Evaluating the NCCN Clinical Criteria for Recommending BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer

Authors:
Caiqian Cropper From The University of Texas Graduate School of Biomedical Sciences at Houston; Departments of Clinical Cancer Genetics and Breast Medical Oncology, The University of Texas MD Anderson Cancer Center; Department of Obstetrics, Gynecology, and Reproductive Sciences, UT Health McGovern Medical School; and Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas.

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Ashley Woodson From The University of Texas Graduate School of Biomedical Sciences at Houston; Departments of Clinical Cancer Genetics and Breast Medical Oncology, The University of Texas MD Anderson Cancer Center; Department of Obstetrics, Gynecology, and Reproductive Sciences, UT Health McGovern Medical School; and Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas.

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Banu Arun From The University of Texas Graduate School of Biomedical Sciences at Houston; Departments of Clinical Cancer Genetics and Breast Medical Oncology, The University of Texas MD Anderson Cancer Center; Department of Obstetrics, Gynecology, and Reproductive Sciences, UT Health McGovern Medical School; and Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas.
From The University of Texas Graduate School of Biomedical Sciences at Houston; Departments of Clinical Cancer Genetics and Breast Medical Oncology, The University of Texas MD Anderson Cancer Center; Department of Obstetrics, Gynecology, and Reproductive Sciences, UT Health McGovern Medical School; and Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas.

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Carlos Barcenas From The University of Texas Graduate School of Biomedical Sciences at Houston; Departments of Clinical Cancer Genetics and Breast Medical Oncology, The University of Texas MD Anderson Cancer Center; Department of Obstetrics, Gynecology, and Reproductive Sciences, UT Health McGovern Medical School; and Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas.

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Jennifer Litton From The University of Texas Graduate School of Biomedical Sciences at Houston; Departments of Clinical Cancer Genetics and Breast Medical Oncology, The University of Texas MD Anderson Cancer Center; Department of Obstetrics, Gynecology, and Reproductive Sciences, UT Health McGovern Medical School; and Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas.
From The University of Texas Graduate School of Biomedical Sciences at Houston; Departments of Clinical Cancer Genetics and Breast Medical Oncology, The University of Texas MD Anderson Cancer Center; Department of Obstetrics, Gynecology, and Reproductive Sciences, UT Health McGovern Medical School; and Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas.

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Sarah Noblin From The University of Texas Graduate School of Biomedical Sciences at Houston; Departments of Clinical Cancer Genetics and Breast Medical Oncology, The University of Texas MD Anderson Cancer Center; Department of Obstetrics, Gynecology, and Reproductive Sciences, UT Health McGovern Medical School; and Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas.
From The University of Texas Graduate School of Biomedical Sciences at Houston; Departments of Clinical Cancer Genetics and Breast Medical Oncology, The University of Texas MD Anderson Cancer Center; Department of Obstetrics, Gynecology, and Reproductive Sciences, UT Health McGovern Medical School; and Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas.

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Diane Liu From The University of Texas Graduate School of Biomedical Sciences at Houston; Departments of Clinical Cancer Genetics and Breast Medical Oncology, The University of Texas MD Anderson Cancer Center; Department of Obstetrics, Gynecology, and Reproductive Sciences, UT Health McGovern Medical School; and Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas.

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Minjeong Park From The University of Texas Graduate School of Biomedical Sciences at Houston; Departments of Clinical Cancer Genetics and Breast Medical Oncology, The University of Texas MD Anderson Cancer Center; Department of Obstetrics, Gynecology, and Reproductive Sciences, UT Health McGovern Medical School; and Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas.

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Molly Daniels From The University of Texas Graduate School of Biomedical Sciences at Houston; Departments of Clinical Cancer Genetics and Breast Medical Oncology, The University of Texas MD Anderson Cancer Center; Department of Obstetrics, Gynecology, and Reproductive Sciences, UT Health McGovern Medical School; and Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas.
From The University of Texas Graduate School of Biomedical Sciences at Houston; Departments of Clinical Cancer Genetics and Breast Medical Oncology, The University of Texas MD Anderson Cancer Center; Department of Obstetrics, Gynecology, and Reproductive Sciences, UT Health McGovern Medical School; and Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas.

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Volume/Issue:
Volume 15: Issue 6
Online Publication Date:
Jun 2017
DOI:
https://doi.org/10.6004/jnccn.2017.0107
Restricted access

Background: Mutations in the BRCA1 and BRCA2 genes predispose individuals to a significantly elevated risk for breast and ovarian cancers. Identification of these individuals allows for proper screening, management, and testing of at-risk relatives. NCCN has established clinical criteria for recommending BRCA1/2 testing. Patients and Methods: A retrospective chart review of 1,123 patients with breast cancer was performed to evaluate the positive predictive values (PPVs) of 14 individual criteria for predicting BRCA1/2 mutations. Results: Two criteria had PPVs significantly below 10%. Only 2 of 115 patients who were recommended for testing based solely on the criterion of “diagnosed with breast cancer at ≤45 years of age” had pathogenic mutations at a PPV of 1.6% (95% CI, 0.2%–6.0%). Additionally, 0 of 37 individuals who underwent testing based on the criterion, “diagnosed with breast cancer at any age with ≥2 close blood relatives with breast cancer at any age” tested positive (95% CI, 0%–9%). Overall, meeting >1 criterion has a PPV of 12%, whereas meeting only 1 criterion has a PPV of 3.2% (95% CI, 1.6%–5.7%), significantly below 10% (P<.0001) for predicting BRCA1/2 positivity. Conclusions: Patients with breast cancer meeting >1 criterion constitute a population significantly enriched for BRCA1/2 mutations, whereas those meeting only 1 criterion test positive at a rate similar to unselected patients with breast cancer. These data will inform ongoing discussions regarding how to best implement BRCA1/2 genetic testing.

Author contributions: Study design: all authors. Data acquisition: Cropper, Daniels. Data analysis: Cropper, Liu, Park. Manuscript preparation: all authors.

Correspondence: Molly Daniels, MS, CGC, The University of Texas MD Anderson Cancer Center, Unit 1362, PO Box 301439, Houston, TX 77230-1439. E-mail: msdaniel@mdanderson.org
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Print ISSN:
1540-1405
Online ISSN:
1540-1413
Publisher:
National Comprehensive Cancer Network
Cover Journal of the National Comprehensive Cancer Network
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Copyright:
Copyright © 2017 by the National Comprehensive Cancer Network 2017
Page Numbers:
7
Article Category:
Research Article
Received:
29 Jul 2016
Accepted:
31 Jan 2017
Print Publication Date:
01 Jun 2017
Online Publication Date:
Jun 2017

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