Over 5,000 genetic variants that enable certain cancers to thrive have been identified by scientists, along with a potential therapeutic target to treat or even prevent these cancers from developing. Researchers from the Wellcome Sanger Institute, and their collaborators at The Institute of Cancer Research, London, and the University of Cambridge assessed the health impact of all possible genetic changes in the ‘tumor protection’ gene, BAP1 . They found around a fifth of these possible changes were pathogenic, significantly increasing the risk of developing cancers of the eye, lung lining, brain, skin, and kidney.
The findings, published today (5 July) in Nature Genetics , are freely available so that they can be immediately used by doctors to help diagnose patients and choose the most effective therapies for them. Importantly, as all possible variants were assessed, the findings benefit individuals from diverse ethnic backgrounds, who have historically been underrepresented in genetics research. The team also uncovered a link between certain disruptive BAP1 variants and higher levels of IGF-1, a hormone and growth factor.
This discovery opens the door to developing new drugs that could inhibit these harmful effects, potentially slowing down or preventing the progression of certain cancers. The BAP1 protein acts as a powerful tumor suppressor in the body, protecting against cancers of the eye, lung lining, brain, skin, and kidney. Inherited variants that disrupt the prote.
