Germline protein-truncating variants in breast cancer predisposition genes

There is 1 paper on germline protein-truncating variants in breast cancer predisposition genes in aging research: 1 observational study in people. The newest story, Oct 31, 2026: “Risk scores shift breast screening advice in Asian women”.

Biomarker

1 paper studies it1 finding

1 new paper in 30 daysSee all 1

“and germline protein-truncating variants (PTVs) in breast cancer predisposition genes (OR 1.53; 95% CI 1.03-2.29).”
Polygenic and classical risk integration reshapes breast cancer screening recommendations in 9,761 Asian womenBMC medicine2026doi:10.1186/s12916-026-05334-5
  • Humans1

Associations

1

PRS-missed breast cancer

upin humans1OR 1.53

1 study
  1. PRS-missed breast cancer is associated with germline protein-truncating variants in breast cancer predisposition genes in humans (PRS-missed cases relative to cases meeting screening criteria for both PRS and Gail model) (OR 1.53; 95% CI 1.03-2.29).

    “and germline protein-truncating variants (PTVs) in breast cancer predisposition genes (OR 1.53; 95% CI 1.03-2.29).”

    HumansPRS-missed cases relative to cases meeting screening criteria for both PRS and Gail modelfemales

    Risk scores shift breast screening advice in Asian women

    BMC medicine

Latest

Dec 2025: 0Jan 2026: 0Feb 2026: 0Mar 2026: 0Apr 2026: 0May 2026: 0Jun 2026: 0Jul 2026: 0Aug 2026: 0Sep 2026: 0Oct 2026: 1Nov 2026: 01 paper in 12 months
BMC Medicine

Risk scores shift breast screening advice in Asian women

Among 2,003 healthy women aged 40–49 advised annual mammograms, risk assessment reassigned 38.7% to no screening and 47.9% to screening every two years.Among 2,003 healthy women aged 40–49 advised annual mammograms, risk assessment reassigned 38.7% to no screening and 47.9% to screening every two years.

Cohort · 2,003 peopleBiomarkers