod and Mohammad R. Akbariadd Show full author list remove Hide full author list
Curr. Oncol. 2025, 32(12), 705; https://doi.org/10.3390/curroncol32120705 - 15 Dec 2025
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Abstract
Background: Carriers of a pathogenic variant (PV) in BRCA1 face a high risk of breast cancer. This study estimated the risk of developing breast cancer according to mutation type and location. Methods: BRCA1 carriers with no personal history of breast cancer or bilateral [...] Read more.
Background: Carriers of a pathogenic variant (PV) in BRCA1 face a high risk of breast cancer. This study estimated the risk of developing breast cancer according to mutation type and location. Methods: BRCA1 carriers with no personal history of breast cancer or bilateral mastectomy were included. Detailed information on clinical and family history was collected by questionnaire. Survival analysis was used to estimate 15-year cumulative risk according to PV type and location. Results: A total of 3677 BRCA1 carriers were followed for a mean of 7.2 years (range 0.1–15.0 years); 481 incident breast cancers were documented. Overall, the 15-year cumulative incidence was 25%. Risk estimates varied by exon, ranging from 9% (exon 21) to 19% (exon 12) to 36% (exon 15); however, strata were small. Carriers of four founder mutations common in Eastern Europe (c.5263_5264insC, c.181T > G, c.66_67delAG and c.4034delA) experienced a lower-than-expected cancer risk (15.9–24.4%) compared to other PVs (28.8%) (p = 0.02). Conclusions: Although our data suggests some variability in penetrance based on specific BRCA1 PV, this was based on a large number of founder mutations. Breast cancer management strategies should continue to be based on comprehensive risk assessment. Full article
(This article belongs to the Special Issue Advanced Research on Breast Cancer Genes in Cancers)
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12 pages, 1106 KB  
Article
Trends in the Utilization of BRCA1 and BRCA2 Testing After the Introduction of a Publicly Funded Genetic Testing Program
by Fahima Dossa, Nancy N. Baxter, Rinku Sutradhar, Tari Little, Lea Velsher, Jordan Lerner-Ellis, Andrea Eisen and Kelly Metcalfe
Curr. Oncol. 2025, 32(8), 439; https://doi.org/10.3390/curroncol32080439 - 6 Aug 2025
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Abstract
Purpose: To effectively reduce cancer burden, genetic testing programs should identify high-risk individuals prior to cancer development, when risk-reduction strategies can be implemented. We evaluated trends in BRCA1/BRCA2 testing use after implementation of a publicly funded testing program. Methods: We conducted [...] Read more.
Purpose: To effectively reduce cancer burden, genetic testing programs should identify high-risk individuals prior to cancer development, when risk-reduction strategies can be implemented. We evaluated trends in BRCA1/BRCA2 testing use after implementation of a publicly funded testing program. Methods: We conducted a retrospective, near population-based study of women who underwent BRCA1/BRCA2 testing in Ontario, Canada, (2007–2016) (n = 15,986). Temporal trends were evaluated using linear and Poisson regression. Results: Although annual utilization of testing increased over time (p < 0.001), mean age at testing increased from 49.9 years (SD 13.8) in 2007 to 53.8 years (SD 13.7) in 2016 (p < 0.001). The proportion of women with a cancer history at testing also increased from 53.5% in 2007 to 66.3% in 2015 (p < 0.001); the proportion of women free from breast cancer did not change significantly (49.2% in 2007 versus 45.1% in 2015, p = 0.90). As a proportion of all tested, those with breast cancer tested within 3 months of diagnosis increased over time (0.39% of tests in 2007 versus 13.6% of tests in 2015; p < 0.001). Conclusions: While the institution of a publicly funded genetic testing program was associated with rising utilization, increasing age at testing and decreasing testing of unaffected women suggest limitations in identifying high-risk individuals eligible for risk-reduction. Full article
(This article belongs to the Special Issue Advanced Research on Breast Cancer Genes in Cancers)
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19 pages, 987 KB  
Article
Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action
by Evan Weber, Carlos A. Carmona-Gonzalez, Melanie Boucher, Andrea Eisen, Kara Laing, Jennifer Melvin, Kasmintan A. Schrader, Sandeep Sehdev, Stephanie M. Wong and Karen A. Gelmon
Curr. Oncol. 2025, 32(6), 290; https://doi.org/10.3390/curroncol32060290 - 22 May 2025
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Abstract
Pathogenic variants in breast cancer predisposition genes are associated with poor clinical outcomes but also offer an opportunity for more individualized therapeutic pathways. Given increasing knowledge, improvements in germline genetic testing efficiency, and the availability of novel systemic targeted treatment options, the importance [...] Read more.
Pathogenic variants in breast cancer predisposition genes are associated with poor clinical outcomes but also offer an opportunity for more individualized therapeutic pathways. Given increasing knowledge, improvements in germline genetic testing efficiency, and the availability of novel systemic targeted treatment options, the importance of appropriately identifying patients for testing has never been greater. A pan-Canadian expert working group (EWG) consisting of 10 healthcare professionals (HCPs) was convened to review recent international guidelines for germline genetic testing in breast cancer and develop Canadian recommendations. The group identified four clinical questions to address which patients should undergo testing, what approaches should be used, how patients should be counselled, and what steps are needed for implementation. In response to these questions, the EWG agreed upon 12 recommendations that emphasized broader incorporation of germline genetic testing and more standardized, streamlined testing and counselling approaches. The group also offered multiple suggestions to support effective and equitable implementation across Canada. These recommendations provide guidance for HCPs and represent a call to action for the Canadian government and other organizations to support genetic testing pathways, drug access, and ultimately improved outcomes for patients with breast cancer and their families. Full article
(This article belongs to the Special Issue Advanced Research on Breast Cancer Genes in Cancers)
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11 pages, 1762 KB  
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
Viewed by 2003
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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10 pages, 824 KB  
Case Report
A Novel ATRIP Mutation Detected in an Iranian Family with Familial Clustering of Breast Cancer: A Case Report
by Neda Zamani, Mehar Chahal, Iman Salahshourifar, Reiyhane Talebian and Mohammad R. Akbari
Curr. Oncol. 2025, 32(12), 711; https://doi.org/10.3390/curroncol32120711 - 17 Dec 2025
Viewed by 130
Abstract
Purpose: ATRIP (ATR-interacting protein) is a critical partner of ATR (ataxia telangiectasia and Rad3-related). The ATR-ATRIP heterodimer plays an essential role in initiating homologous recombination repair (HRR) during replication stress and inducing double-stranded DNA breaks following unresolved stalled replication forks. Our team recently [...] Read more.
Purpose: ATRIP (ATR-interacting protein) is a critical partner of ATR (ataxia telangiectasia and Rad3-related). The ATR-ATRIP heterodimer plays an essential role in initiating homologous recombination repair (HRR) during replication stress and inducing double-stranded DNA breaks following unresolved stalled replication forks. Our team recently identified ATRIP as a novel breast cancer susceptibility gene candidate through whole-exome sequencing (WES) of familial breast cancer patients and healthy controls from the Polish founder population, with subsequent validation in both Polish and British cohorts. In the present study, we report for the first time the detection of a novel deleterious mutation in ATRIP among several members of an Iranian family with clustering of breast cancer who were negative for mutations in the already known breast cancer risk genes. Methods: Six family members underwent germline DNA testing by WES, following initial negative results from multigene panel testing. Candidate variants were confirmed by Sanger sequencing and assessed according to ACMG guidelines. Results: We detected a novel ATRIP frameshift mutation (NM_130384.3:c.1033delC) in four of six family members that were tested, including two individuals affected with breast cancer. No pathogenic variants were found in other known cancer susceptibility genes. Conclusions: This is the first report of a deleterious ATRIP mutation in an Iranian family with familial breast cancer, suggesting a potential role of ATRIP in hereditary breast cancer. Further studies are required to confirm the role of ATRIP in breast cancer susceptibility, refine risk assessment, and evaluate potential personalized therapeutic strategies. In the interim, genetic counseling for ATRIP mutation carriers should proceed with caution, given current limitations in clinical interpretation. Full article
(This article belongs to the Special Issue Advanced Research on Breast Cancer Genes in Cancers)
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