RB1
Associated conditions:
- Melanoma
- Retinoblastoma
- Sarcoma
RB1 is a classic tumour-suppressor gene that puts the brakes on cell division. Genetic changes in this gene are associated with an autosomal dominant condition called retinoblastoma, an eye cancer of early childhood, and leave survivors at lifelong higher risk of melanoma, bone and soft-tissue sarcomas. Knowing your genetic status enables ongoing surveillance.
Conditions linked to RB1
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.
Retinoblastoma
Retinoblastoma is a cancer of the developing retina that occurs in early childhood. The inherited form is caused by a variant in the RB1 gene, so at-risk children need specialist eye examinations from birth to detect and treat tumours early and preserve vision.
Sarcoma
Sarcomas are cancers of connective tissues such as bone, muscle, fat and cartilage. Certain inherited syndromes raise their risk, so awareness supports prompt assessment of unexplained lumps or bone pain and, in some syndromes, imaging surveillance.
