Germline studies in testicular cancer have focused on unselected populations but so far have not led to recommendations for testicular cancer screening.
Herein, we hypothesized that men with testicular cancer and an additional risk factor for hereditary cancer predisposition carry a higher rate of pathogenic variants than men with testicular cancer without another risk factor.
187 patients with a personal history of testicular cancer underwent germline testing via Invitae. Patients were divided into low-risk and high-risk patients. Low-risk patients (n=83) had testicular cancer as their only primary malignancy without a family history of testicular cancer. High-risk patients (n=104) had additional primary malignancies and/or a family history of testicular cancer. 23.1% of patients harbored pathogenic germline variants with 19.6% carrying actionable variants. Among low-risk patients, 13.5% carried pathogenic variants versus 29.9% in the high-risk cohort. Of patients with a family history of non-testicular cancers and a personal history of additional primary malignancies, 32% harbored pathogenic variants.
High-risk patients are twice as likely to harbor pathogenic variants compared to low-risk patients. Importantly, patients with a family history of cancer and other primary malignancies represent a subset of patients that may benefit from genetic evaluation.
Urologic oncology. 2022 Jan 09 [Epub ahead of print]
Chethan Ramamurthy, Amin H Nassar, Sarah Abou Alaiwi, Elio Adib, Elie W Akl, Shan Yang, Edward D Esplin, Michael A Liss, Gail E Tomlinson, Guru P Sonpavde
Department of Medical Oncology, UT Health San Antonio, San Antonio, TX. Electronic address: ., Lank Center for Genitourinary Oncology, Dana-Farber Cancer Institute, Boston, MA; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA., Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA., Invitae Corporation, San Francisco, CL., Department of Medical Oncology, UT Health San Antonio, San Antonio, TX., Department of Pediatrics, Division of Hematology and Oncology and Greehey Children's Cancer Research Institute, University of Texas Health Science Center at San Antonio, San Antonio, TX., Lank Center for Genitourinary Oncology, Dana-Farber Cancer Institute, Boston, MA.