Population-based estimates of cumulative breast cancer risk for established pathogenic variants (PVs) vary by family history and potentially modifiable risk factors, according to a study published ...

Study focuses on Melanocortin 1 Receptor gene, which is one of fundamental proteins regulating skin and hair colour in ...

Lung cancer remains the leading cause of cancer-related deaths worldwide and is generally thought to arise from mutations acquired over a lifetime through environmental exposures.

Objectives Treatment of rheumatoid arthritis (RA) relies on immunomodulatory drugs that can compromise immunity, inducing secondary immunodeficiency (SID). However, features of SID, such as ...

About The Study: This study identified 5.05% of individuals carrying pathogenic or likely pathogenic variants, suggesting a higher-than-expected prevalence of key cancer susceptibility genes in a ...

Leveraging high variant allele frequencies (VAF) of DNA damage repair (DDR) mutations (muts) in liquid biopsy (LBx) as a surrogate for germline testing: Implications for precision medicine. Estimated ...

In genetics, one harmful variant can be enough to cause disease—but two can make it far more severe. One notable example is KJ, an infant diagnosed with a rare urea cycle disorder with a grim ...

Three cases suggest some clinicians lack understanding of relatively common autosomal recessive disorders and are ...