Breast Cancer Ecosystem: Genomic and Proteomic Profiling

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (15 April 2024) | Viewed by 995

Special Issue Editor


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Guest Editor
Biomarker Imaging Research Laboratory, Sunnybrook Research Institute, Toronto, ON M4N 3M5, Canada
Interests: breast cancer; risk prognostication; proteomics; genomics; biomarker; heterogeneity; pathology; protein multiplexing; multi-omic analysis

Special Issue Information

Dear Colleagues,

Breast cancer is a heterogeneous disease. The classification of breast cancer ranges from various histopathological subtypes based on cell morphology and biomarker expressions to molecular intrinsic subtypes according to gene expression patterns. Previously, genetic testing was conducted to determine the presence of mutations of certain breast cancer susceptibility genes. Nowadays, molecular prognostic assays are conducted to predict long-term outcomes of the disease. In this Special Issue, we aim to build a collection of research works that focus on advances in our understanding of the initiation and progression of breast cancer, particularly on the characterization of cancer and the surrounding micro-environment and their role in driving aggressiveness and recurrence risk. Research studies related to the identification of genetic modifications, genomics, proteomics, epigenetics, biomarker testing, prognostic assays and multi-omic signatures in any stage of breast cancer development are welcomed.

Dr. Alison Cheung
Guest Editor

Manuscript Submission Information

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Keywords

  • genetics
  • genomics
  • proteomics
  • biomarkers
  • epigenetics
  • risk prognostication
  • heterogeneity
  • tumor microenvironment
  • spatial biology

Published Papers (1 paper)

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Research

16 pages, 418 KiB  
Article
Correlation Analysis of Genetic Mutations and Galectin Levels in Breast Cancer Patients
by Ella G. Markalunas, David H. Arnold, Avery T. Funkhouser, Julie C. Martin, Michael Shtutman, W. Jeffery Edenfield and Anna V. Blenda
Genes 2024, 15(6), 818; https://doi.org/10.3390/genes15060818 - 20 Jun 2024
Viewed by 758
Abstract
Galectins are innate immune system regulators associated with disease progression in cancer. This paper aims to investigate the correlation between mutated cancer-critical genes and galectin levels in breast cancer patients to determine whether galectins and genetic profiles can be used as biomarkers for [...] Read more.
Galectins are innate immune system regulators associated with disease progression in cancer. This paper aims to investigate the correlation between mutated cancer-critical genes and galectin levels in breast cancer patients to determine whether galectins and genetic profiles can be used as biomarkers for disease and potential therapy targets. Prisma Health Cancer Institute’s Biorepository provided seventy-one breast cancer samples, including all four stages spanning the major molecular subtypes and histologies. Hotspot mutation statuses of cancer-critical genes were determined using multiplex PCR in tumor samples from the same patients by Precision Genetics and the University of South Carolina Functional Genomics Core Facility. The galectin-1, -3, and -9 levels in patients’ sera were analyzed using Enzyme-linked Immunosorbent Assay (ELISA). An analysis was performed using JMP software to compare mean and median serum galectin levels between samples with and without specific cancer-critical genes, including pooled t-test, Wilcoxon Rank Sum Test, ANOVA, and Steel Dwass Test (α=0.05). Our analysis indicates that KIT mutations correlate with elevated serum levels of galectin-9 in patients with breast cancer. In patients with Luminal A subtype, FLT3 mutation correlates with lower serum galectin-1 and -9 levels and TP53 mutations correlate with higher serum galectin-3 levels. Patients with invasive ductal carcinoma had significantly higher serum galectin-3 levels than patients with ductal carcinoma in situ. Patients with both TP53 and PIK3CA mutations exhibit elevated serum galectin-3 levels, while patients with one or neither mutation show no significant difference in serum galectin-3 levels. In addition, metastatic breast cancer samples were more likely to have a KIT or PIK3CA mutation compared to primary breast cancer samples. The relationship between genetic mutations and galectin levels has the potential to identify appropriate candidates for combined therapy, targeting genetic mutations and galectins. Further understanding of the effect of genetic mutations and galectin levels on cancer progression and metastasis could aid in the search for biomarkers for breast cancer diagnosis, disease progression, and prognosis. Full article
(This article belongs to the Special Issue Breast Cancer Ecosystem: Genomic and Proteomic Profiling)
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