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Connors. J Transl Genet Genom 2021;5:130-2 Journal of Translational
DOI: 10.20517/jtgg.2021.17
Genetics and Genomics

Editorial Open Access

King syndrome: what’s in a name?

Laurie M. Connors
Vanderbilt University School of Nursing, Vanderbilt University, Nashville, TN 37240, USA.
Correspondence to: Dr. Laurie M. Connors, Vanderbilt University School of Nursing, Vanderbilt University, 461 21st Ave South,
Nashville, TN 37240, USA. E-mail: laurie.m.connors@vanderbilt.edu

How to cite this article: Connors LM. King syndrome: what’s in a name? J Transl Genet Genom 2021;5:130-2.
https://dx.doi.org/10.20517/jtgg.2021.17

Received: 18 Mar 2020 Accepted: 18 Mar 2021 Available online: 26 Mar 2021

Academic Editor: Sanjay Gupta Copy Editor: Yue-Yue Zhang Production Editor: Yue-Yue Zhang

Hereditary breast and ovarian cancers have been associated with pathogenic genetic variants in the BRCA1
and BRCA2 genes for nearly 30 years due to the arduous work of Dr. Mary Claire King. Dr. King and her
research team identified the location of the BRCA1 gene in 1990 . Unfortunately, patent protection enlisted
[1]
by a biotechnology company limited access to BRCA genetic testing and research for nearly 20 years. In
June 2013, after the U.S. Supreme Court unanimously ruled that isolated human genes cannot be patented,
access and research on BRCA1/2 genes greatly expanded.

Yet, a gender bias likely exists which limits access to BRCA testing for males by a syndromic name that only
associates BRCA pathogenic variants with breast and ovarian cancers. It is estimated that 1 in 400
individuals harbor a germline BRCA1 or BRCA2 mutation and that estimate increased to 1 in 40 individuals
of Ashkenazi Jewish ancestry . There are disparities which exist for access to BRCA genetic testing with
[2]
[3]
regard to education level, insurance status, and race/ethnicity . Gender is an additional disparity as men
and women equally harbor these mutations, yet there is a significant difference in testing with women tested
[4]
significantly more often than men . If the syndrome associated with mutations in BRCA1/2 was changed to
King syndrome, the myopic view would not just be on breast and ovarian cancers, which have a
preponderance for the female population.

© The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.

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