Skip to main content

Advertisement

SpringerLink
Log in

Questioning the validity of clinically available breast cancer polygenic risk scores: comparison of two labs reveals discrepancies

  • Letter to the Editor
  • Published:
Familial Cancer Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Lall K, Lepamets M, Palover M et al (2019) Polygenic prediction of breast cancer: comparison of genetic predictors and implications for risk stratification. BMC Cancer 19:557. https://doi.org/10.1186/s12885-019-5783-1

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Popejoy AB, Fullerton SM (2016) Genomics is failing on diversity. Nature 538:161–164. https://doi.org/10.1038/538161a

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Mostafavi H, Harpak A, Agarwal I, Conley D, Pritchard JK, Przeworski M (2020) Variable prediction accuracy of polygenic scores within an ancestry group. Elife. https://doi.org/10.7554/eLife.48376

    Article  PubMed  PubMed Central  Google Scholar 

  4. National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 1.2021. Accessed 20 Apr 2021

  5. Mavaddat N, Michailidou K, Dennis J et al (2019) Polygenic risk scores for prediction of breast cancer and breast cancer subtypes. Am J Hum Genet 104:21–34. https://doi.org/10.1016/j.ajhg.2018.11.002

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Columbia University Irving Medical Center, 1150 St. Nicholas Ave, Russ Berrie Pavilion, 6th Fl, Rm620, New York, NY, 10032, USA

    Julia Wynn & Wendy K. Chung

  2. Department of Medicine, Columbia University Irving Medical Center, 1150 St. Nicholas Ave, Russ Berrie Pavilion, 6th Fl, Rm620, New York, NY, 10032, USA

    Elana Levinson, Carrie Koval & Wendy K. Chung

  3. Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY, USA

    Michelle E. Ernst

Authors
  1. Julia Wynn
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Elana Levinson
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Carrie Koval
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Michelle E. Ernst
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Wendy K. Chung
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

JW conceived, designed the project, made substantial contribution to the acquisition of data, was the primary author of the commentary, approved the final version for publication and is accountable for all aspects of the work. EL designed the project, made substantial contribution to the acquisition of data, critically reviewed the commentary, approved the final version for publication and is accountable for all aspects of the work. CK made substantial contribution to the acquisition of data, critically reviewed the commentary, approved the final version for publication and is accountable for all aspects of the work. ME made substantial contribution to the acquisition of data, critically reviewed the commentary, approved the final version for publication and is accountable for all aspects of the work. WKC conceived the project, critically reviewed the commentary, approved the final version for publication, and is accountable for all aspects of the work.

Corresponding author

Correspondence to Wendy K. Chung.

Ethics declarations

Conflict of interest

Julia Wynn, Elana Levinson, Carrie Koval, Michelle Ernst, Wendy K Chung declare have no conflict of interest to disclose.

Consent to participant

Informed consent for participation was obtained from all participants.

Consent to publication

Informed consent for publication including quotes from their interviews was obtained from all participants.

Ethical approval

This study was approved by the Columbia University Irving Medical Center Institutional Review Board. Study ID AAAS3090.

Additional information

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Wynn, J., Levinson, E., Koval, C. et al. Questioning the validity of clinically available breast cancer polygenic risk scores: comparison of two labs reveals discrepancies. Familial Cancer 21, 125–127 (2022). https://doi.org/10.1007/s10689-021-00260-2

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10689-021-00260-2

Search

Navigation