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Prevalence of Suspected Hereditary Cancer Syndromes and Mutations in Family History of Prostate Cancer
Key clinical point: Findings implicate BRCA mutations in AA families with hereditary cancer syndromes (HCSs) linked with prostate cancer (PCa), underscoring the need for greater enrollment of AA participants in genetic studies.
Major finding: Among probands who underwent genetic testing with any HCS potentially linked to PCa family history (FHx) (n=169), 19.5% had germline mutations identified; 5 AA probands had germline mutations (all in BRCA1/2), while 28 Wh probands had mutations in a spectrum of genes.
Study details: Prospective genetic testing database was queried for individuals with PCa FHx, and were analyzed for 3 HCSs: hereditary breast and ovarian cancer, hereditary PCa, and Lynch syndrome.
Chandrasekar T, et al. Eur Urol Oncol. 2019 Jul 2. pii: S2588-9311(19)30085-9. doi: 10.1016/j.euo.2019.06.010.
Recently, there has been significant activity in research on how hereditary cancer gene products may targeted in prostate cancer. Several trials are underway in metastatic prostate cancer focused on evaluating the efficacy of PARP inhibitors in patients with DNA repair deficiencies. DNA repair pathway alterations are either acquired or part of a hereditary cancer syndrome. In the accompanying study, Chandrashekr et al. evaluated patients who underwent genetic testing with any hereditary cancer syndrome potentially linked to a prostate cancer family history and found that 19.5% had germline mutations. Their findings support the ongoing need to test patients for these deficiencies. —Mark A. Klein, MD