Genetics and Health

Two New Genes for Fanconi Anemia

by Hsien Hsien Lei, PhD on September 18th, 2005

Two new genes associated with Fanconi anemia have been discovered - BRIP1 and FANCM. Involved with DNA repair and replication, BRIP1 and FANCM may also play a role in breast and ovarian cancers. There are now a total of 11 genes known to be associated with Fanconi anemia.

What all Fanconi patients share is a sensitivity to a kind of DNA damage called crosslinking. It happens when the four chemicals that dictate DNA’s code — called base pairs — improperly stick together. When cells try to unzip and copy their twin DNA strands so they can grow, the fused bases don’t separate properly, which can lead to broken DNA or mutant copies.

Fanconi anemia affects only about 500 Americans a year. Patients often experience birth defects and bone marrow problems and are at high risk of developing a form of leukemia and tumors in body regions where cells grow rapidly, like the throat. Many die by age 20.

Newsday.com, September 16, 2005

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POSTED IN: Genetics of Disease