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 ...

Germ cell tumors (GCTs) are a heterogeneous group of neoplasms that predominantly affect adolescents and young adults. Notably, geographical disparities in GCT incidence exist, with higher rates ...

Quality of care (QoC) measures among patients with high-risk non–muscle-invasive bladder cancer (HR-NMIBC) who are unresponsive to bacillus Calmette-Guérin (BCG) treatment: A SEER-Medicare analysis.

Genetic variation is the foundation of human diversity, enabling differences in traits such as height, eye color, or blood type. Some sequence variants also cause inherited diseases, including sickle ...

Some clinical trials for treatments that nip Alzheimer’s disease in the bud rely on recruiting carriers of autosomal-dominant mutations who will develop Alzheimer’s disease in a predictable fashion.

A woman in her late 20s presented with a 5-year history of progressive fatigue and generalised weakness. Examination revealed signs of premature ageing, anaemia, neuropathy and hepatosplenomegaly.

What Is the MTHFR Gene Mutation? The MTHFR gene mutation is a variation in the MTHFR gene. This gene normally tells your body how to make the MTHFR protein. You need this protein to process folate, ...

A study of men with a family history of prostate cancer has discovered an inherited form of prostate cancer. The inherited mutated gene WNT9B, which functions normally in embryonic prostate ...

"Reassuring" data show more breast cancers with surveillance, but no difference in surviva ...