Rare germline RET mutations

RET mutations, both germline and somatic, are commonly associated with the development of medullary thyroid carcinomas (MTC). Cosci and colleagues analysed the transforming activity of 6 rare RET mutations using in vitro assays and in silico assays, the alternative to the in vitro analysis which was previously required for determination of the transforming ability of new proto-oncogene mutations. S904F and M848T had a high transforming ability and a low aggressiveness, whilst the remaining 4 new RET mutations, T338I, V648I, M918V and A883T were low or non-transforming and their ability to induce tumoral transformation was possibly related to particular genetic conditions of the MTC, such as genetic background. Patients harbouring such rare mutations should be followed and treated by multidisciplinary teams. This is the first paper to demonstrate a statistically significant correlation between in silico assay scores (a less expensive and less time-consuming method) and the in vitro focus formation unit assay. Cosci et al. (2011) Endocrine-Related Cancer 18 603-612.

Read the full article at: DOI:10.1530/ERC-11-0117.