The 128 people in the study, from the UK, US and Australia, had a 50% chance of inheriting one of three mutations that are certain to cause early Alzheimer's, which often develops in people's 30s and 40s - much earlier than the more common form of Alzheimer's which generally affects people in their 60s.
In addition to BRCA1 and BRCA2 mutations, there are certain hereditary cancer syndromes, such as Li-Fraumeni, Cowden, Peutz-Jeghers and diffuse gastric cancer syndromes, associated with a high risk of BrCa [ 6- 9].
However the p53 gene has mutational hotspots, germline mutations are possible, and certain subtypes, such as basal-like tumors, have a greatly elevated p53 mutation rate [ 14], presenting a risk for misclassifications.
If we can find which of these mutations are common in certain types of cancer, we might be able to use these in a vaccine against that cancer type".
If these mutations are clustered in certain areas of the genome, this may be evidence of positive selection driving these alleles to high frequencies.
Recent studies have demonstrated that specific mutations are enriched in certain tumors; for example, KIAA1549-BRAF fusions are found in PAs, and BRAF p.V600E mutations are frequently detected in PXAs (~70%) [ 14- 19].
Additional evaluation of mutations can also be performed by interrogating NGS data from TCGA or ICGC or other projects to see whether specific mutations are present in certain cancer types and what their frequency is.
Furthermore, both agents induce cytotoxicity independently of p53 (Hail et al, 2006; Ashkenazi, 2008), which is important when p53 mutations are common in certain cancer types and many conventional treatments such as irradiation and DNA-damaging drugs rely on p53 to induce cell death.
For example, some students appear to consider pressures to be the causes of mutations: "Pressures would be certain forces of nature that results in a mutation and evolution in a species" (Fig. 1d).
