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Germline BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics

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Abstract

Purpose

Originally, BRCA testing was used for risk assessment and prevention strategies for breast and ovarian cancer. Nowadays, BRCA status may influence therapeutic decision making at cancer diagnosis. Our objective was to analyze whether the medical advances have changed the burden and pattern of referral, and the pathogenic mutation detection rate.

Methods

We included 969 probands from our hereditary cancer registry who undertook a full BRCA analysis between 2006 and 2014. Chi-square tests were used to compare categorical variables.

Results

The number of genetic tests have raised from 28 to 170, representing a sixfold increase. In 2006, we tested 1.6 relatives/proband while this proportion was four in 2014. Overall, 20 % harbored a deleterious mutation and 11 % had a variant of unknown significance (VUS). There has been a downward trend in the detection rate of VUS. Testing patients with breast cancer during neoadjuvancy has raised from 4 to 25 % (p = 0.002), while testing them during remission has decreased from 79 to 29 % (p < 0.001). The proportion of patients assessed during the first 6 months after their cancer diagnosis has increased from 3 to 34 % (p = 0.001). Risk reducing mastectomy and salpingoophorectomy have raised from 0 to 24 %, and from 36 to 65 %, respectively.

Conclusions

BRCA testing has experienced a sixfold increase, the number of relatives being tested has doubled, and the test is being performed at earlier phases of the disease. It is necessary to adequate the health resources to preserve the BRCA genetic counseling quality while incorporating BRCA testing for therapeutic decision making.

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Authors and Affiliations

  1. High Risk and Cancer Prevention Unit, Medical Oncology Department, University Hospital Vall d’Hebron, Universitat Autònoma de Barcelona, and Vall d’Hebron Institute of Oncology (VHIO), Paseo Vall d’Hebron 119-129, 08035, Barcelona, Spain

    L. Moreno, C. Linossi, I. Esteban, N. Gadea, E. Carrasco, C. Cruz & J. Balmaña

  2. Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO) and Universitat Autònoma de Barcelona, Barcelona, Spain

    S. Bonache, S. Gutiérrez-Enríquez & O. Díez

  3. Clinical and Molecular Genetics Area, University Hospital Vall d’Hebron, Barcelona, Spain

    O. Díez

Authors
  1. L. Moreno
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  2. C. Linossi
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  3. I. Esteban
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  5. E. Carrasco
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Correspondence to J. Balmaña.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee. For this type of study formal consent is not required.

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Informed consent was obtained from all individual participants included in the study.

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Moreno, L., Linossi, C., Esteban, I. et al. Germline BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics. Clin Transl Oncol 18, 981–987 (2016). https://doi.org/10.1007/s12094-015-1470-0

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  • DOI: https://doi.org/10.1007/s12094-015-1470-0

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