The Association of Genetic Testing Timing and Mutation Type on Breast Cancer Management in Patients with Breast Cancer-related Mutations

Overview

Journal Am J Surg

Specialty General Surgery

Date 2024 Oct 11

PMID 39393970

Authors

Ebunoluwa J Olunuga

Samantha M Thomas

Koumani W Ntowe

Juliet C Dalton

Ton Wang

Akiko Chiba

Jennifer K Plichta

Affiliations

Soon will be listed here.

Abstract

Background: We aim to characterize breast management for patients with genetic mutations and concurrent breast cancer (BC) or prior BC treatment.

Methods: Adults with a BC-related mutation and prior/concurrent BC diagnosis were identified. Groups were stratified by mutation type [BRCA1/2, high penetrance mutation (HPM), moderate penetrance mutation (MPM)] and timing of genetic testing (concurrent with BC versus after BC treatment). Outcomes were compared.

Results: Among 338 patients included, 63 % had BRCA1/2 mutations, 9 % HPM, and 28 % MPM. Approximately 38 % had testing concurrent with a BC diagnosis and 62 % after BC treatment. Patients with concurrent testing favored bilateral mastectomy (57 %) versus 26 % lumpectomy, and 16 % unilateral mastectomy, which varied by mutation type. Patients previously treated preferred surveillance (92 % vs. 8 % additional surgery), regardless of mutation type.

Conclusion: The timing of a significant BC-related genetic test result and mutation type may be associated with management decisions among patients with breast cancer.

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