(August 24, 2018) A recent study, published in JAMA Oncology, shed light on non-BRCA gene associations to breast and ovarian cancers. Researchers discovered new genes and confirmed previously existing evidence by conducting a whole-exome analysis of 11,416 patients with breast, ovarian, or both cancers and compared them with 3,988 people in a control group in 2014 and 2015. It was found that ATM, a gene already associate with breast cancer, was also strongly correlated to ovarian cancer risk. Conversely, MSH6, which was already known to be linked to ovarian cancer, was also found to have an associate risk to breast cancer.
In addition to those stated above, other genes found to increase risk of breast cancer include PALB2 and CHEK2, while genes that increased one’s risk of ovarian cancer include RAD51C and TP53. Equally as important, the researchers’ findings did not support an increased risk of breast or ovarian cancer with the MRN complex or CDKN2A. BRIP1, RAD51C, and RAD51D were all not found to affect one’s risk for breast cancer, although they are known to increase ovarian cancer susceptibility.
There were some limitations of the study, such as incomplete personal history data in the control group and that some of the samples came from The Cancer Genome Atlas. Although researchers are excited about the potential of understanding these risk-associated genes, editorialist Lucy Side, MD, of the University Hospital Southampton NHS Foundation Trust emphasized that, “any diagnostic test aimed at informing clinical interventions should have demonstrable clinical utility and be appropriate to the context in which it is used.”
You can also read more about the study here.