Rare Gene Mutation PALB2 Increases Breast Cancer Risk

Researchers have discovered that a rare gene mutation called PALB2 greatly increases the risk of breast cancer. Carriers hold a one in three chance of developing breast cancer by age 70.

As breast cancer remains the most common cancer in women worldwide, according to the World Health Organization, it's estimated that 508,000 women died from it in 2011, alone .

Researchers believe that the PALB2 mutation is almost as influential a factor as the more widely known breast cancer risk genes, BRCA1 and BRCA2. Women with one or both of these mutations often opt to have their breasts removed in the hopes of preventing future health issues, according to Reuters.

"Although PALB2 was discovered in 2006 and its association with breast cancer was reported in 2007, this is the first study providing clear risk estimates for PALB2 mutation carriers based on their family history," said lead investigator Marc Tischkowitz, MD, from the Department of Medical Genetics at the University of Cambridge, United Kingdom, via Medscape. 

For the study, researchers analyzed data from 154 families without the BRCA1 and BRCA2 mutations, including 362 family members with the PALB2 gene mutations. 

They further examined certain breast cancer risk increases when women carried the PALB2 mutation. Findings showed that many of the PALB2 carriers were more likely to have a strong family history of breast cancer, according to Medscape Medical News.

"We're learning all the time about the different factors that may influence a woman's chances of developing breast cancer," said Peter Johnson, chief clinician at the charity Cancer Research UK, which part-funded the study. "This particular mutation doesn't make people certain to develop cancer, but it's another piece of information to help women make proper informed choices about how they may help to minimize their own risk."

More information regarding the findings can be seen via the New England Journal of Medicine.