Inherited Germline Variants in Urinary Tract Cancer: A Multicenter Whole-Exome Sequencing Analysis and Correlation With Clinical Features and Tumor Genomics.
Wendy K KohlmannDavid A NixKristen PauleySamantha E GreenbergAaron AtkinsonKenneth M BoucherJill M KolesarEric A SingerStephen B EdgeMichelle L ChurchmanLaura S GrahamBodour SalhiaAlejandro SanchezYousef ZakhariaKenneth G NeppleBryan Paul SchneiderLindsey ByrneRohit K JainJad ChahoudBing-Jian FengSumati V GuptaPublished in: JCO precision oncology (2024)
Tissue-based assessment of genomic instability, such as MSI, does not reliably indicate germline PV. A comprehensive clinical germline testing approach that includes HRR genes in addition to MMR genes is likely to yield PVs in approximately one of 10 patients with nonbladder primary disease sites such as the upper tract and the urethra.