Ed Esplin, SVP of Medical Affairs at Biocartis, shared on LinkedIn:
“More than 9% of unselected patients with Urinary Tract Cancer (UTC) had a PGV on germline genetic testing
Approximately 0.7% had a PGV consistent with Lynch syndrome.
Approximately 6-8% had a DDR PGV.
3 UTC patients with Lynch syndrome who received an ICI and were without evidence of disease after 21-86 months of follow-up.
2 patients with muscle-invasive bladder cancer and DDR PGVs received neoadjuvant platinum chemotherapy and had pCR and no recurrence after 53-61 months.
1/3 patients are missed with current National Comprehensive Cancer Network (NCCN) and European Association of Urology guidelines (Kent Kamau et al European Urology Oncology)
Germline pathogenic variants identified in patients with genitourinary malignancies undergoing universal testing (Dr Mouneeb Choudry et al Journal of Urology American Urological Association)
Universal germline genetic testing in patients with Solid Tumor Cancer (Ed Esplin et al JCO Journals)
Universal germline and Tumor Genomic Testing Needed to Win the War Against Cancer (Vivek Subbiah, Razelle Kurzrock JCO Journals American Society of Clinical Oncology)
Universal germline testing for all patients with UTC.”

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