Endocrine Abstracts

My group identified RET 30 years ago as the gene for Multiple Endocrine Neoplasia type 2. My involvement was pure chance: as a medical oncologist ’borrowed’ from Urology for a day to help in the Thyroid Clinic, the first case notes I opened were of an MEN2 family. With the help of many colleagues, we established Consortia across disciplines (and countries) to assemble families for genetic linkage mapping, and in parallel helped to build the human gene map for chromos...

The ret proto-oncogene (RET) encodes a transmembrane tyrosine kinase receptor of growth factors belonging to the glial-derived neurotrophic family, essential for the normal development of the kidneys, ureters, peripheral and enteric nervous system. Pathogenic variants in the RET gene result in multiple different phenotypes, which can range from isolated pathologies to multi-system disease, as a result of both loss and gain of RET function. Missense gain of function pathogenic ...

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These days, many children with a RET gene change are diagnosed through genetic screening programmes when there is a parent with the gene change. I wasn’t one of those children and was not diagnosed with MEN2 until I was 31 years old. My son was diagnosed through screening at 2 years old. I will share our family’s story of how we adjusted to the ’new normal’, and how we live with this condition day-to-day more than 20 years down the line. I will also share s...

The RET receptor tyrosine kinase is an established oncogenic driver in multiple cancers. Activating RET point mutations give rise to the cancer syndrome Multiple Endocrine Neoplasia type 2 (MEN2), characterized by medullary thyroid carcinoma and pheochromocytoma. Correlations of specific RET mutations with MEN2 disease phenotypes and severity have been well documented, however the molecular mechanisms that distinguish the functions, locations, and protein interactions of speci...

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Genetic testing for RET gene was available in the United Kingdom within few years of its discovery, undoubtedly another bonus of universal, nationwide health care system. It was the beginning of Precision Medicine era, which became a watchword for preventative and personalized treatments based on phenotypic, biomarker and genetic characteristics. Surgical Precision on the other hand is an idiom for doing something very well and with meticulous attention to detail. In my presen...