The CONFIRM Study has looked into how genetics, lifestyle, and environment affect the development of kidney cancer (also known as renal cancer).
Although the connection between genes and kidney cancer is not fully understood, people with certain rare genetic syndromes are known to be at increased risk of the disease. For example, Birt-Hogg Dube syndrome (BHD) is a rare genetic disorder with three main clinical findings: non-cancerous (benign) skin lesions; lung cysts or history of pneumothorax (collapsed lung); and various types of kidney tumours. Not everyone with BHD will show these symptoms.
The study, led by Dr Fiona Bruinsma and colleagues, aimed to provide more accurate estimates of how many people with BHD will actually experience symptoms. They collected data from 204 families with changes in the FLCN gene, which is linked to BHD, including some from the CONFIRM study. The study analysed information from individuals in these families to assess the likelihood of developing BHD-related symptoms over time.
The results show that by age 70 years, an estimated 19% of males with the FLCN gene change will develop a kidney tumour, 87% will experience lung issues, and 87% will develop characteristic skin lesions. For females with the FLCN gene change, we estimated that 21% will develop kidney cancer by age 70 years, 82% will experience lung issues, and 78% will develop skin lesions.
These findings offer valuable insights into the variation of symptoms among families with BHD, providing crucial information for family members and healthcare providers. They also open up opportunities for preventive healthcare. Further analyses using genetic data from the CONFIRM study are ongoing.