Genetic predisposition syndromes for cancer

BAP1-associated cancer predisposition syndrome is a rare genetic disorder caused by mutations in the BAP1 gene, which plays a key role in DNA repair. This condition increases the risk of developing various types of tumors, including eye tumors, kidney tumors, and certain skin cancers. Individuals with this syndrome may require ongoing medical surveillance for early cancer detection.

Blue rubber bleb nevus syndrome is a rare condition characterized by small, painless, blue or gray rubbery skin lesions, often associated with other health issues.

OX40 deficiency-associated combined immunodeficiency is a rare immune disorder caused by a deficiency in the OX40 protein, which plays a key role in activating T-cells. This deficiency weakens the body's ability to fight infections, increasing the risk of recurrent infections.