POT1
Associated conditions:
- Melanoma
- Leukaemia
- Nervous system/brain cancer
POT1 makes part of the protective cap on the ends of chromosomes (telomeres), keeping them stable during cell division. Genetic changes in this gene are associated with an autosomal dominant condition called POT1 tumour predisposition syndrome, raising the risk of melanoma, certain leukaemias, gliomas and angiosarcoma, by letting telomeres grow abnormally long. Knowing your genetic status enables regular skin and clinical checks.
Conditions linked to POT1
Melanoma
Melanoma is a serious skin cancer that begins in pigment-producing cells and can also arise in the eye. Inherited variants raise lifetime risk, so carriers benefit from sun protection, regular skin (and sometimes eye) checks and prompt review of changing moles.
Leukaemia
Leukaemia is a cancer of the blood-forming cells in the bone marrow. Certain inherited predispositions raise its risk, so carriers may be offered periodic blood counts and prompt review of unexplained fatigue, bruising or infection.
Nervous system/brain cancer
Cancers of the nervous system and brain arise in the brain, spinal cord or their supporting tissues. Some inherited syndromes raise the risk of these tumours, so awareness supports prompt assessment of new neurological symptoms and, where indicated, imaging surveillance.
