An international team of researchers led by the University of Melbourne has used new technology to fast track the discovery of a breast cancer risk gene which could assist in the discovery of other cancer genes. This is the first breast cancer risk gene to be found using massively parallel sequencing, which enables sequencing of large amounts of human DNA at high speed. The research was published in the American Journal of Human Genetics.
mutations archive.
Cystic fibrosis (CF) is the commonest lethal inherited disease in the UK, affecting around 9,500 people nationally and over 90,000 worldwide. But there may be hope – a UK gene therapy trial for cystic fibrosis is expected to begin in March, in 130 adults and children. This is the largest …
There has been a lot of talk recently of the promise of personalised medicine, but some recent research led by Cancer Research UK may mean that this isn’t as simple as we thought – a genetic profile from one part of a tumour may not be the same as a sample from nearby in the same tumour.
Tasmanian devils could be extinct in 20 years because of a highly contagious facial cancer called devil facial tumor disease (DFTD). In two papers, researchers have sequenced the genome of the cancer and mapped the chromosome and gene rearrangements, and this could give the animals hope at last.
On the tenth day of Christmas my true love gave to me… ten lords-a-leaping. Transposons, also known as transposable elements or jumping genes, are small stretches of DNA that can move around the genome.
Hints and tips from Nucleic Acids Research: Ultrasensitive detection of rare mutations using next-generation targeted resequencing.
Ovarian cancer is the second most common gynaecological cancer, and is often diagnosed late, as its symptoms overlap with many other conditions. It causes around 70% of the deaths associated with ovarian cancer in the USA. The Cancer Genome Atlas (TGCA) Research Network has published its integrated genomic analysis of ovarian carcinoma – this is the second cancer completed by this group.
The iPad has become a good-looking ‘must have’ for business and leisure – and now it may be the next key tool for the genome engineer – the Center for Biomedical Informatics (CBMi) at the Children’s Hospital of Philadelphia has created the app Genome Wowser.
Even DNA has to know where to stop. Messenger RNA uses translation termination codons, also known as nonsense codons, to signal the end of coding for a protein, and mutations can lead to incomplete proteins. These may be behind genetic disease. Researchers have found a way to turn the nonsense into sense, suppressing early termination.
Chronic lymphocytic leukaemia (CLL) is one of the most common forms of leukaemia, and some families do show a genetic predisposition to different forms of leukaemia. A team of Spanish researchers have identified recurrent mutations in chronic lymphocytic leukaemia.
