Heritability of low er staining/her2-breast tumors: Are we missing an opportunity for germline testing?

Leann A. Lovejoy, Clesson E. Turner, Justin M. Wells, Craig D. Shriver, Rachel E. Ellsworth*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


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.

Original languageEnglish
Article number1469
Pages (from-to)1-8
Number of pages8
Issue number12
StatePublished - Dec 2020
Externally publishedYes


  • ASCO/CAP guidelines
  • Breast cancer
  • ER low positive
  • Genetic testing


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