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Prevalent versus incident breast cancers: benefits of clinical and radiological monitoring in women with pathogenic BRCA1/2 variants

European Journal of Human Genetics volume 30, pages 1060–1066 (2022)Cite this article

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Abstract

Women with pathogenic germline BRCA1 or BRCA2 variants have a higher risk of breast cancer than in the general population. International guidelines recommend specific clinical and radiological breast follow-up. This specific breast screening program has already been shown to be of clinical benefit, but no information is available concerning the use of prognostic factors or specific survival to guide follow-up decisions. We evaluated “high-risk” screening in a retrospective single-center study of 520 women carrying pathogenic germline variants of the BRCA1 or BRCA2 gene treated for breast cancer between January 2000 and December 2016. We compared two groups of women: the incidental breast cancer group (IBCG) were followed before breast cancer diagnosis (N = 103), whereas the prevalent breast cancer group (PBCG) (N = 417) had no specific follow-up for high risk before breast cancer diagnosis. Breast cancers were diagnosed at an earlier stage in the IBCG than in the PBCG: T0 in 64% versus 19% of tumors, (p < 0.00001), and N0 in 90% vs. 75% (p < 0.00001), respectively. Treatment differed significantly between the 2 groups: less neoadjuvant chemotherapy (7.1% vs. 28.5%, p < 0.00001), adjuvant chemotherapy (47.7% vs. 61.9%, p = 0.004) and more mastectomies (60% vs. 42% p < 0.0001) in the IBCG vs PBCG groups respectively. Overall and breast cancer-specific mortality were similar between the two groups. However, the patients in the IBCG had a significantly longer metastasis-free survival than those in the PBCG, at three years (96.9% [95% CI 93.5–100] vs. 92.30% [95% CI 89.8–94.9]; p = 0.02), suggesting a possible long-term survival advantage.

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Fig. 1: Metastasis-free survival by screening group.

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Data availability

The clinical data analyzed during the current study are available from the corresponding author on reasonable request.

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Funding

This project has not received specific funding.

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Author notes

  1. These authors contributed equally: Claire Saule, Solveig Menu-Hespel.

Authors and Affiliations

  1. Institut Curie, Department of Genetics, PSL Research University, Paris, France

    Claire Saule, Marine Le Mentec, Nasrine Callet, Sophie Frank, Dominique Stoppa-Lyonnet & Emmanuelle Mouret-Fourme

  2. CHU, Department of Genetics, Lille, France

    Solveig Menu-Hespel

  3. Institut Curie, Department of Biometry, DRCI, PSL Research University, Paris, France

    Matthieu Carton

  4. Institut Curie, Department of Medical Imaging, PSL Research University, Paris, France

    Caroline Malhaire

  5. Institut Curie, INSERM, LITO Laboratory, 91401, Orsay, France

    Caroline Malhaire

  6. Institut Curie, Department of Medical Imaging, Saint-Cloud, France

    Pascal Cherel

  7. Institut Curie, Department of Surgery, PSL Research University, Paris, France

    Fabien Reyal

  8. Institut Curie, Residual Tumour & Response to Treatment Laboratory (RT2Lab), INSERM, U 932 Immunity and Cancer, Paris, France

    Fabien Reyal

  9. Institut Curie, Department of Surgery, Saint-Cloud, France

    Eugénie Guillot

  10. Institut Curie, Department of Medical Oncology, Saint-Cloud, France

    Anne Donnadieu & Nasrine Callet

  11. Institut Curie, Department of Medical Oncology, PSL Research University, Paris, France

    Sophie Frank & Florence Coussy

  12. Institut Curie, INSERM U830, Paris, France

    Dominique Stoppa-Lyonnet

  13. Université de Paris, Paris, France

    Dominique Stoppa-Lyonnet

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  1. Claire Saule
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Contributions

Study design: CS, SMH, EMF, DSL. Data collection: CS, SMH, EMF. Data analysis: EMF, MC. Data interpretation: CS, SMH, EMF. Writing: CS, SMH, EMF. Extensive revision of the manuscript: CS, SMH, MC, CM, PC, FR, ML, EG, AD, NC, SF, FC, DSL, EMF.

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Correspondence to Claire Saule.

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The authors declare no competing interests.

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The study was approved by the Breast Cancer Study Group of Institut Curie and was conducted according to institutional and ethical rules concerning research on tissue specimens and patients.

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Saule, C., Menu-Hespel, S., Carton, M. et al. Prevalent versus incident breast cancers: benefits of clinical and radiological monitoring in women with pathogenic BRCA1/2 variants. Eur J Hum Genet 30, 1060–1066 (2022). https://doi.org/10.1038/s41431-022-01049-2

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