In 2018, the agency approved Symdeko, (a combination of tezacaftor/ivacaftor), to treat patients ages 12 and older who had the same specific
genetic mutations.
"In cases of
genetic mutations associated with certain types of tumours, when a hospital finds this out they should send these patients for a mutation analysis and to have them medically screened to check for any [cancer] malignancies."
Through a process called homologous recombination, these corrective sequences replace disease-causing
genetic mutations in the genome.
The new research has uncovered the role of another
genetic mutation in prostate cancer, which influences the aggressive nature of the disease.
Their study in the journal (https://www.nature.com/articles/gim2017254) Genetics in Medicine reported that of the handful of
genetic mutations linked to Lynch syndrome, the mutations to genes called MSH6 and PMS2 were associated with a heightened risk - up to two or three times that of the general population.
"The idea behind the centre is knowing whether you're carrying a specific
genetic mutation of a specific genetic disease you're not aware of.
A
genetic mutation, which is common only in Cypriot families, is responsible for most cases of hereditary breast and ovarian cancers, scientists at the Cyprus Institute of Neurology and Genetics (Cing) announced on Tuesday.
Kauff, MD, "Our study presents the strongest evidence to date that women with this
genetic mutation should at least discuss with their doctors the option of having a hysterectomy along with removal of their ovaries and fallopian tubes."
Approximately 5% of patients with non-small cell lung cancers (NSCLCs) may respond well to a class of targeted therapies called MET inhibitors due to the presence of a specific
genetic mutation, according to a study published in The Oncologist on March 24, 2016.
The researchers hope to someday develop targeted therapies that could help treat people with
genetic mutations that predispose them to obesity.
By mailing in a sample of your dog's DNA collected with a cheek swab, you can identify known disease-causing
genetic mutations. Here's why that is a very big deal.
