NEW YORK – The addition of functional data can help reclassify germline variants of unknown significance within the DNA binding domain of BRCA2, a new study has found.
Pathogenic germline variants in BRCA2 increase a person's risk of developing a number of cancers, particularly breast and ovarian cancer. Knowledge of such a pathogenic or likely pathogenic germline variant can influence how the person is screened for cancer as well as inform any later treatment, such as PARP inhibitor therapy, should the person develop cancer.