Evidence map›Paper›PMID 40597213›Full record

ArticleBreast cancer research : BCR2025

Retrospective comparison between breast cancer tissue- and blood-based next-generation sequencing results in detection of PIK3CA, AKT1, and PTEN alterations.

Moumita Chaki, Mona Benrashid, Subir Puri, Smruthy Sivakumar, Ethan S Sokol, Josefa M Briceno, Neil Vasan

Abstract readComparative Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Breast cancer research : BCR, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Exploratory Analysis of PTEN Deficiency by Immunohistochemistry from the Phase III CAPItello-291 Trial.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026
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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

7 authors.

Moumita ChakiBreast Cancer, US Medical Affairs, AstraZeneca, Gaithersburg, MD, USA. moumita.chaki@astrazeneca.com.
Mona BenrashidBreast Cancer, US Medical Affairs, AstraZeneca, Gaithersburg, MD, USA.
Subir PuriBreast Cancer, US Medical Affairs, AstraZeneca, Gaithersburg, MD, USA.
Smruthy SivakumarComputational Discovery, Foundation Medicine Inc, Cambridge, MA, USA.
Ethan S SokolComputational Discovery, Foundation Medicine Inc, Cambridge, MA, USA.
Josefa M BricenoBreast Cancer, US Medical Affairs, AstraZeneca, Gaithersburg, MD, USA.
Neil VasanNYU Langone Health, New York, NY, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBased on the CAPItello-291 phase III trial results, capivasertib in combination with fulvestrant has been approved for patients with hormone receptor-positive/human epidermal growth factor receptor 2-negative advanced breast cancer harboring one or more PIK3CA, AKT1, and/or PTEN alterations. Given the growing interest in circulating tumor DNA (ctDNA) next-generation sequencing (NGS) to detect PIK3CA/AKT1/PTEN alterations, we retrospectively compared blood-based FoundationOne®Liquid CDx versus tumor tissue-based FoundationOne®CDx real-world data from patients with various breast cancer subtypes.

methodsWe utilized a database of patients profiled with FoundationOne®CDx and/or FoundationOne®Liquid CDx during routine clinical care. Analytical comparison of all pathogenic alterations in PIK3CA, AKT1, AKT2, AKT3, and PTEN, including alterations defined in the CAPItello-291 protocol (CAPItello-defined alterations), was performed in paired data from 289 patients with both tissue and liquid biopsies sampled within 90 days of each other.

resultsOverall positive percent agreement (PPA) for short variants across ctDNA tumor fraction (TF) subgroups in paired biopsy samples was: ctDNA TF ≥ 10%: PIK3CA, 93.9%; AKT1, 100%; PTEN, 100%; ctDNA TF 1%-10%: PIK3CA, 96.3%; AKT1, 100%; PTEN, 100%; ctDNA TF < 1%: PIK3CA, 34.7%; AKT1, 50.0%; PTEN, 37.5%. PPA for CAPItello-defined alterations was: ctDNA TF ≥ 10%: 92.5%; ctDNA TF 1%-10%: 97.1%; ctDNA TF < 1%: 33.9%. For PTEN homozygous deletions, PPA was 50.0% in cases with ctDNA TF ≥ 10%. Overall PPA for AKT2 and AKT3 copy number variations (CNVs) was 66.7% and 0%, respectively.

conclusionsBlood-based NGS could offer a minimally invasive option to identify clinically relevant PIK3CA/AKT1/PTEN short variants in cases with ctDNA TF ≥ 1%. Confirmatory tissue-based NGS should be performed when blood-based NGS results are negative, especially when ctDNA TF is < 1% and for enhanced detection of CNVs in general.

Indexed as

Biomarkers, TumorBreast NeoplasmsClass I Phosphatidylinositol 3-KinasesHigh-Throughput Nucleotide SequencingProto-Oncogene Proteins c-aktPTEN PhosphohydrolaseAdultAgedCirculating Tumor DNAFemaleHumansMiddle AgedMutationRetrospective StudiesAKT1 protein, humanBiomarkers, TumorCirculating Tumor DNAClass I Phosphatidylinositol 3-KinasesPIK3CA protein, humanProto-Oncogene Proteins c-aktPTEN PhosphohydrolasePTEN protein, humanAKT inhibitorBreast cancerCapivasertibCirculating tumor DNAHR-positive/HER2-negativeNext-generation sequencingTargeted therapy

Identifiers

PMID40597213
PMCPMC12217283

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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 OpenQuestion graph.