Jul 2026· Brazilian Journal of Health Review· 0 citations· 1 references
TL;DR
Evidence shows that the interaction between genetic predisposition and environmental factors is a key determinant of breast carcinogenesis, underscoring the importance of understanding the underlying molecular mechanisms to improve prevention and care strategies.
Abstract
Breast cancer is the most common malignancy among women, representing a significant public health issue due to its high morbidity and mortality rates. Its etiology is multifactorial, involving hormonal, environmental, and behavioral factors, as well as—importantly—genetic factors linked to hereditary predisposition. Alterations in genes such as BRCA1, BRCA2, TP53, HER-2/neu, and CYP3A4 are associated with increased susceptibility to the disease, contributing to uncontrolled cell growth and tumor progression. Identifying these genetic alterations facilitates early diagnosis, the screening of high-risk individuals, and the adoption of more effective therapeutic strategies. In this context, nursing plays an essential role in health promotion, prevention, screening, early diagnosis, health education, and the comprehensive care of women affected by the disease. This study is a narrative literature review based on an analysis of scientific articles from databases and journals, aiming to examine the influence of genetic factors on breast cancer development and the implications for nursing care. Evidence shows that the interaction between genetic predisposition and environmental factors is a key determinant of breast carcinogenesis, underscoring the importance of understanding the underlying molecular mechanisms to improve prevention and care strategies. The study concludes that nurses play a fundamental role in the early identification of risk factors, patient guidance, support during treatment, and the implementation of actions that contribute to better clinical outcomes and quality of life.
This narrative review aims to present the major hereditary cancer syndromes associated with an increased breast cancer risk, and to highlight the evidence-based genotype-specific screening and treatment protocols.
D. Pușcașu, Lavinia Caba, B. Gafton et al.· Oncology Research· 0 citations
Evidence from recent studies conducted in Pakistan shows the immediate need for specific public health interventions, better genetic counseling infrastructure, and culturally appropriate mass awareness campaigns to lessen the breast cancer burden at a national level.
Rehana Kouser, Madiha Sadia, S. Abbasi· Journal of Human Centered Te...· 0 citations
The results of the study indicated that lifestyle, environmental, and familial history factors did not have a significant impact on the development of breast cancer among the participants, as the associated probability values were greater than the level of significance for all the three factors.
Anita Yemi-Odae Nelson, Cecilia James Sunday, Lucy E. Afahanam et al.· Discover Public Health· 0 citations
Background Genetic testing for likely pathogenic/pathogenic variants (PV) in BRCA1, BRCA2, and other cancer-associated genes plays a critical role in the diagnosis, prognosis, and management of breast and ovarian cancer (BCOC). Extending testing to healthy family members (HFM) of affected individuals enables early prevention strategies and timely referrals for enhanced screening, thereby improving cancer risk management. This study aimed to characterize the demographic profile and genetic findings among HFMs of BCOC patients in Estonia within routine clinical practice. Methods A retrospective analysis was conducted on 3,472 HFMs who underwent genetic testing. Demographic data were collected, and the presence of PVs was assessed. Statistical comparisons were made between individuals with and without known familial PVs, and between male and female participants, using descriptive statistics and proportion comparisons. Results Of the 3,472 HFMs tested, 87.6% were female and 12.4% male, with a mean age of 41.1 ± 13.0 years. Notably, 78.6% were younger than 51 years, the typical age for initiating standard screening. PVs were identified in 683 individuals (19.7%). Among those with a known familial PV (n = 1,009), 41.8% were carriers, compared to 8.0% among those without a known familial PV (n = 2,408). Males were more likely to be tested when a familial PV was known (26.6%) than when it was not (6.6%), and 34.0% of tested males were PV carriers. PVs were found in 23 different genes, with BRCA1/2 accounting for 58.4% of all PVs, followed by ATM, BRIP1, CHEK2, and PALB2. Conclusion The findings highlight the value of genetic testing in identifying at-risk individuals among HFMs of BCOC patients. The predominance of BRCA1/2 variants and the significant detection rate among younger individuals underscore the importance of early testing. The expansion of HFM testing in Estonia reflects increased public awareness and clinical integration of genetic risk assessment in cancer prevention strategies.
M. Tooming, Kadri Rekker, K. Toome et al.· Frontiers in Genetics· 0 citations
Colorectal cancer (CRC), encompassing both colon and rectal cancers, is one of the most prevalent cancers in the digestive system. It consistently ranks among the top three cancers in terms of both incidence and mortality, representing a major public health concern. Early prevention of CRC can significantly improve patient survival rates and quality of life. Therefore, identifying its causative factors is of paramount importance. A variety of factors, including diet, lifestyle, and genetics, are closely related to the occurrence of CRC. However, traditional research methods face numerous limitations when exploring the causal relationship between potential risk factors and CRC, resulting in slow progress and unmet expectations. Mendelian Randomization (MR) is an epidemiological technique that utilizes genetic variants as instrumental variables (IVs) to determine causal links between exposures and outcomes. By applying Mendelian inheritance laws, where alleles from parents are randomly assigned to offspring, MR analysis is less affected by environmental and behavioral factors and can effectively reduce confounding biases, thus enhancing the accuracy of causal inference. MR analysis is increasingly playing an important role in identifying CRC risk factors. This article reviews the relationship between potential causative factors and the risk of CRC, as well as the possible underlying mechanisms, and discusses the implications of research in this field for the early prevention, diagnosis, and treatment of CRC.
