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BRCA1HGNC Autosomal dominantPubMed

PRS-BC313 integration for tailored breast cancer prevention in female patients and their healthy relatives

Krakowsky RHE, Drukewitz S, Händel A et al.J Med Genet 2026 · June 2026
Relevance score
7/10
Disease / domain
Personalized breast cancer prevention in HBOC variant carriers (PRS-BC313 + CanRisk model)
Source
PubMed
PMID 42248667
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Variant / mechanism

PRS-BC313 integration in CanRisk model, modification of 10-year risk in LP/P carriers and their negative female relatives

Summary

PRS-BC313 is evaluated in three groups of women from HBOC families: healthy LP/P variant carriers, affected breast cancer LP/P carriers, and LP/P-negative female relatives. Integrated in the CanRisk model, PRS-BC313 clinically significantly modifies 10-year risk in approximately 6–7% of LP/P carriers, inducing surveillance strategy changes (escalation or de-escalation). For negative relatives, PRS provides additional stratification of residual risk in relation to the family context.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Analysis

PRS integration in oncogenetics consultation remains limited in France, but this study provides concrete clinical data on the magnitude of management change induced. The 6–7% of carriers with modified surveillance due to PRS represents a real gain for HBOC consultations, without excessively burdening the workup.

Why this score?

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 7/10

Keywords

PRSBRCA1BRCA2HBOCbreast cancer prevention

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