Breast Cancer Research and Treatment

, Volume 178, Issue 1, pp 151–159 | Cite as

Assessing the effectiveness of the National Comprehensive Cancer Network genetic testing guidelines in identifying African American breast cancer patients with deleterious genetic mutations

  • Foluso O. AdemuyiwaEmail author
  • Patricia Salyer
  • Yinjiao Ma
  • Sherri Fisher
  • Graham Colditz
  • Katherine Weilbaecher
  • Laura J. Bierut



Approximately, 10% of breast cancers are hereditary. Identifying women at high risk for hereditary breast and ovarian cancer allows for early detection, prevention, and individualized disease management for those diagnosed with breast cancer. There is limited data about breast cancer genetic risks among African Americans as the majority of the large studies have been conducted in European Americans. We examined the distribution of deleterious genetic mutations in African American breast cancer patients, and evaluated the effectiveness of the National Comprehensive Cancer Network (NCCN) guidelines for identifying African American women at high risk for deleterious genetic mutations.


African American participants with breast cancer underwent an interview regarding health and family history, and a 30-gene saliva test. Medical records were accessed to determine whether participants had received prior genetic testing as part of usual care, results of previous testing, and cancer characteristics.


Two hundred and fifty participants were enrolled between February 2016 and May 2018. Twenty (8.0%) had a deleterious mutation in one of the 30 genes; BRCA2 had the highest frequency (40.0%). 187 (74.8%) met eligibility for testing based on NCCN guidelines. Only 110 (58.8%) of participants eligible for genetic testing, according to guidelines, had received prior testing as part of routine care. Using the 30-gene test, we identified deleterious mutations in 17 of 187 (9.1%) of those who met NCCN criteria for testing, and three of 63 (4.8%) of those who did not meet criteria for testing nonetheless had a deleterious mutation associated with breast cancer.


Our results indicate that a large proportion of African American breast cancer patients who meet criteria for genetic testing do not receive it as part of routine care. Even in women who do not meet testing guidelines, nearly 5% have a known deleterious mutation associated with breast cancer.


Breast cancer Genetics Deleterious mutation African American NCCN guidelines 



National Comprehensive Cancer Network


Hereditary breast and ovarian cancer


Triple-negative breast cancer


Variants of undetermined significance



This study was funded by the Alvin J. Siteman Cancer Center at Barnes Jewish Hospital and Washington University School of Medicine.

Compliance with ethical standards

Conflict of interest

Foluso Ademuyiwa has served as an advisory board member for Eisai, Astra Zeneca, Jounce, Immunomedics, and QED Therapeutics. Foluso Ademuyiwa performs consulting for Cardinal Health, Best Doctors, Advance Medical Inc. Foluso Ademuyiwa has received institutional research funding from Polyphor, Pfizer, RNA Diagnostics, Immunomedics, Abbvie, and Seattle Genetics. Laura J. Bierut is listed as an inventor on Issued U.S. Patent 8,080,371,“Markers for Addiction” covering the use of certain SNPs in determining the diagnosis, prognosis, and treatment of addiction. Patricia Salyer, Yinjiao Ma, Sherri Fisher, Graham Colditz, and Katherine Weilbaecher declare that they have no conflict of interest.

Ethical approval

This article does not contain any studies with animals performed by any of the authors. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

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

Supplementary material

10549_2019_5359_MOESM1_ESM.pdf (112 kb)
Supplementary material 1 (PDF 111 kb)
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Supplementary material 2 (PDF 63 kb)
10549_2019_5359_MOESM3_ESM.pdf (72 kb)
Supplementary material 3 (PDF 71 kb)
10549_2019_5359_MOESM4_ESM.pdf (79 kb)
Supplementary material 4 (PDF 78 kb)


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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Washington University School of MedicineSt. LouisUSA
  2. 2.Division of Oncology, Department of MedicineWashington University School of MedicineSt. LouisUSA

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