The Role Of Immunohistochemistry In Screening For Germline Mutations In Tumour Suppressor Genes Associated With Familial And Hereditary Cancers: Challenges And Future Perspectives
There are currently over 100 reported tumour suppressor genes (TSGs), in which loss of function mutations are key to oncogenesis. Identifying individuals harbouring mutations in TSGs can have a significant impact on the diagnosis and management of patients and their families. Currently the main investigation for diagnosing germline TSG mutations is genetic testing, which remains an expensive, time-consuming and specialist process. Developing alternatives to genetic testing as a primary screening tool for germline TSG mutations is an active field of research. A promising tool is immunohistochemistry (IHC). We have conducted a review of the literature and evidence behind the use of immunohistochemistry (IHC) as an initial and complementary tool in the identification of patients with germline TSG mutations. In particular, this review focuses on the evidence for IHC in the context of TSGs associated with hereditary phaeochromocytoma and paragangliomas.
Key words - Immunohistochemistry, tumour suppressor genes, genetics, hereditary, inherited, familial, cancer, tumour, phaecromocytomas, paragangliomas.