Management impact of preoperative germline genetic testing in patients with breast cancer at the Lifespan Cancer Institute.

Authors

null

Kaitlyn P. Lew

Brown University, Providence, RI

Kaitlyn P. Lew , Don S. Dizon , Chanika Phornphutkul , Cindy Benson , Doreen Leyden Wiggins , Mary Anne Anne Fenton , Charu Taneja , Lauren J. Massingham

Organizations

Brown University, Providence, RI, Lifespan Cancer Institute and Brown University, Providence, RI, Rhode Island Hospital/Alpert School of Medicine at Brown University, Providence, RI, Rhode Island Hospital, Providence, RI, University Surgical/Alpert School of Medicine at Brown University, Providence, RI, Lifespan Cancer Institute, Providence, RI, Rhode Island Hospital/ Alpert Medical School of Brown University, Providence, RI

Research Funding

No funding received
None

Background: Breast cancer is a heterogenous disease and management is complex. Advances in next generation sequencing has allowed genetic testing to be more accessible. However, conveying results to patients and care team can be challenging due to various variant classifications. Diagnostic results have the potential to guide management. Nondiagnostic results can be misinterpreted. The extent to which preoperative genetic testing affects management of newly diagnosed breast cancer is unknown. Methods: Newly diagnosed breast cancer patients were identified via review of breast tumor board between May 2019 and March 2019 followed by chart review to collect detailed information. Results: 408 newly diagnosed breast cancer cases were queried. Genetic evaluation was recommended and completed in 68%, not recommended (did not meet NCCN criteria) in 30% and declined in 2.7%. The genetic evaluation recommended cohort was associated with a higher mastectomy rate in comparison with when not recommended (31% vs. 9%, p=0.0001). Of those who completed genetic testing: 12% harbored a pathogenic/likely pathogenic variant (PV/LPV), 26% had a nondiagnostic variant of uncertain significance (VUS) and 61% had negative testing. Comparison between nondiagnostic test results (negative and VUS) and diagnostic test results revealed significantly increased number of women in the diagnostic group who chose mastectomy over breast conservation therapy (BCT, nondiagnostic 20% vs diagnostic 39%, p=0.018). When negative, VUS, and PV/LPV were each independently analyzed, diagnostic test results again revealed a significantly increased number of mastectomies over BCT (p<0.05). Comparison of surgical choices in nondiagnostic VUS vs. negative results was not significantly different (Table). Comparing the surgical timelines, completing a genetic evaluation did not affect surgery timing (mean 2.3 vs. 2.2 months, p>0.5). Conclusions: Germline genetic testing in patients with newly diagnosed breast cancer impacts clinical management. Those harboring a diagnostic result were more likely to choose mastectomy over BCT. Not surprisingly, mastectomy rate was higher among those where genetic evaluation was recommended, possibly due to concerning personal or family history. The mastectomy rate was higher among those with a diagnostic result, indicating an understanding of the genetic testing significance by patients and the care team. More importantly, those who harbored nondiagnostic VUS did not make significantly different surgical choices compared with negative genetic testing, highlighting the critical role of proper genetic counseling and being part of the care team. We conclude consideration of genetic evaluation is clinically useful and feasible without affecting the surgical timeline.

BCT*
MRM*
Normal
121 (77)
36 (23)
PV/LPV
19 (61)
12 (39)
VUS
49 (89)
6 (11)

*Number of patients (%).

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Abstract Details

Meeting

2021 ASCO Annual Meeting

Session Type

Poster Session

Session Title

Prevention, Risk Reduction, and Hereditary Cancer

Track

Prevention, Risk Reduction, and Genetics

Sub Track

Cancer Genetics

Citation

J Clin Oncol 39, 2021 (suppl 15; abstr 10523)

DOI

10.1200/JCO.2021.39.15_suppl.10523

Abstract #

10523

Poster Bd #

Online Only

Abstract Disclosures