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Bilateral Disease Common Among Slovenian CHEK2-Positive Breast Cancer Patients

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

Abstract

Background

Currently, data on pathogenic variants in the CHEK2 gene and their impact on cancer risk are lacking. This study aimed to explore the characteristics of breast cancer (BC) patients from families with CHEK2 pathogenic variants in Slovenia.

Methods

In the years 2014 to 2019, CHEK2 pathogenic variants/likely pathogenic variants (PV/LPVs) were found in probands from 50 different families who underwent genetic counseling and testing using a multigene panel at the authors’ institution. Altogether, the study enrolled 75 individuals from 50 CHEK2 families who were carriers of a CHEK2 PV/LPV. The clinical data on 41 BC patients with CHEK2 PV/LPV and other carriers of CHEK2 PV/LPV from Slovenia were collected and analyzed.

Results

Breast cancer was diagnosed in 41 of 75 CHEK2 PV/LPV carriers (40 females, 1 male). The mean age at BC diagnosis was 42.8 years (range, 21–63 years), and 27 (65.8%) of the 41 of patients with BC had a positive family history for BC. Contralateral BC (CBC) was observed in 8 (19.5%) of the 41 patients (mean age, 55.6 years). Of 12 patients with human epidermal growth factor receptor 2 (HER2)-positive tumor type, a c.444+1G > A PV/LPV was detected in 4 patients, c.349A > G in 3 patients, deletion of exons 9–10 in 3 patients, deletion of exon 8 in 1 patient, and c.1427C > T PV/LPV in 1 patient.

Conclusion

Bilateral BC was diagnosed in as many as 19.5% of the Slovenian BC patients with CHEK2 PV/LPVs. Breast cancer associated with a germline CHEK2 PV/LPV occurs in younger patients compared with sporadic BC.

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Acknowledgments

This research was funded by the Ministry of Education, Science and Sport of the Republic of Slovenia, grant nos. P3-0289 and P3-0352.

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Authors and Affiliations

  1. Department of Surgical Oncology, Institute of Oncology, Zaloska 2, 1000, Ljubljana, Slovenia

    Tea Nizic-Kos MD & Nikola Besic MD, PhD

  2. Cancer Genetics Clinic, Institute of Oncology, Zaloska 2, 1000, Ljubljana, Slovenia

    Mateja Krajc MD, PhD & Ana Blatnik MD

  3. Department of Molecular Diagnostics, Institute of Oncology, Zaloska 2, 1000, Ljubljana, Slovenia

    Vida Stegel PhD, Petra Skerl PhD & Srdjan Novakovic PhD

  4. Department of Pathology, Institute of Oncology, Zaloska 2, 1000, Ljubljana, Slovenia

    Barbara Gazic MD, PhD

Authors
  1. Tea Nizic-Kos MD
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  2. Mateja Krajc MD, PhD
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  3. Ana Blatnik MD
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  4. Vida Stegel PhD
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  7. Barbara Gazic MD, PhD
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  8. Nikola Besic MD, PhD
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Correspondence to Nikola Besic MD, PhD.

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Nizic-Kos, T., Krajc, M., Blatnik, A. et al. Bilateral Disease Common Among Slovenian CHEK2-Positive Breast Cancer Patients. Ann Surg Oncol 28, 2561–2570 (2021). https://doi.org/10.1245/s10434-020-09178-y

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  • DOI: https://doi.org/10.1245/s10434-020-09178-y

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