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Germline Genetic Testing Among Women ≤ 45 Years of Age with Ductal Carcinoma In Situ Versus Invasive Breast Cancer in a Large Integrated Health Care System

  • Breast Oncology
  • Published:
Annals of Surgical Oncology Aims and scope Submit manuscript

Abstract

Background

We compared the results of hereditary cancer multigene panel testing among patients ≤ 45 years of age diagnosed with ductal carcinoma in situ (DCIS) versus invasive breast cancer (IBC) in a large integrated health care system.

Methods

A retrospective cohort study of hereditary cancer gene testing among women ≤ 45 years of age diagnosed with DCIS or IBC at Kaiser Permanente Northern California between September 2019 and August 2020 was performed. During the study period, institutional guidelines recommended the above population be referred to genetic counselors for pretesting counseling and testing.

Results

A total of 61 DCIS and 485 IBC patients were identified. Genetic counselors met with 95% of both groups, and 86.4% of DCIS patients and 93.9% of IBC patients (p = 0.0339) underwent gene testing. Testing differed by race/ethnicity (p = 0.0372). Among those tested, 11.76% (n = 6) of DCIS patients and 16.71% (n = 72) of IBC patients had a pathogenic variant (PV) or likely pathogenic variant (LPV) based on the 36-gene panel (p = 0.3650). Similar trends were seen in 13 breast cancer (BC)-related genes (p = 0.0553). Family history of cancer was significantly associated with both BC-related and non-BC-related PVs in IBC, but not DCIS.

Conclusion

In our study, 95% of patients were seen by a genetic counselor when age was used as an eligibility criterion for referral. While larger studies are needed to further compare the prevalence of PVs/LPVs among DCIS and IBC patients, our data suggest that even in younger patients, the prevalence of PVs/LPVs in BC-related genes is lower in DCIS patients.

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Acknowledgment

This research was supported by the Kaiser Permanente Graduate Medical Education and a DARE (Delivery Science and Applied Research) grant.

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Authors and Affiliations

  1. University of California San Francisco, East Bay, Oakland, CA, USA

    Diana S. Hsu MD & Jessica M. Dzubnar MD

  2. Division of Research, Kaiser Permanente, Oakland, CA, USA

    Sheng-Fang Jiang MS & Laurel A. Habel PhD

  3. Department of Genetics, Kaiser Permanente, Oakland, CA, USA

    Elizabeth Hoodfar MS, CGC, Audrey Karlea MS, CGC & Leslie Manace-Brenman MD

  4. Department of Surgery, Kaiser Permanente, Oakland, CA, USA

    Veronica C. Shim MD

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  1. Diana S. Hsu MD
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Correspondence to Veronica C. Shim MD.

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Disclosure

Diana S. Hsu, Sheng-Fang Jiang, Laurel A. Habel, Elizabeth Hoodfar, Audrey Karlea, Leslie Manace-Brenman, Jessica M. Dzubnar, and Veronica C. Shim have no conflicts of interest to disclose.

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Hsu, D.S., Jiang, SF., Habel, L.A. et al. Germline Genetic Testing Among Women ≤ 45 Years of Age with Ductal Carcinoma In Situ Versus Invasive Breast Cancer in a Large Integrated Health Care System. Ann Surg Oncol 30, 6454–6461 (2023). https://doi.org/10.1245/s10434-023-13745-4

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