Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women

Our study describes breast cancer risk loci using a cross-ancestry GWAS approach. We first identify variants that are associated with breast cancer at P < 0.05 from African ancestry GWAS meta-analysis (9241 cases and 10193 controls), then meta-analyze with European ancestry GWAS data (122977 cases and 105974 controls) from the Breast Cancer Association Consortium. The approach identifies four loci for overall breast cancer risk [1p13.3, 5q31.1, 15q24 (two independent signals), and 15q26.3] and two loci for estrogen receptor-negative disease (1q41 and 7q11.23) at genome-wide significance. Four of the index single nucleotide polymorphisms (SNPs) lie within introns of genes (KCNK2, C5orf56, SCAMP2, and SIN3A) and the other index SNPs are located close to GSTM4, AMPD2, CASTOR2, and RP11-168G16.2. Here we present risk loci with consistent direction of associations in African and European descendants. The study suggests that replication across multiple ancestry populations can help improve the understanding of breast cancer genetics and identify causal variants.

An overview on breast cancer genetics and recent innovations: Literature survey

Breast cancer is one of the leading cancers nowadays. The genetical mechanism behind breast cancer development is an intricate one. In this review, the genetical background of breast cancer, particularly BRCA 1 and BRCA 2 had been included. Moreover, to summarize the genetics of breast cancer, the recent and ongoing preclinical and clinical studies on the treatment of BRCA-associated breast cancer had also been included. A prime knowledge is that the BRCA gene is the basis of breast cancer risk. How it mediates cell proliferation and associated mechanisms are reviewed here. BRCA 1 gene can influence all phases of the cell cycle and regulate cell cycle progression. BRCA 1 gene can also respond to DNA damages and induce responsive mechanisms. The action of the BRCA gene on associated protein has a wide consideration in breast cancer development. Heterogeneity in breast cancer makes them a fascinating and challenging stream to diagnose and treat. Several clinical therapies are available for breast cancer treatments. Chemotherapy, endocrine therapy, radiation therapy and immunotherapy are the milestones in the cancer treatments. Ral binding protein 1 is a promising target for breast cancer treatment and the platinum-based chemotherapies are the other remarkable fields. In immunotherapy, the usage of anti-programmed death (PD)-1 antibody is a new class of cancer immunotherapy that hinders immune effecter inhibition and potentially expanding preexisting anticancer immune responses. Breast cancer genetics and treatment strategies are crucial in escalating survival rates.

Nursing Genetic Research: New Insights Linking Breast Cancer Genetics and Bone Density

Nursing research is expected to provide options for the primary prevention of disease and health promotion, regardless of pathology or disease. Nurses have the skills to develop and lead research that addresses the relationship between genetic factors and health. Increasing genetic knowledge and research capacity through interdisciplinary cooperation as well as the development of research resources, will accelerate the rate at which nurses contribute to the knowledge about genetics and health. There are currently different fields in which knowledge can be expanded by research developed from the nursing field. Here, we present an emerging field of research in which it is hypothesized that genetics may affect bone metabolism. Better insight of genetic factors that are contributing to metabolic bone diseases would allow for focused nursing care and preventive interventions.

Genetics of breast cancer: management strategies and risk-reducing surgery

The last two decades have witnessed major advances in genetic sequencing which have led to more accurate identification of women at risk of developing breast cancer and calculating the associated cancer risk. This review discusses the current genetic mutations conferring risk of developing breast cancer and the management pathway for these women with identifiable mutations as well as those with a strong family history for breast cancer. Management of these individuals is complex and should involve a multidisciplinary team with interest and expertise in breast cancer genetics. There are several treatment options ranging from surveillance to risk-reducing surgery. Risk reduction surgery has been popularised by celebrities who are carriers of breast cancer genes, and raised public awareness of breast cancer genetics and associated risk.

In Their Own Words: A Qualitative Study of Kenyan Breast Cancer Survivors’ Knowledge, Experiences, and Attitudes Regarding Breast Cancer Genetics

Introduction Breast cancer ranks among the most common adult cancers in Kenya. Individuals with a family history of the disease are at increased risk. Mutations most commonly associated with breast cancer affect BRCA1 and BRCA2; mutations in several other genes may also confer breast cancer risk. Genetic testing and counseling can help patients understand their risk and assist clinicians in choosing therapies. We aimed to uncover what patients know, experience, and think with regard to breast cancer genetics in Kenya. Methods Participants included breast cancer survivors age > 18 years. Participants completed a demographic questionnaire before participating in focus group discussions to uncover knowledge of, experiences with, and attitudes toward the genetics of breast cancer. Data were analyzed by inductive thematic analysis. Results Four focus groups were conducted. Participants had rudimentary knowledge about genetics and cancer development, and although they understood breast cancer could be familial, many suspected environmental factors causing spontaneous disease. They reported limited experience with counseling about genetic risk, perceiving that their physicians were too busy to provide comprehensive information. Many indicated they promoted cancer screening among family to promote early diagnosis. Participants expressed a need for more comprehensive counseling and access to genetic testing, recognizing the added clarity it would bring to their families’ risk of cancer. Conclusion Improved communication from health care teams could clarify the risk of cancer for affected families. The introduction of affordable genetic testing and counseling for breast cancer in Kenya is welcomed by survivors.