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Other Gene Faults
The first breast cancer gene faults to be found were BRCA1 and BRCA2. Women with these genes have up to an 80% chance of getting breast cancer in their lifetime. We now know of other rare genes that significantly increase a woman's risk of breast cancer. Genetic tests for these other genes based on the family history.
Researchers have found other genes that can slightly increase a woman's risk of developing breast cancer. The breast cancer in some families may be caused by a combination of these low risk genes, however no tests are available for these genes yet CASP8, FGFR2, TNRCP, MAP3K1 and LSP1.
PALB2 - another BRCA2?
Mutations (faults) in a gene called PALB2 increase the chances of developing breast cancer and can be inherited (passed from one generation to the next) just like mutations in BRCA1 and BRCA2. Interestingly, the proteins made by the genes PALB2, BRCA2 and BRCA1 all work together to maintain healthy cells.
Mutations in PALB2 are not common (about 2% of families with several cases of breast cancer might carry such a mutation) but it could be very important to identify women with a mutation in this gene because their chances of developing breast cancer could be very high, perhaps as high as the risks associated with having a mutation in the BRCA2 gene.
My laboratory is conducting a very large study involving more than 7,000 research participants (about 400 from kConFab) to try to find the best way to identify the women who carry a mutation in this gene and to find out more about their cancer risks. Our study has already identified several families who have a mutation in this gene and the data from these Australian families are consistent with carriers having a substantial breast cancer risk. We have also formed an international group of breast cancer researchers from Australia, America, Canada, The United Kingdom and Finland who are interested in finding out more about PALB2 and clarifying its role in breast and other cancers.
In the future, our work will help determine how a woman who carries a mutation in PALB2 might lower her risk of breast cancer, and should she become affected, how best to treat and manage her disease.
A/Prof Melissa Southey, Department of Pathology, The University of Melbourne
Information provided by kConFab
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