[Polygenic risk score-based comprehensive assessment model for breast cancer risk and its application for preimplantation embryo selection in a BRCA1 mutation carrier].

Authors

Yinghui Ye, Xiaoling Hu, Kai Yan, Jialing Yu, Yulin Chen, Yangyun Zou, Qiong Luo, Dan Zhang, Yimin Zhu, Hefeng Huang

Published in

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences. Pages 1-9. May 31, 2026. Epub May 31, 2026.

Abstract

Using genetic data from 18,483 female breast cancer cases and 246,222 controls in the UK Biobank, and incorporating Asian ancestry-specific single nucleotide polymorphism weights, we constructed a breast cancer polygenic risk score (PRS) 313 model. Subsequently, a Cox proportional hazards regression model was developed to integrate the PRS313 model, pathogenic variants in breast cancer susceptibility genes (BRCA1 and BRCA2), and a first-degree family history of breast cancer, enabling a comprehensive risk assessment for breast cancer. In a patient from a BRCA1-positive breast cancer family who required assisted reproductive technology, we assessed each embryo for BRCA1 pathogenic variants, breast cancer PRS313 score, and family history information to obtain a comprehensive breast cancer risk estimate. Based on these assessments, together with chromosomal testing results and embryonic development status, the most suitable embryo was selected for transfer. The patient achieved a successful pregnancy and delivered a live-born infant negative for the BRCA1 variant.

PMID:
42219996
Bibliographic data and abstract were imported from PubMed on 01 Jun 2026.

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