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Cancers
Special Issues
BRCA Associated Cancers: Latest Predictive and Therapeutic Approaches
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BRCA Associated Cancers: Latest Predictive and Therapeutic Approaches

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Therapy".

Deadline for manuscript submissions: 1 August 2025 | Viewed by 2438

Special Issue Editor

Dr. Melpomeni Kalofonou

E-Mail Website
Guest Editor
Centre for Bio-Inspired Technology, Institute of Biomedical Engineering, Imperial College London, London SW7 2AZ, UK
Interests: cancer technologies; diagnostics; liquid biopsy; sensing systems; lab-on-chip

Special Issue Information

Dear Colleagues, 

It is a pleasure to be Guest Editor for the upcoming Cancers Special Issue “BRCA Associated Cancers: Latest Predictive and Therapeutic Approaches”. The role of BRCA testing in the identification of an individual’s overall risk of developing certain cancer types, such as breast, ovarian, prostate and pancreatic cancer is widely recognized.

A plethora of clinical studies have presented various contributing factors to the higher prevalence of BRCA mutations in a population subset, such as personal or family history, ethnic background and early onset of cancer, where BRCA testing is recommended, also contributing to the therapeutic efficacy that treatment schemes such as PARP inhibitors could offer. This Special Issue highlights the role of BRCA testing from early risk assessment to options for treatment management, with the latest results of ongoing clinical studies being presented, demonstrating the clinical potential of various treatment options for BRCA-associated tumours, while investigating factors that contribute to the therapeutic response with significant future clinical relevance if integrated into the current clinical guidelines.

Dr. Melpomeni Kalofonou
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 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

  • BRCA
  • ovarian cancer
  • breast cancer
  • prostate cancer
  • pancreatic cancer
  • genetics
  • epigenetics

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Published Papers (2 papers)

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Research

Jump to: Review

13 pages, 253 KiB  
Article
BRCA1 and BRCA2 Mutations in Polish Women with Ductal Carcinoma In Situ
by Sylwia Feszak, Igor Jarosław Feszak, Wojciech Kluźniak, Dominika Wokołorczyk, Klaudia Stempa, Katarzyna Gliniewicz, Jan Uciński, Tomasz Huzarski, Tadeusz Dębniak, Jacek Gronwald, Jan Lubiński, Steven A. Narod and Cezary Cybulski
Cancers 2025, 17(4), 613; https://doi.org/10.3390/cancers17040613 - 11 Feb 2025
Viewed by 690
Abstract
Background/Objectives: Ductal carcinoma in situ (DCIS) is the most common non-invasive form of breast cancer. It is not clear to what extent DCIS is a part of the hereditary breast/ovarian cancer syndrome caused by BRCA1/2 mutations. Therefore, we investigated the association of [...] Read more.
Background/Objectives: Ductal carcinoma in situ (DCIS) is the most common non-invasive form of breast cancer. It is not clear to what extent DCIS is a part of the hereditary breast/ovarian cancer syndrome caused by BRCA1/2 mutations. Therefore, we investigated the association of BRCA1/2 mutations in patients with DCIS and assessed their impact on survival. Methods: We studied 564 Polish women with DCIS for six alleles in BRCA1 (c.181T>G, c.5266dupC, c.4035delA, c.3700_3704del5, c.68_69del and c.5251C>T) and four in BRCA2 (c.658_659del, c.3847_3848del, c.5946del and c.7913_7917del). To investigate the association of BRCA1/2 founder mutations with DCIS risk, we tested 4702 controls as a reference. To analyze survival, mutation carriers were followed for an average of 110 months. Results: A BRCA1 mutation was present in seven (1.24%) cases and in twenty-two (0.47%) controls (OR = 3.27, 95%CI 1.36 to 7.87, p = 0.01). A BRCA2 mutation was present in eight (1.42%) cases versus six (0.13%) controls (OR = 11.3, 95%CI 3.9 to 32.6, p < 0.0001). Three of the fifteen cases with BRCA1/2 mutations developed invasive ipsilateral or contralateral breast cancer, on average 6 years from the diagnosis of DCIS. There were no deaths reported among the 15 mutation carriers with DCIS. Conclusions: DCIS is a part of the hereditary breast/ovarian cancer syndrome caused by BRCA1/2 mutations. Women with DCIS should receive genetic counseling and testing for BRCA1/2 mutations. BRCA1/2 mutations may predispose women to a better DCIS prognosis, but further studies are needed. Full article
(This article belongs to the Special Issue BRCA Associated Cancers: Latest Predictive and Therapeutic Approaches)

Review

Jump to: Research

30 pages, 390 KiB  
Review
BRCA and Beyond: Impact on Therapeutic Choices Across Cancer
by Joshua Zhi Chien Tan, Zewen Zhang, Hui Xuan Goh and Joanne Ngeow
Cancers 2025, 17(1), 8; https://doi.org/10.3390/cancers17010008 - 24 Dec 2024
Viewed by 1245
Abstract
Background: Identifying patients with gBRCAm is crucial to facilitate screening strategies, preventive measures and the usage of targeted therapeutics in their management. This review examines the evidence for the latest predictive and therapeutic approaches in BRCA-associated cancers. Clinical Description: Data [...] Read more.
Background: Identifying patients with gBRCAm is crucial to facilitate screening strategies, preventive measures and the usage of targeted therapeutics in their management. This review examines the evidence for the latest predictive and therapeutic approaches in BRCA-associated cancers. Clinical Description: Data supports the use of adjuvant olaparib in patients with gBRCAm high-risk HER2-negative breast cancer. In advanced gBRCAm HER2-negative breast cancer, the PARPis talazoparib and olaparib have demonstrated benefit over standard chemotherapy. In ovarian cancer, olaparib, niraparib or rucaparib can be used as monotherapy in frontline maintenance. Olaparib and bevacizumab as a combination can also be used as frontline maintenance. In the relapsed platinum-sensitive setting, olaparib, niraparib and rucaparib are effective maintenance options in BRCAm patients who are PARPi naive. Both olaparib and rucaparib are effective options in BRCAm metastatic castrate-resistant prostate cancer (mCRPC). Evidence also exists for the benefit of PARPi combinations in mCRPC. In metastatic pancreatic cancer, olaparib can be used in gBRCAm patients who are responding to platinum chemotherapy. However, there may be a development of PARPi resistance. Understanding the pathophysiology that contributes to such resistance may allow the development of novel therapeutics. Combination therapy appears to have promising results in emerging trials. Seeking avenues for subsidised genetic testing can reduce the total costs of cancer management, leading to improve detection rates. Conclusion: Identifying breast, ovarian, pancreatic and prostate cancer patients with gBRCAm plays a crucial predictive role in selecting those who will benefit significantly from PARPi therapy. The use of PARPi in gBRCAm HBOC-related cancers has resulted in significant survival benefits. Beyond BRCA1/2, HRR gene assessment and the consideration of other cancer predisposition syndromes may allow more patients to be eligible for and benefit from targeted therapies. Full article
(This article belongs to the Special Issue BRCA Associated Cancers: Latest Predictive and Therapeutic Approaches)
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