Precision Medicine of Breast Cancer in the Molecular Era

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 July 2023) | Viewed by 3136

Special Issue Editor


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Guest Editor
Department of Pathology, Gangnam Severance Hospital, Yonsei University College of Medicine, Eonju-ro 211, Gangnam-gu, Seoul 06273, Korea
Interests: breast cancer; pathology; neoadjuvant chemotherapy; treatment response; tumor microenvironment; tumor-infiltrating lymphocytes; immune checkpoint blockade; molecular subtype; molecular analysis; genetics

Special Issue Information

Dear Colleagues,

Breast cancer is a global issue regardless of the socio-economic status of society. Early detection and surgical intervention as well as timely appropriate treatment and lifelong management are important for patient survival. Breast cancer is composed of heterogeneous disease groups that could be classified into several subgroups that require different treatment approaches for each one: luminal, HER2, and triple-negative breast cancer (TNBC). In particular, TNBC, defined as ER-, PR-, and HER2-negative breast cancer, could be further classified into variable subgroups based on their genetic characteristics which are also intimately associated with treatment response and patient prognosis. Neoadjuvant chemotherapy is now broadly performed for breast cancer and the tumor microenvironment, as well as the tumor itself, plays The introduction of immunotherapy in TNBC showed promising results and further prognostic factors should be investigated. The development of precision analytic tools enable the detection of high-risk patients and candidates for target therapy. Exploring diagnostic, prognostic, and predictive markers for breast cancer and the accumulation of the study results would create a valuable groundwork for future studies.

This Special Issue encourages researchers to cooperate and discuss the diagnosis and prognosis of breast cancer. In addition, any related topics will also be welcomed.

Dr. Yoon Jin Cha
Guest Editor

Manuscript Submission Information

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Keywords

  • breast cancer
  • pathology
  • radiology: US, MRI, PET-CT
  • surgery
  • neoadjuvant chemotherapy
  • adjuvant chemotherapy
  • radiation therapy
  • immunotherapy
  • PD-L1
  • molecular subtype
  • hormone-positive breast cancer
  • genetics
  • HER2-postiive breast cancer
  • triple-negative breast cancer
  • tumor-infiltrating lymphocytes
  • metastatic breast cancer
  • recurrent breast cancer
  • tumor microenvironment

Published Papers (2 papers)

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Research

12 pages, 1604 KiB  
Article
Effects of Cortactin Expression on Prognosis in Patients with Breast Cancer
by Hwangkyu Son, Seungyun Jee, Hyebin Cha, Kihyuk Song, Seongsik Bang, Hyunsung Kim, Seungsam Paik, Hosub Park and Jaekyung Myung
Diagnostics 2023, 13(18), 2876; https://doi.org/10.3390/diagnostics13182876 - 7 Sep 2023
Cited by 1 | Viewed by 944
Abstract
Background: Cortactin is overexpressed in several types of invasive cancers. However, the role of cortactin expression in breast cancer prognosis has not been sufficiently elucidated. Therefore, we investigated the clinicopathological significance of cortactin in breast cancer. Methods: Tissue microarrays were prepared from a [...] Read more.
Background: Cortactin is overexpressed in several types of invasive cancers. However, the role of cortactin expression in breast cancer prognosis has not been sufficiently elucidated. Therefore, we investigated the clinicopathological significance of cortactin in breast cancer. Methods: Tissue microarrays were prepared from a cohort of 506 patients with breast cancer, and cortactin expression was evaluated using immunohistochemistry. The cortactin immunoreactivity score (IRS) was quantified as the product of the intensity score and the percentage of immunoreactive cells. Cortactin expression was classified as low or high using the IRS (IRS ≤ 4 as a cortactin-low value and IRS > 4 as a cortactin-high value). We compared cortactin expression and clinicopathological factors according to the molecular subtypes of breast cancer. Results: Of 506 breast cancer cases, 333 and 173 showed high and low cortactin expression, respectively. Of the 333 patients with high cortactin expression, 204, 58, and 71 had luminal, HER2, and triple-negative breast cancer (TNBC), respectively. In the univariate and multivariate analyses of patients with TNBC, cortactin expression was found to be a significant prognostic factor for overall survival (OS). However, in all patients with non-TNBC, cortactin expression had no significant association with prognosis or overall survival. Survival curves revealed that among patients with TNBC, the high-cortactin group had a better prognosis in disease-free survival and OS. Conclusions: Cortactin expression may be a good biomarker for predicting the prognosis of patients with TNBC. Full article
(This article belongs to the Special Issue Precision Medicine of Breast Cancer in the Molecular Era)
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11 pages, 1224 KiB  
Article
Development of a Detection System for ESR1 Mutations in Circulating Tumour DNA Using PNA-LNA-Mediated PCR Clamping
by Yuki Kojima, Emi Noguchi, Tomomi Yoshino, Shigehiro Yagishita, Shu Yazaki, Hitomi S. Okuma, Tadaaki Nishikawa, Maki Tanioka, Kazuki Sudo, Tatsunori Shimoi, Ayaka Kazama, Hiroshi Terasaki, Sachiro Asano, Yasuhiro Fujiwara, Akinobu Hamada, Kenji Tamura and Kan Yonemori
Diagnostics 2023, 13(12), 2040; https://doi.org/10.3390/diagnostics13122040 - 12 Jun 2023
Cited by 2 | Viewed by 1746
Abstract
Although circulating tumour DNA (ctDNA)-based next-generation sequencing (NGS) is a less invasive method for assessing ESR1 mutations that are essential mechanisms of endocrine therapy resistance in patients with oestrogen receptor-positive breast cancer, adequate amounts of DNA are required to assess polyclonal ESR1 mutations. [...] Read more.
Although circulating tumour DNA (ctDNA)-based next-generation sequencing (NGS) is a less invasive method for assessing ESR1 mutations that are essential mechanisms of endocrine therapy resistance in patients with oestrogen receptor-positive breast cancer, adequate amounts of DNA are required to assess polyclonal ESR1 mutations. By combining a peptide nucleic acid and locked nucleic acid polymerase chain reaction (PNA-LNA PCR) clamping assay, we have developed a novel detection system to screen for polyclonal ESR1 mutations in ctDNA. A validation assay was prospectively performed on clinical samples and compared with the NGS results. The PNA-LNA PCR clamp assay was validated using six and four blood samples in which ESR1 mutations were detected by NGS and no mutations were detected, respectively. The PNA-LNA assay results were comparable with those of NGS. We prospectively assessed the concordance between the PNA-LNA PCR clamp method and NGS. Using the PNA-LNA PCR clamp method, ESR1 mutations were detected in 5 out of 18 samples, including those in which mutations were not detected by NGS due to small amounts of ctDNA. The PNA-LNA PCR clamping method is a highly sensitive and minimally invasive assay for polyclonal ESR1 mutation detection in the ctDNA of patients with breast cancer. Full article
(This article belongs to the Special Issue Precision Medicine of Breast Cancer in the Molecular Era)
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