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Polygenic Risk Score Predicts Invasive Breast Cancer After In‑Situ Lesions

The findings suggest a genetic risk score could guide more individualized care after DCIS or LCIS.

Overview

  • Researchers at King’s College London report that the 313‑SNP PRS313 stratified future invasive breast cancer risk in women previously diagnosed with ductal or lobular carcinoma in situ.
  • Among DCIS patients, those in the highest PRS313 quartile had roughly double the risk of contralateral breast cancer compared with those in the lowest quartile (about 2.03-fold).
  • In LCIS, higher PRS313 scores were linked to greater ipsilateral risk, with an estimated 2.16-fold increase associated with rising scores and stronger associations in those with a family history.
  • For LCIS patients with a family history of breast cancer, risk rose to more than threefold, increasing to fourfold when cases treated with mastectomy and radiotherapy were excluded.
  • The retrospective analysis of the ICICLE and GLACIER cohorts (2,169 DCIS; 185 LCIS; median 11-year follow-up), published in Cancer Epidemiology, Biomarkers & Prevention, highlights potential to tailor surveillance and preventive endocrine therapy but requires external validation given the small LCIS sample and PRS313’s design for invasive disease.