Evidence map›Paper›PMID 41555446›Full record

ArticleBreast cancer research : BCR2026

Characterization of ESR1 alterations in patients with breast and gynecologic cancers.

Gargi D Basu, Paige E Innis, Angela K Deem, Arthur Starodynov, Sameer S Udhane, Szabolcs Szelinger, Min Wang, Janine R LoBello, Frederick L Baehner, Jean-Paul De La O and 1 more

Abstract read
In one paragraph

Article in Breast cancer research : BCR, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. ESR1 fusions in breast cancer: functions, mechanisms and therapeutic opportunities.Translational breast cancer research : a journal focusing on translational research in breast cancer · 2026
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Gargi D BasuExact Sciences Corporation, 5505 Endeavor Ln, Madison, WI, 53719, USA.
Paige E InnisExact Sciences Corporation, 5505 Endeavor Ln, Madison, WI, 53719, USA.
Angela K DeemExact Sciences Corporation, 5505 Endeavor Ln, Madison, WI, 53719, USA.
Arthur StarodynovExact Sciences Corporation, 5505 Endeavor Ln, Madison, WI, 53719, USA.
Sameer S UdhaneExact Sciences Corporation, 5505 Endeavor Ln, Madison, WI, 53719, USA.
Szabolcs SzelingerExact Sciences Corporation, 5505 Endeavor Ln, Madison, WI, 53719, USA.
Min WangExact Sciences Corporation, 5505 Endeavor Ln, Madison, WI, 53719, USA.
Janine R LoBelloExact Sciences Corporation, 5505 Endeavor Ln, Madison, WI, 53719, USA.
Frederick L BaehnerExact Sciences Corporation, 5505 Endeavor Ln, Madison, WI, 53719, USA.
Jean-Paul De La OExact Sciences Corporation, 5505 Endeavor Ln, Madison, WI, 53719, USA.
Joyce O'ShaughnessyBaylor University Medical Center, Texas Oncology, Sarah Cannon Research Institute, 3410 Worth Street, Suite 400, Dallas, TX, 75246, USA. joyce.oshaughnessy@usoncology.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundESR1 alterations present a common mechanism of resistance to endocrine therapy (ET) in hormonally driven tumors. The clinical significance of these alterations continues to evolve with newly approved targeted therapies and a range of ongoing investigational trials.

methodsA retrospective study of 2574 breast cancer (BC) and 1110 gynecologic cancer samples that underwent whole exome and whole transcriptome profiling was conducted to assess the distribution of ESR1 and associated co-alterations in local (primary breast or regional lymph node) versus metastatic BC samples and in the major BC subtypes. Prior treatment history was unknown.

resultsESR1 alterations were present in 6.2% (n = 159/2574) of BC samples and 3.4% (n = 38/1110) of gynecologic cancer samples. In HR + /HER2- BC, ESR1 alterations overall and ESR1 missense mutations were more frequent in samples from metastatic compared to local/regional sites (overall: n = 86/321 (26.8%) and n = 53/1427 (3.7%), respectively (P < 0.001); missense: n = 72/321 (22.4%) and n = 20/1427 (1.4%), respectively (P < 0.001)). Whole transcriptome sequencing detected ESR1 fusion genes in 2.1% (n = 55/2574) of BC samples and in 1.9% (n = 21/1110) of gynecologic cancer samples, and CCDC170 was the most common fusion partner in both cancer types. In HR + /HER2- BC, ESR1 fusions were more common in metastatic samples compared to local/regional (n = 17/321 (5.3%) and n = 29/1427 (2.0%), respectively; P < 0.001). Evaluation of 21 therapeutically actionable biomarkers identified co-alterations enriched in ESR1-altered HR + /HER2- BC, including FGF3/4/19 and CCND1 amplifications. No significant co-alterations were found in gynecologic cancer samples.

conclusionsESR1 alterations were most frequent in HR + /HER2- BC samples and missense mutations were more frequent in metastatic samples, consistent with their role in ET resistance and disease progression. ESR1 alterations co-occurred with therapeutically relevant alterations in other genes that may help inform clinical decision-making. Gynecologic tumors harbored ESR1 alterations that have prognostic and potentially therapeutic relevance.

Indexed as

Breast NeoplasmsEstrogen Receptor alphaGenital Neoplasms, FemaleAdultAgedBiomarkers, TumorExome SequencingFemaleGene Expression ProfilingGene Expression Regulation, NeoplasticHumansMiddle AgedMutationMutation, MissenseRetrospective StudiesBiomarkers, TumorESR1 protein, humanEstrogen Receptor alphaBreast cancerComprehensive genomic profilingEstrogen receptorGynecologic cancersResistance

Identifiers

PMID41555446
PMCPMC12879367

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.