Discoveries
Genes for rare disease linked to well-known cancer genes
A decade of research into one of the world's least-known diseases has established a connection to some of the best-known cancer genes.
Contributing to the study were (clockwise from top right) Alan D'Andrea, MD, Lisa Moreau, and Niall Howlett.
In a study published this past summer, Alan D'Andrea, MD, and his colleagues in the Pediatric Oncology Department at Dana-Farber reported that a group of genes involved in Fanconi anemia, a rare condition, participate in a molecular "pathway" with the genes BRCA1 and BRCA2. Though known as breast cancer genes, the BRCA genes raise a person's risk of developing several types of cancers when they occur in an abnormal, or mutated, form.
The pathway is part of the process by which cells repair damaged DNA — a crucial activity if cells are to remain healthy. If such repairs are not made, once-normal cells may become cancerous.
Because the Fanconi anemia genes and BRCA1 and 2 cooperate in mending DNA, a mutation in any of the six Fanconi genes could increase an individual's risk of cancer, even if BRCA1 and 2 are sound.
The discovery of the pathway means that doctors may be able to screen patients for additional gene abnormalities that elevate their chance of developing cancer. "This work is a prime example of how research into rare conditions can lead to better diagnosis and treatment for people with more common diseases," D'Andrea states.
