A rare genetic disease called BAP1 tumor predisposition syndrome may raise the chance of getting skin, eye, kidney, chest, and abdominal cancers, according to a new study. This rare genetic disorder affects a gene that usually controls cell proliferation and tumor formation; it is thought to occur in less than 100 families in the United States. In addition to preventing cancer cells from growing and spreading, the gene is essential for repairing DNA damage to cells.
Research into BAP1 gene mutations revealed that aberrant nail marks, such as a thin white line along the length of the nail, are present in 88% of individuals with the condition. This genetic condition is associated with an increased risk of skin, kidney, lung, and an extremely rare form of eye cancer. Onychopapilloma is a benign tumor characterized by a slightly thickened region of skin beneath the nail and a white band running down the nail. This is the most notable finding.
The eye’s central layer produces dark pigments called melanin; around 36% of individuals with this genetic condition develop uveal melanoma, a kind of cancer that starts in melanin. Though it does occur, it barely makes up about 5% of melanoma occurrences in the US. Mesothelioma is a deadly cancer that affects the lining of the lungs and many other internal organs; it affects about 25% of patients with the disease.
The majority of malignancies linked to BAP1 are more aggressive and often manifest at an earlier stage of life. The average age of a patient with the manifestation of mesothelioma is about 55 years old for those who are genetically predisposed to the disease. Comparatively, the onset is about 72 years for those who do not.
Notwithstanding this, several studies have shown that individuals with a BAP1 mutation outlive those who do not by seven times.
