Paper Title
The Role of Immunohistochemistry in Screening for Germline Mutations in Tumour Suppressor Genes Associated with Familial and Hereditary Cancers: Challenges and Future Perspectives
Abstract
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.