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Abstract 15259: Breast Cancer and Heritable Pah Due to Bmpr2 Mutation: An Unexpected Discovery

2020· article· en· W3162383909 on OpenAlexaff
Victoria Toro, Valérie Nadeau, Pierre Hélie, Junichi Omura, Yann Grobs, Sandra Martineau, Roxane Paulin, François Potus, Olivier Boucherat, Steeve Provencher, Sébastien Bonnet

Bibliographic record

VenueCirculation · 2020
Typearticle
Languageen
FieldMedicine
TopicPulmonary Hypertension Research and Treatments
Canadian institutionsQueen's UniversityMontreal Heart InstituteUniversité LavalUniversité de MontréalCegep de Saint HyacintheInstitut universitaire de cardiologie et de pneumologie de Québec
Fundersnot available
KeywordsMedicineBMPR2Internal medicineMutationDMBABreast cancerCancer researchEndocrinologyCancerDownregulation and upregulationPathologyCarcinogenesisBiologyGeneticsGene

Abstract

fetched live from OpenAlex

Introduction: BMPR2 mutation is reported in 80% of familial PAH and 20% of idiopathic cases. Recently, a rat model of hereditary Pulmonary Arterial Hypertension with a BMPR2 loss-of-function mutation has been generated. Similarly to human, only around 20% of the rats spontaneously developed mild PAH. Unexpectedly, we observed that 20% (95%CI:12-28) of the 82 Bmpr2+/Δ71 rats (93% of females) versus 4% (95%CI:0-9)of the 84 age-matched wild type littermates spontaneously developed mammary masses requiring euthanasia. Interestingly, rats with tumor had elevated PA and clearly exhibit PAH signs. Hypothesis: We hypothesized that mammary tumor exacerbates the penetrance of PAH in the BMPR2 mutated female rats. Methods/Results: BMPR2 mutated and wild-type female young rats were treated with the breast cancer inducer 7, 12- diméthylbenz(a)anthracene (DMBA) or Vehicle. DMBA causes on average more tumors development in BMPR2 mutated rats versus WT rats (6,2 vs. 4) P=0,0275. Compare to both vehicle-treated and DMBA rats (without tumor) BMPR2 mutated rats with DMBA-induced tumors had a significant increase in mean PA pressure (p<0,0001); total pulmonary resistance (p<0,0001) and a significant decrease in cardiac output (P=0,0293). Histologically, these changes were associated with an increase of pulmonary artery remodelling assessed by immunofluorescence. Mechanistically, development of PAH in the BMPR2 mutated rats with tumor was associated with a significant upregulation of BRD4 (western blot) (p=0,0149); IL-1β (P=0,0052), BRD3 (P=0,0791) and BIRC5 (P=0,0166) mRNA expression levels. Co-culture experiments with breast cancer cells and PASMC from both WT and BMPR2 mutated rats are ongoing to identify whether cancer cells are realising factors responsible for BRD4 activation and thus PASMC proliferation and resistance to apoptosis. Conclusions: We demonstrated for the first time that breast cancer exacerbates PAH development in BMPR2 mutated rats. Increased BRDs driven pro-inflammatory signalling is associated with PAH development in BMPR2 mutated rats. We are currently exploring whether BMPR2 mutated patients are more prone to breast cancer development or not and whether PAH development occurs more frequently in breast cancer patients.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.010

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.000
Science and technology studies0.0000.001
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0030.001

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.035
GPT teacher head0.304
Teacher spread0.270 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designCase report
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations0
Published2020
Admission routes1
Has abstractyes

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