Published 12 February 2021
(UroToday.com) The case presented was that of a 54-year-old man with an extensive family history of cancer. His mother died from ovarian cancer, his father had prostate cancer and died of colon cancer, his brother developed kidney and prostate cancer, and his sister had breast and ovarian cancer. The patient had germline testing, which revealed a heterozygous BRCA1 c.1961delA known pathogenic frameshift mutation that leads to a truncated or absent protein. The patient’s medical history was also notable for a pT1 seminoma treated with orchiectomy and radiotherapy (likely unrelated to the BRCA1 alteration) and a recent squamous cell of unknown primary in an inguinal node that was detected during his prostate cancer workup. This was treated with radiotherapy and concurrent 5FU/cisplatin.
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