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A number of studies have shown that people who inherit a mutated copy of NBN from one parent are at increased risk of female breast cancer and prostate cancer. Ongoing research is studying the types cancers and the extent of cancer risk associated with inheriting a mutation in NBN from one parent.
National guidelines recommend annual mammogram and consideration of breast MRI with contrast beginning at age 40 for women with mutations in NBN. We recommend consulting with a genetics expert who can assess your personal and family history of cancer, and can help you to determine the best risk-management plan.
Inheriting mutated copies of the NBN gene from both parents causes a rare childhood disease called Nijmegen Breakage Syndrome (NBS). Children with NBS experience slow growth, have difficulty fighting infections, and are at increased risk of childhood cancers.