Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2018 Oct;17(4):471-483.
doi: 10.1007/s10689-017-0038-2.

Mutations in context: implications of BRCA testing in diverse populations

Gabriela E S Felix  1   2   3 , Yonglan Zheng  1 , Olufunmilayo I Olopade  4   5
Affiliations
Review

Mutations in context: implications of BRCA testing in diverse populations

Gabriela E S Felix et al. Fam Cancer. 2018 Oct.

Abstract

Cancer is a common non-communicable disease worldwide, although it exhibits differential population trends in incidence and mortality rates. The differences relate to population structure, environmental risk factors as well as health system organization. This article discusses the potential impact of genetic testing on population health, focusing in particular on the mutational spectrum of breast cancer susceptibility genes in diverse populations. We identify the need for improved access to, and increased investment in, comprehensive cancer risk assessment and genetic testing as well as cancer control measures that take into account lifestyle, environmental, and social factors in understudied minority groups.

Keywords: Breast cancer; Disparity; Genetic testing; Precision medicine.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest: OIO is a Co-Founder at CancerIQ.

References

    1. WHO. Global status report on noncommunicable diseases 2014. World Health; 2014.
    1. Skol AD, Sasaki MM, Onel K. The genetics of breast cancer risk in the post-genome era: thoughts on study design to move past BRCA and towards clinical relevance. Breast Cancer Res. 2016;18:99. doi: 10.1186/s13058-016-0759-4. - DOI - PMC - PubMed
    1. Collins FS, Varmus H. A New Initiative on Precision Medicine. N Engl J Med. 2015;372:793–795. doi: 10.1056/NEJMp1500523. - DOI - PMC - PubMed
    1. Mardis ER. Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet. 2008;9:387–402. doi: 10.1146/annurev.genom.9.081307.164359. - DOI - PubMed
    1. Mardis ER. The impact of next-generation sequencing technology on genetics. Trends Genet. 2008;24:133–41. doi: 10.1016/j.tig.2007.12.007. - DOI - PubMed

Publication types