Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?
1
Chan Soon-Shiong Institute for Molecular Medicine at Windber, Windber, PA 15963, USA
2
Department of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA
3
Department of Pathology, Walter Reed National Military Medical Center, Bethesda, MD 20814, USA
4
Department of Surgery, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA
5
Murtha Cancer Center/Research Program, Uniformed Services University of the Health Sciences and Walter Reed National Military Medical Center, Bethesda, MD 20814, USA
6
Henry M. Jackson Foundation for the Advancement of Military Medicine, Inc., Windber, PA 15963, USA
*
Author to whom correspondence should be addressed.
Genes 2020, 11(12), 1469; https://doi.org/10.3390/genes11121469
Received: 16 November 2020 / Revised: 3 December 2020 / Accepted: 5 December 2020 / Published: 8 December 2020
(This article belongs to the Special Issue Personalized Diagnostic Tools and Methods to Assess Genetic Predisposition in Human Disease)
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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Keywords:
genetic testing; breast cancer; ER low positive; ASCO/CAP guidelines
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MDPI and ACS Style
Lovejoy, L.A.; Turner, C.E.; Wells, J.M.; Shriver, C.D.; Ellsworth, R.E. Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing? Genes 2020, 11, 1469. https://doi.org/10.3390/genes11121469
AMA Style
Lovejoy LA, Turner CE, Wells JM, Shriver CD, Ellsworth RE. Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing? Genes. 2020; 11(12):1469. https://doi.org/10.3390/genes11121469
Chicago/Turabian StyleLovejoy, Leann A.; Turner, Clesson E.; Wells, Justin M.; Shriver, Craig D.; Ellsworth, Rachel E. 2020. "Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?" Genes 11, no. 12: 1469. https://doi.org/10.3390/genes11121469
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