Endocrine Abstracts (2015) 38 N1.2 | DOI: 10.1530/endoabs.38.N1.2

Genetics and multiple endocrine neoplasia

Louise Izatt

Guy’s and St Thomas’ NHS Foundation Trust, London, UK.

Genetic testing plays an increasing role in diagnosing and managing patients with Multiple Endocrine Neoplasia (MEN). Advances in genetic testing technology, combined with a fall in the cost of analysis, provides the opportunity to test more patients as early as possible, to try to confirm or refute whether there is a genetic variant contributing to their endocrine neoplasia. If a MEN syndrome is confirmed genetically, then ongoing management and surveillance can be tailored, following consensus guidelines.

The purpose of this session is to explain some of the key concepts of genetics and MEN. This will include patterns of inheritance, the risks, benefits, and limitations of different types of genetic tests, understanding genetic risk, and the implications for individuals and families when a diagnosis of a genetic condition is made.

In the future, we may expect that knowledge of genetic variants in both the patient’s constitutional DNA and in their endocrine tumours may be of importance, as it is likely that in some MEN syndromes the disease pattern will be more complex than monogenic disease. Understanding the functional consequences of how these genetic variants interact will help to customise optimal treatment.

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