They found epigenetic marks, but no mutations (alterations in the DNA sequence itself), on genes linked with pancreatic cancer, including two groups called PI3K and R/R/C GTPase. They had earlier ...

and its role in this cancer type is not yet well understood. This case adds to limited evidence suggesting that SMARCA4 loss in SCLC may correlate with a particularly aggressive disease course. In ...

Inherited mutations in the gene BRCA2 significantly increase the risk ... resulting in uncontrolled cell division and, in some circumstances, cancer development. BRCA2 predisposes carriers to cancer ...

Maureen took part in a clinical trial that gave immunotherapy alone to patients with several types of cancer sharing a particular mutation, meaning they did not have to undergo surgery, radiation, or ...

In severe cases, the disease progresses to cirrhosis, resulting in irreversible liver damage or liver cancer. Metabolic ... scientists determined that the mutation disrupted a critical biological ...

When matched with clinical data, the scientists observed that these mutations were associated with patients living for a shorter period of time, regardless of their age or the stage at which the ...

Some clinical trials for treatments that nip Alzheimer’s disease in the bud rely on recruiting carriers of autosomal-dominant mutations who will develop ... presence of other AD pathogenic variants at ...

But her case is caused by a rare genetic mutation, so medications that work for 90% of people with cystic fibrosis won’t help her. The same dynamic plays out in other genetic conditions.