In simple terms: a mutation is a stable change in genetic sequence that can be copied when cells or viruses replicate. Most mutations have no detectable effect, some contribute to disease, and a small ...

Screening for BCR-ABL1 kinase domain (KD) mutations is routinely implemented in cases of treatment failure for chronic myeloid leukaemia and Philadelphia-positive acute lymphoblastic leukaemia.

Invasive cervical cancers (ICC), caused by HPV infections, have a heterogeneous molecular landscape. We investigate the detection, timing, and HPV type specificity of somatic mutations in 3929 ...

From the time we are conceived and through old age, genetic mutations accumulate in all our tissues, eluding the body’s typically efficient DNA repair machinery and potentially affecting our health ...

Genetic disorders—like cystic fibrosis and Huntington's disease—are considered incurable, with gene mutations occurring in essentially every cell of the body. Gene mutations occur when one nucleotide ...

A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...

A study demonstrates that the 'previous state' of blood stem cells plays a decisive role in the subtype of leukemia that develops. The new technique, called STRACK, allows monitoring of the evolution ...

Researchers at the Institute for Bioengineering of Catalonia (IBEC) have produced a mutational map showing how mutations in amylin—a hormone that plays a key role in glucose regulation—affect its ...

A lung cancer diagnosis can feel frightening. And when a family member is diagnosed, you might wonder about your own risk, prompting you to ask if lung cancer is hereditary. Smoking tobacco accounts ...