Sean Tavtigian, Ph.D., an HCI investigator, professor in the Department of Oncological Sciences at the University of Utah (U of U), and one of three joint-principal investigators on the study, said BRCA1 and BRCA2 aren't the whole story when it comes to inherited breast cancer risk. We've known for a long time that more genes had to be responsible and several have since been discovered, by us and by others.
Tavtigian said originally, the gene we are currently studying, called RINT1, was not considered a human cancer susceptibility gene. But then we discovered there was a two- to three-fold increase in risk for breast cancer in families that carry a mutation in that gene.
Surprisingly, RINT1 was also found to increase risk for a broad spectrum of gastrointestinal and gynecological cancers in these families.
In another study led by Tavtigian, mutations in three other genes-MRE11A, RAD50, and NBN-were also confirmed to increase breast cancer risk, as reported in the journal Breast Cancer Research June 3.
The findings have been published in the journal Cancer Discovery.