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Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?

In 2010, the genetic testing criteria was changed to allow women diagnosed ≤ 60 years old with triple negative breast cancer (TNBC) to undergo germline testing. In the same year, estrogen receptor (ER) positivity was defined as having ≥1% ER staining cells. While tumors with 1–10% ER staining cells...

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Autores principales: Lovejoy, Leann A., Turner, Clesson E., Wells, Justin M., Shriver, Craig D., Ellsworth, Rachel E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763582/
https://www.ncbi.nlm.nih.gov/pubmed/33302456
http://dx.doi.org/10.3390/genes11121469
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author Lovejoy, Leann A.
Turner, Clesson E.
Wells, Justin M.
Shriver, Craig D.
Ellsworth, Rachel E.
author_facet Lovejoy, Leann A.
Turner, Clesson E.
Wells, Justin M.
Shriver, Craig D.
Ellsworth, Rachel E.
author_sort Lovejoy, Leann A.
collection PubMed
description In 2010, the genetic testing criteria was changed to allow women diagnosed ≤ 60 years old with triple negative breast cancer (TNBC) to undergo germline testing. In the same year, estrogen receptor (ER) positivity was defined as having ≥1% ER staining cells. While tumors with 1–10% ER staining cells and HER2 negative (HER2-) status share characteristics with TNBC, the utility of germline testing in women with ER low positive/HER2- (ERLP/HER2-) tumors is not well-understood. To this end, all patients with hormone receptor positive staining cells ≤ 10% and negative HER2 status were identified. Clinical genetic test results were extracted for patients who underwent testing. Panel testing was performed for those women who had genomic DNA available for research purposes. ERLP/HER2-tumors constituted 2.7% of all tumors in the database. Patients did not differ significantly from those with TNBC by age at diagnosis, ethnicity, family history or tumor size, stage or grade (p > 0.05). Mutation frequency did not differ significantly (p = 0.757) between groups (ERLP/HER2- 16.1%; TNBC 16.7%). Hereditary forms of breast cancer were similar in both ERLP/HER2- and TNBC, thus current guidelines may result in the under testing of women with low ER tumors, resulting in missed opportunities to improve patient management.
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spelling pubmed-77635822020-12-27 Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing? Lovejoy, Leann A. Turner, Clesson E. Wells, Justin M. Shriver, Craig D. Ellsworth, Rachel E. Genes (Basel) Article In 2010, the genetic testing criteria was changed to allow women diagnosed ≤ 60 years old with triple negative breast cancer (TNBC) to undergo germline testing. In the same year, estrogen receptor (ER) positivity was defined as having ≥1% ER staining cells. While tumors with 1–10% ER staining cells and HER2 negative (HER2-) status share characteristics with TNBC, the utility of germline testing in women with ER low positive/HER2- (ERLP/HER2-) tumors is not well-understood. To this end, all patients with hormone receptor positive staining cells ≤ 10% and negative HER2 status were identified. Clinical genetic test results were extracted for patients who underwent testing. Panel testing was performed for those women who had genomic DNA available for research purposes. ERLP/HER2-tumors constituted 2.7% of all tumors in the database. Patients did not differ significantly from those with TNBC by age at diagnosis, ethnicity, family history or tumor size, stage or grade (p > 0.05). Mutation frequency did not differ significantly (p = 0.757) between groups (ERLP/HER2- 16.1%; TNBC 16.7%). Hereditary forms of breast cancer were similar in both ERLP/HER2- and TNBC, thus current guidelines may result in the under testing of women with low ER tumors, resulting in missed opportunities to improve patient management. MDPI 2020-12-08 /pmc/articles/PMC7763582/ /pubmed/33302456 http://dx.doi.org/10.3390/genes11121469 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Lovejoy, Leann A.
Turner, Clesson E.
Wells, Justin M.
Shriver, Craig D.
Ellsworth, Rachel E.
Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?
title Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?
title_full Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?
title_fullStr Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?
title_full_unstemmed Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?
title_short Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?
title_sort heritability of low er staining/her2-breast tumors: are we missing an opportunity for germline testing?
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763582/
https://www.ncbi.nlm.nih.gov/pubmed/33302456
http://dx.doi.org/10.3390/genes11121469
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