Inheriting a mutation in BRCA1 or BRCA2 puts you at higher risk of breast, prostate, ovarian and pancreatic cancer. Genetic testing and screening can be life-saving.

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 ...

Deafness, the most common sensorineural hearing loss at all stages of life, occurs either independently or as part of syndromes associated with other symptoms, such as Usher syndrome type 1. In a ...

Myeloid leukemias are among the most aggressive blood cancers and have low survival rates. Today, leukemia patients undergo genetic analysis to identify mutations and select the most appropriate ...

In a study published in the journal Nature, researchers from the Center for Genomic Regulation (CRG) and the Wellcome Sanger Institute have discovered that mutations affect protein stability following ...

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 ...

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 ...

Chronic exposure to cigarette smoke may reprogram different populations of lung stem cells, which maintain and repair lung tissue, in ways that make them vulnerable to specific cancer-causing gene ...

Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published today in the ...