The influence of genetic factors on the development of breast cancer with emphasis on nursing care

High-Penetrance Susceptibility Genes in Hereditary Breast Cancer Syndromes: An Updated Review on Clinical Approach

: Breast cancer remains the most prevalent malignancy worldwide, ranking second in terms of cancer-related mortality. While exposure to modifiable risk factors, variations in screening efficacy, and inaccessibility to early-stage diagnosis contrast, an increased focus has been directed toward the study of its genetic profiles; particularly those attributed to germline pathogenic variants. 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. We examined current published literature and synthesized evidence from randomized controlled trials, observational studies and current clinical guidelines. The significance of genetic testing in breast cancer extends beyond prognostic, diagnostic and risk-assessment utility, with major contributions in therapeutic decision-making. Well-defined criteria for genetic testing are established, encompassing age, familial clustering of cancer, or tumor subtype. The most prevalent hereditary cancer syndrome is the Hereditary Breast and Ovarian Cancer (HBOC) syndrome, driven by mutations in the BRCA1 , BRCA2, and PALB2 genes, while other syndromes, less prevalent but with an increased risk of breast cancer development, like Li-Fraumeni syndrome and Peutz-Jeghers syndrome, arise from mutations in tumor suppressor genes. Despite the contrast in penetrance and risk profiles between the two categories, surveillance should be initiated at early ages, across all syndromes. The therapeutic approach is based on PARP (poly-(adenosine diphosphate–ribose) polymerase (PARP)) inhibitors for BRCA1/2 and PALB2 carriers, while in cases with TP53 mutations, radiotherapy is contraindicated, due to the risk of radiation-induced secondary malignancies. Germline pathogenic variant testing in high-penetrance susceptibility genes serves as the cornerstone of personalized, risk-stratified breast cancer management, enabling prevention, surveillance, and case-specific therapeutic decision-making. The broader integration of multigene panel testing and genetic counselling into routine cancer care remains a fundamental step toward optimizing outcomes across hereditary breast cancer syndromes.

Risk Factors for Breast Cancer in Pakistani Women: A Review of Current Evidence

The most reported malignancy in women of Pakistan is breast cancer. About one in nine females suffers from this disease, that contributes largely to mortality. The burden of the disease here is much more than in any other country of South Asia, with such salient features as earlier age of onset and late-stage presentation. This paper aimed to synthesize evidence from recent studies conducted in Pakistan on risk factors for breast cancer. Lifestyle determinants such as obesity, physically inactive or sedentary behavior, and unhealthy dietary patterns prove to be common and strongly associated with high risk. Genetic predisposition, particularly BRCA1 and BRCA2 mutations, plays a key role in increasing susceptibility among high-risk women. Additionally, reproductive factors such as early menarche, late menopause, nulliparity, and limited breastfeeding have been recognized as important contributors. In addition to urban pollution and dietary contaminants, environmental exposure also increases the risk; vitamin D deficiency could compound the disease further. Diagnosis gets late͏ and results get worse due to socioeconomic͏ and cultural barriers, low awareness, stigma, and low access to screening facilities. When compared with the regional population and even the global population, it can be seen that Pakistani women face some unique sociocultural challenges that make them more vulnerable. This review article demonstrates 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. Identifying key risk factors and leveraging artificial intelligence (AI)-driven technologies can improve prevention strategies and facilitate early detection.

Impact of lifestyle, familial history and environmental factors on breast cancer development among 80 women in Calabar Nigeria

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.

Genetic profiling of healthy family members of breast and ovarian cancer patients in Estonia

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.

Exploration of Risk Factors for Colorectal Cancer Based on Mendelian Randomization Analysis

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.

New Strategies to Uncover Genes Involved in the Development of Prostate Cancer in Families with Multiple Cases.