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Precision Medicine for Breast Cancer
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Precision Medicine for Breast Cancer

A special issue of Journal of Personalized Medicine (ISSN 2075-4426).

Deadline for manuscript submissions: closed (20 August 2022) | Viewed by 2170

Special Issue Editor

Dr. Maria A. Loizidou

E-Mail Website
Guest Editor
Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
Interests: cancer genetics; personalized medicine; pharmacogenetics; genetic testing; molecular diagnostics

Special Issue Information

Dear Colleagues,

Breast cancer is considered a global public health priority. It has recently overtaken lung cancer as the world's mostly commonly diagnosed cancer. Over recent decades, considerable efforts have been made to identify risk factors associated with the disease as well as to improve breast cancer detection and treatment.  

Precision medicine, the approach to the diagnosis, treatment and prevention of diseases that considers interindividual variability in genetic, environmental and lifestyle factors, has recently found its application in breast cancer. Advances in omics technologies have taken us a step closer towards integrating precision medicine into women’s healthcare and transforming breast cancer diagnosis and management from a one-size-fits-all approach to individualized screening and treatment.

Over the past few years, personalized approaches to the prevention or early detection of breast cancer have emerged as highly promising strategies. In addition, the use of genomics and molecular diagnostics to direct the selection of the most appropriate treatment has become an important component of breast cancer care. These advances have had a major impact on breast cancer patients’ quality of life and survival.

This Special Issue of the Journal of Personalized Medicine aims to highlight the latest research on:

  • The estimation of individualized breast cancer risk based on genetic, lifestyle and environmental  factors;
  • Risk-based breast cancer prevention and screening programmes;
  • Personalized treatments for breast cancer including immunotherapy, targeted therapies and postoperative radiation therapy.

Dr. Maria A. Loizidou
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 short 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. Journal of Personalized Medicine is an international peer-reviewed open access monthly 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 2600 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
  • precision medicine
  • prevention
  • screening
  • biomarkers
  • targeted treatment
  • pharmacogenetics

Published Papers (1 paper)

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Research

10 pages, 1138 KiB  
Article
Alterations in Homologous Recombination-Related Genes and Distinct Platinum Response in Metastatic Triple-Negative Breast Cancers: A Subgroup Analysis of the ProfiLER-01 Trial
by Elise Bonnet, Véronique Haddad, Stanislas Quesada, Kim-Arthur Baffert, Audrey Lardy-Cléaud, Isabelle Treilleux, Daniel Pissaloux, Valéry Attignon, Qing Wang, Adrien Buisson, Pierre-Etienne Heudel, Thomas Bachelot, Armelle Dufresne, Lauriane Eberst, Philippe Toussaint, Valérie Bonadona, Christine Lasset, Alain Viari, Emilie Sohier, Sandrine Paindavoine, Valérie Combaret, David Pérol, Isabelle Ray-Coquard, Jean-Yves Blay and Olivier Trédanadd Show full author list remove Hide full author list
J. Pers. Med. 2022, 12(10), 1595; https://doi.org/10.3390/jpm12101595 - 27 Sep 2022
Cited by 5 | Viewed by 1694
Abstract
Background: a specific subset of metastatic triple-negative breast cancers (mTNBC) is characterized by homologous recombination deficiency (HRD), leading to enhanced sensitivity to platinum-based chemotherapy. Apart from mutations in BRCA1/2 genes, the evaluation of other HRD-related alterations has been limited to date. As such, [...] Read more.
Background: a specific subset of metastatic triple-negative breast cancers (mTNBC) is characterized by homologous recombination deficiency (HRD), leading to enhanced sensitivity to platinum-based chemotherapy. Apart from mutations in BRCA1/2 genes, the evaluation of other HRD-related alterations has been limited to date. As such, we analyzed data from mTNBC patients enrolled in the ProfiLER-01 study to determine the prevalence of alterations in homologous recombination-related (HRR) genes and their association with platinum sensitivity. Methods: next-generation sequencing and promoter methylation of BRCA1 and RAD51C were performed on tumors from patients with mTNBC, using a panel of 19 HRR genes. Tumors were separated into three groups based on their molecular status: mutations in BRCA1/2, mutations in other HRR genes (BRCA1/2 excluded) or BRCA1/RAD51C promoter methylation and the absence of molecular alterations in HRR genes (groups A, B and C, respectively). Sensitivity to platinum-based chemotherapy was evaluated through the radiological response. Results: mutations in BRCA1/2 were detected in seven (13.5%) patients, while alterations in other HRR genes or hypermethylation in BRCA1 or RAD51C were reported in 16 (30.7%) patients; furthermore, no alteration was found in the majority of patients (n = 29; 55.8%). Among 27 patients who received platinum-based chemotherapy, the disease control rate was 80%, 55% and 18% (groups A, B and C, respectively; p = 0.049). Regarding group B, patients with disease control exhibited mutations in FANCL, FANCA and the RAD51D genes or RAD51C methylation; Conclusion: mutations in HRR genes and epimutations in RAD51C were associated with disease control through platinum-based chemotherapy. As such, apart from well-characterized alterations in BRCA1/2, a more comprehensive evaluation of HRD should be considered in order to enlarge the selection of patients with mTNBC that could benefit from platinum-based chemotherapy. Full article
(This article belongs to the Special Issue Precision Medicine for Breast Cancer)
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