"Our group primarily focuses on genetic markers of hereditary colon cancer," said Dr. Laura Valle, lead author of the study. "In recent years, we have sequenced the exome -- all genes -- from high-risk families with several members affected by colon cancer but who do not have the genetic mutations currently associated with this disease. The aim is to identify the altered genes that cause the aggregation of cancer in these families. If we do so, mutation carriers can enter into personalized follow-up programs to detect early onset of cancer, and even prevent it."
As for the work published by the journal Gastroenterology, the researchers singled out the BRF1 gene as a family colon cancer gene. "This gene has been mutated in tumors but has never been associated with cancer risk," says Dr. Valle. Sequencing of this gene in more than 500 samples from families with familial cancer aggregation but without alterations in...
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