Term: BLM gene

Pronunciation: (… jeen)

Description:

A gene that makes a protein involved in maintaining the structure of DNA when DNA is copied in a cell and in repairing damaged DNA. Mutations (changes) in the BLM gene may cause cells to lose their ability to repair damaged DNA, which may lead to abnormal cell growth. BLM gene mutations have been found in an inherited condition called Bloom syndrome. People with this condition have an increased risk of developing cancer at an early age, especially squamous cell skin cancer, leukemia, lymphoma, and gastrointestinal tract cancer.