UBE2QL1-associated familial renal cell carcinoma
OMIM number: N/A
Comments closing date: 09/01/2026
When the UBE2QL1 gene is working, it suppresses development of kidney tumours. If a
person is born with a mutation which disrupts this gene, they are much more likely to develop
cancerous and non-cancerous kidney tumours, particularly renal cell carcinomas. Mutations in this
gene are extremely rare, but this condition is thought to be associated with a significantly
increased lifetime risk of developing renal cell carcinoma compared to the general population.
Age of onset of these kidney cancers have been reported in the fourth and fifth decade of life. While there is no cure for this condition, regular screening may help identify kidney cancers at an
earlier or more treatable stage. Kidney cancers have a significant risk of morbidity and mortality. If
a person is born with a mutation in this gene, there could be a 1 in 2 (50%) chance of passing it on at each conception.
