Breast cancer is a common malignancy among women worldwide. Regardless of the economic status of a country, breast cancer poses a burden in prevention, diagnosis and treatment. Developed countries such as the U.S. have high incidence and mortality rates of breast cancer. Although low incidence rates are observed in developing countries, the mortality rate is on the rise implying that low- to middle-income countries lack the resources for preventative screening for early detection and adequate treatment resources. The differences in incidence between countries can be attributed to changes in exposure to environmental risk factors, behaviour and lifestyle factors of the different population groups. Genomic modifications are an important factor that significantly alters the risk profile of breast tumourigenesis. The incidence of early-onset breast cancer is increasing and evidence shows that early onset of breast cancer is far more aggressive than late onset of the disease; possibly due to the difference in genetic alterations or tumour biology. Alternative splicing is a pivotal factor in the progressions of breast cancer. It plays a significant role in tumour prognosis, survival and drug resistance; hence, it offers a valuable option as a therapeutic target. In this review, the differences in breast cancer incidence and mortality rates in developed countries will be compared to low- to middle-income countries. The review will also discuss environmental and lifestyle risk factors, and the underlying molecular mechanisms, genetic variations or mutations and alternative splicing that may contribute to the development and novel drug targets for breast cancer.
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Breast Cancer Res
January 2025
Servicio de Oncología, Centro Universitario Contra el Cáncer (CUCC), Hospital Universitario "Dr. José Eleuterio González", Universidad Autónoma de Nuevo León, 66451, Monterrey, Nuevo León, México.
Background: Hereditary predisposition to breast and ovarian cancer syndrome (HBOC) is a pathological condition with increased cancer risk, including breast (BC), ovarian cancer (OC), and others. HBOC pathogenesis is caused mainly by germline pathogenic variants (GPV) in BRCA1 and BRCA2 genes. However, other relevant genes are related to this syndrome diagnosis, prognosis, and treatment, including TP53, PALB2, CHEK2, ATM, etc.
View Article and Find Full Text PDFBioData Min
January 2025
The Department of Computational Biomedicine, Cedars-Sinai Medical Center, Los Angeles, CA, 90069, USA.
Background: With recent advances in single cell technology, high-throughput methods provide unique insight into disease mechanisms and more importantly, cell type origin. Here, we used multi-omics data to understand how genetic variants from genome-wide association studies influence development of disease. We show in principle how to use genetic algorithms with normal, matching pairs of single-nucleus RNA- and ATAC-seq, genome annotations, and protein-protein interaction data to describe the genes and cell types collectively and their contribution to increased risk.
View Article and Find Full Text PDFJ Transl Med
January 2025
Department of Pathology, Renmin Hospital of Wuhan University, 238 Jiefang-Road, Wuchang District, Wuhan, 430060, P. R. China.
With breast cancer being the most common tumor among women in the world today, it is also the leading cause of cancer-related deaths. Standard treatments include chemotherapy, surgery, endocrine therapy, and targeted therapy. However, the heterogeneity, drug resistance, and poor prognosis of breast cancer highlight an urgent need for further exploration of its underlying mechanisms.
View Article and Find Full Text PDFBMC Psychiatry
January 2025
The First Hospital of Jilin University, Changchun, Jilin Province, China.
Purpose: Breast cancer, as a stressful event, profoundly impacts the entire family, especially patients and their spouses. This study used a dyadic analysis approach to explore the dyadic effects of illness perception on the fear of cancer recurrence (FCR) and whether maladaptive cognitive-emotional regulation strategies acted as a mediator in breast cancer patient-spouse dyads.
Methods: This was a cross-sectional study, and 202 dyads of breast cancer patients and their spouses were enrolled.
BMC Womens Health
January 2025
Institute of Applied Nursing Science, School of Health, Eastern Switzerland University of Applied Sciences, Neumarkt 3, Vadianstrasse 29, St. Gallen, 9000, Switzerland.
Purpose: Women with breast cancer face a high degree of uncertainty. Trust between health providers and patients has been shown to improve patient quality of life and may enhance clinical outcomes. This study aimed to explore the meaning of trust along the treatment pathway.
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