An international team of scientists has identified an association between heritable, rare mutations in the RINT1 gene and increased risk of early-onset breast cancer, according to research reported today (October 24) at the American Society of Human Genetics (ASHG) 2013 Annual Meeting in Boston. The rare mutations in RINT1, a tumor suppressor gene, were detected in 3 of 49 families participating in a study that sequenced the whole exome, the protein-coding DNA, of families with multiple individuals affected by breast cancer. “Although mutations in RINT1 are rare, it is most likely that the remaining unknown breast cancer susceptibility genes will account for similar small proportions of the disease,” said Daniel J. Park, Ph.D., who presented the study at ASHG 2013 and is Senior Research Fellow in genetic epidemiology at the University of Melbourne, Australia. Only approximately 35 percent of the familial risk for breast cancer has been explained so far, according to Dr. Park and his collaborators, who added that the discovery of the RINT1 variants’ association with the disease could help members of families with multiple cases of breast cancer to identify their individual risk for developing the cancer. Dr. Park’s collaborators in the search for unidentified breast cancer susceptibility genes are scientists at the Institute Curie in Paris, the International Agency for Research on Cancer in Lyon, France, the Huntsman Cancer Institute in Salt Lake City, Utah, as well as the University of Melbourne.
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