With the rapid evolution of next-generation DNA sequencing technologies, the cost of
sequencing a human genome has plummeted, and genomics has started to pervade health …

DNA damage response is essential to human physiology. A broad spectrum of pathologies
are displayed by individuals carrying monoallelic or biallelic loss-of-function mutations in …

Breast Cancer (BRCA) is the most common threat in women worldwide. Increasing death
rate of diagnosed cases is the main leading cause of designing specific genosensors for …

Background Pathogenic variants in BRCA1 and BRCA2 (BRCA1/2) lead to increased risk of
breast, ovarian, and other cancers, but most variant-positive individuals in the general …

More than 4,000 genes have been associated with recognizable Mendelian/monogenic
diseases. When faced with a new diagnosis of a rare genetic disorder, health care providers …

The tumor-suppressor breast cancer 1 (BRCA1) in complex with BRCA1-associated really
interesting new gene (RING) domain 1 (BARD1) is a RING-type ubiquitin E3 ligase that …

Phenotypic traits, such as red hair and freckling, increase melanoma risk by 2-to 3-fold. In
addition, approximately 10% of melanomas are caused by inherited germline mutations that …

Predictive genetic testing can provide information about whether or not someone will
develop or is likely to develop a specific condition at a later stage in life. Economic …

Background Multigene panels can be a cost-and time-effective alternative to sequentially
testing multiple genes, especially with a mixed family cancer phenotype. However, moving …

Breast cancer is a complex and multifactorial disease with a significant global impact.
Hormonal imbalance has emerged as a crucial factor in breast cancer development …