A 20-year-old man came in to see a surgeon and get genetic testing based on a history of breast cancer and a pathogenic BRCA2 variant in the family. The man’s mother, who accompanied him to see the surgeon, had been diagnosed with breast cancer in her late 20s and had known for some time that she had a BRCA2 mutation. Several of the mother’s relatives also had breast cancer and reportedly carried the same pathogenic BRCA2 variant.
The surgeon ordered a multigene panel for the young man. According to the test results, he had inherited the familial BRCA2 mutation, and he also had a RNF43 variant of unknown significance (VUS). Because this man had a BRCA2 mutation and a condition called gynecomastia, where an overabundance of estrogen results in swollen breast tissue, the surgeon recommended breast imaging and bilateral risk-reducing mastectomy.
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