Through the efforts of researchers at Huntsman Cancer Institute (HCI) at the University of Utah, who lead an international consortium working to find more gene mutations that cause inherited breast cancer susceptibilities, four new genes have been added to the growing list of those known to cause increased breast cancer risk when mutated.
“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,” according to Sean Tavtigian, PhD, one of three joint-principal investigators on the study. “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 threefold increase in risk for breast cancer in families that carry a mutation in that gene.” The RINT1 findings were published recently in the journal Cancer Discovery.
Surprisingly, RINT1 was also found to increase risk for a broad spectrum of gastrointestinal and gynecological cancers in these families. “Many genes responsible for a strong increase in cancer risk at one or two sites in the body are also connected with lesser increases in risk at other sites,” says David Goldgar, another of the study’s joint-principal investigators. “However, with RINT1 mutations, the increased risk for other cancers is about equal to that for breast cancer.”
In another study led by Tavtigian, mutations in three other genes—MRE11A, RAD50, and NBN—were also confirmed to increase breast cancer risk. “The proteins encoded by these three genes form a tight complex that is involved in DNA repair, and the three genes had been considered likely candidates,” says Tavtigian. Read the abstract of the Cancer Discovery article.
Read more
