Scientific research has already unearthed various predictors of ovarian cancer, included the BRCA1 and BRCA2 genes, however not all cases of ovarian cancers can be linked to these known genes. To this end, our researchers (including Drs P. Tonin, M. Tischkowitch, W.Foulkes, A-M Mes-Masson and D.Provencher) have sought to find new genes that might predict susceptibility. The PALB2 c.2323C>T [p.Q775X] mutation is a founder mutation found in the French Canadian community that was already known to increase risk of breast cancer. In this case, researchers hoped to see if this founder mutation might be linked to ovarian cancer as well. Researchers screened families of French Canadian descent, some of whom had cases of non-BRCA1/2 breast cancer, for this mutation, as well as women of French Canadian descent who had ovarian cancer or potential tumours. Their data found that the PALB2 c.2323C>T [p.Q775X] founder mutation should in fact be added to the list of cancer susceptibility genes.
Tischkowitz M, Sabbaghian N, Hamel N, Pouchet C, Foulkes WD, Mes-Masson AM, Provencher DM, Tonin PN. BMC Med Genet. 2013 Jan 9;14:5. doi: 10.1186/1471-2350-14-5.