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February 5, 2026Frontiers in Oncology0 citationsOpen Access

From genetic risk to early detection - clinical outcomes of a person-centered screening program for women with a high genetic risk of breast cancer

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KZKe ZhouAnhui Medical UniversityCACaroline AbadieInstitut de Cancérologie de l'OuestLCLouise CrivelliCentre Eugène Marquis

Key Points

  • This research examines clinical outcomes in women with high genetic risk of breast cancer enrolled in a screening program.
  • Analyzed outcomes in women enrolled in the PGO program, focusing on BRCA1 and BRCA2 carriers and high-risk individuals without BRCA variants.
  • Matched participants by age at first diagnosis for comparative analysis.
  • Utilized multivariable generalized linear and logistic regression to study associations between tumor characteristics and covariates.
  • Younger women with incident breast cancer were included in the program but were similar in age at diagnosis compared to those with prevalent cases.
  • Tumors were found to be smaller in incident cases, with a 30% lower chance of advanced-stage disease compared to prevalent cases (OR = 0.29).
  • Larger tumor size was independently associated with younger age and a triple-negative phenotype.

Abstract

Background There is little evidence on breast cancer (BC) diagnosed in women with a high genetic risk, before and after their inclusion in a long-term risk management program based on genetic risk assessment. We analyzed clinical outcomes in women enrolled in the Phare Grand Ouest (PGO) program. Methods The PGO includes carriers of the BRCA1 and BRCA2 pathogenic variants (PV) and women at high risk without BRCA PV , enrolled in eight cancer genetics units. The study population included all women with incident or prevalent BC, and 1:1 matching by age at first diagnosis was conducted. Multivariable generalized linear and logistic regression models were used to examine the associations between tumor size and cancer stage and the following covariates: age, tumor subtype, pathogenic variant status, prevalent/incident BC status, and healthcare accessibility indicators. Results Within the matched cohort, those with incident BC were significantly younger at inclusion, but were of comparable age at the time of first diagnosis. They had smaller tumors, and the odds of advanced-stage disease were approximately 30% lower than those observed in women with prevalent BC (OR = 0.29, p 0.01). Younger age and a triple-negative phenotype were independently associated with larger tumor size. No significant effect was shown from healthcare accessibility indicators. Conclusion The PGO’s coordinated, person-centered approach to high genetic risk management was likely associated with earlier-stage BC detection in women with the BRCA PV and women at high risk without BRCA PV . These findings both underscore the enhanced value of person-centered surveillance programs that integrate genetic risk assessment and long-term clinical follow-up, and pave the way for further research in this area.

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Cite This Study

Zhou et al. (2026) studied this question.

synapsesocial.com/papers/698434cff1d9ada3c1fb35bahttps://doi.org/10.3389/fonc.2025.1730423
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