Genomic Analysis of Breast Cancer

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

Deadline for manuscript submissions: 31 August 2025 | Viewed by 650

Special Issue Editors


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Guest Editor
Department of Breast and Endocrine Surgical Oncology, Graduate School of Medicine, Tohoku University, Sendai 980-8575, Japan
Interests: breast cancer; genomics; transcriptomics
Special Issues, Collections and Topics in MDPI journals

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Guest Editor
Department of Breast Surgical Oncology, School of Medicine, Showa University, Tokyo 142-8666, Japan
Interests: breast cancer; TNBC; mRNA analysis; drug development; clinical trials
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Over the past 20 years, advances in genomic analysis of breast cancer have allowed for the constant evolution of clinically relevant subtypes, from immunohistochemically defined groups to molecular profiles. Advanced comprehensive genomic profiling and multiple targeted therapeutics promoted research on molecular tumor characteristics and led to the development of a new approach for metastatic breast cancer (mBC). Broad implementation of comprehensive genomic profiling across an institution is feasible. During this period, the number of genotype selection trials for breast cancer has steadily increased.

While several independent studies suggest better outcomes for the use of molecularly targeted agents compared to conventional therapies, others did not improve outcomes. These conflicting results highlight one of the major problems in precision oncology: the accurate practical interpretation of biomarkers for patient selection.

There are still new opportunities for the improvement of precision medicine for mBC, as evidence supporting this approach is still missing. This is because effectively implementing such precision medicine is not easy and requires solutions that consider technical issues, inter- and intra-tumor diversity, and spatial and temporal evolution.

In addition, a better understanding of the role of genomic alterations and proteins in key signaling pathways in breast cancer progression is needed for more effective treatment.

This Special Issue focuses on the role of comprehensive genomic profiling in mBC, including both translational and clinical aspects of understanding them to find a potential strategy for breast cancer.

In this Special Issue, original research articles and reviews are welcome.

We look forward to your contributions.

Dr. Hiroshi Tada
Dr. Hiroko Masuda
Guest Editors

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Keywords

  • breast cancer
  • comprehensive genomic profiling
  • molecular-matched therapy

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Published Papers (1 paper)

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Research

11 pages, 393 KiB  
Article
BRCA Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) BRCA2 Variant
by Laura De Marchis, Alain Jonathan Gelibter, Giulia Mammone, Raffaele Angelo Madaio, Paolo Aretini, Maria De Bonis, Stefania Zampatti, Cristina Peconi, Daniele Guadagnolo, Annarita Vestri, Antonio Pizzuti, Emiliano Giardina, Ettore Domenico Capoluongo and Angelo Minucci
Cancers 2025, 17(12), 1906; https://doi.org/10.3390/cancers17121906 - 8 Jun 2025
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Abstract
Background/Objectives: Cancer risk-reducing strategies in Ashkenazi women carrying founder variants have a cost-effective effect on reducing cancer morbidity and mortality. The British and US guidelines recommend BRCA1/2 (BRCA) screening among Ashkenazi Jewish people to identify high-risk individuals. BRCA status has not [...] Read more.
Background/Objectives: Cancer risk-reducing strategies in Ashkenazi women carrying founder variants have a cost-effective effect on reducing cancer morbidity and mortality. The British and US guidelines recommend BRCA1/2 (BRCA) screening among Ashkenazi Jewish people to identify high-risk individuals. BRCA status has not been investigated yet in the Jewish community of Rome. Methods: Patients were selected from the Family Cancer Clinic of the Umberto I University Hospital of Rome, and 38 unrelated families (28 of Roman Jewish and 10 of Libyan Jewish origin) were enrolled, comprising 44 subjects diagnosed with breast and/or ovarian cancer. Genetic counseling and germline BRCA testing were conducted. Haplotype analysis was performed. Results: Of the probands, 26.5% (9/34) from 7/28 unrelated families (25%) in the Jewish community of Rome harbored the known BRCA2 c.7007G>C, p. (Arg2336Pro) variant (rs28897743). Genetic analysis of the four unrelated carriers revealed a shared haplotype, indicating a potential founder effect. The length of the haplotype might confirm the Roman community to be the oldest among Jewish communities in Europe. Conclusions: This study indicates the BRCA2 c.7007G>C variant found in the Jewish community of Rome to be a founder variant. Finally, we underline a pressing need to address the increased risk of carrying BRCA mutations among individuals with Jewish heritage, and to enhance genetic counseling and screening efforts in ethnic minorities that are not otherwise routinely reached. Full article
(This article belongs to the Special Issue Genomic Analysis of Breast Cancer)
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