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. 2024 Sep 2:55:101498.
doi: 10.1016/j.gore.2024.101498. eCollection 2024 Oct.

Germline genetic testing reveals pathogenic variants in uterine serous carcinoma patients

Katelyn Tondo-Steele  1 , Kara J Milliron  2 , Jean H Siedel  1 , Shitanshu Uppal  1 , Sofia D Merajver  2 , Karen McLean  1   3
Affiliations

Germline genetic testing reveals pathogenic variants in uterine serous carcinoma patients

Katelyn Tondo-Steele et al. Gynecol Oncol Rep. .

Abstract

An increase in the risk of developing uterine serous carcinoma (USC) has been observed among BRCA1 and BRCA2 germline pathogenic variant carriers in the published literature. However, routine germline genetic testing is not currently incorporated into USC management guidelines. The primary objective of this study is to define the incidence of germline pathogenic variants identified through genetic counseling referrals for USC patients at our institution. A retrospective cohort study was performed of patients diagnosed with USC at a single institution over a seven-year interval. A total of 91 patients with uterine serous carcinoma were identified. Almost half of the patients were referred to genetic counseling, and just over half of referred patients (24/43, 56%) ultimately underwent germline genetic testing. Pathogenic variants were noted in 12.5% (3/24) of the patients who were tested. Pathogenic mutations were found in BRCA1, BRCA2, and MSH6. Variants of unknown significance (VUS) were seen in 16.6% (4/24) of patients. Based on our findings, we recommend integration of germline testing into the standard management of patients with USC.

Keywords: BRCA; Genetic counseling; Genetic testing; Pathogenic variant; Uterine serous carcinoma.

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Conflict of interest statement

Dr. Jean Siedel is an Editorial Board for Gynecologic Oncology Reports and was not involved in the editorial review or the decision to publish this article. Other than this declaration, the authors have no financial interests/personal relationships which may be considered as potential competing interests.

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