Hereditary Breast and Ovarian Cancer (HBOC) typically arises from mutations inherited in the germline. BRCA1 and BRCA2 mutaions are predominant contributors to HBOC, accounting for the majority of cases. These mutations are associated with 10% of ovarian cancer cases and 3-5% of breast cancer cases [4]. BRCA1 …

Arrhythmogenic Cardiomyopathy (ACM), also known as arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare hereditary disease of the heart, where the connective, and fatty tissue is deposited in the muscle tissue of the ventricular myocardium primarily of the right but also left …

Alzheimer's disease (AD) is the common neurodegenerative disorder and the most frequent cause of dementia. The disease accounts around 80% of all dementia diagnoses. The main reason of developing AD is amyloid cascade which starts from missense mutations in APP (amyloid precursor protein), Rho-associated …

Clonal haematopoiesis of intermediate potential (CHIP) driven by somatic mutations in DNMT3A and TET2 has been recently recognized as a new risk factor for cardiovascular diseases (CVD). The haematopoietic clones with mutations in these genes are frequently found in myeloid malignancies and according …

5% to 10% of all cancers are linked to gene mutations inherited from parents. The most common gene related to hereditary cancer is the p53 gene. It is a crucial tumor suppressor. However, the mutated gene is commonly inherited from one generation to another one. The functions of p53 resume to the activation …

Aims Genetic hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomere protein-encoding genes (i.e. genotype-positive HCM). In an increasing number of patients, HCM occurs in the absence of a mutation (i.e. genotype-negative HCM). Mitochondrial dysfunction is thought to be a key driver of …

Cutaneous melanoma is a type of skin cancer that develops from benign melanocytes to one of the most aggressive types of skin tumors in human. In cutaneous melanoma progression, the metastasis phase is the most challenging phase to treat. To enable earlier treatment options, a better understanding of …

This historical review uncovers the institutionalisation and diffusion of the SWOT analysis by assessing academic literature, seminar materials, proprietary research reports and interviews with experts from the virus theory perspective. We suggest that reviews of the SWOT analysis using the management …

The fungal species Trichoderma harzianum is widely used as a biological agent in crop protection. To verify the continued presence of this fungus on plant roots manually inoculated with T. harzianum strain T22, a Q-PCR was designed using specific probes for this particular strain. To develop these molecular …