Luxturna is the first of a crop of treatments that target diseases caused
by mutations in specific genes, and thus is referred to by many as the first gene therapy in the U.S.
The Yale - led study performed whole exome sequencing ¬ — a technique for sequencing all the expressed genes in a genome ¬ — on TNBC tumors to
identify mutations in specific genes or pathways that may indicate response or resistance to the standard of care, which is anthracycline / taxane (ACT) chemotherapy.
Members of some families are at higher risk than others to develop tumors that originate from these cells due to
mutations in specific genes.
Researchers have discovered that
mutations in a specific gene are responsible for a hereditary form of melanoma.
By also examining this genetic region in two other families with similar disorders, the researchers were able to pinpoint
a mutation in a specific gene, NT5E, which is involved in breaking down calcification in the arteries.
«If a patient has
a mutation in a specific gene, it would be a way of giving them a normal copy to try to correct that gene.
About 5 - 10 % of all cancers are inherited, meaning that
mutations in specific genes are passed from one blood relative to another.
Familial cancer, also known as hereditary cancer is a condition caused by
mutations in specific genes that is passed from parent to child.
Mutations in specific genes are passed from one blood relative to another, creating a greater chance of developing cancer in their lifetime and at an earlier age.
Many idiopathic epileptics have inherited epilepsy: epilepsy caused by
a mutation in a specific gene that they inherited from their parents.