[Application of polygenic risk score-based comprehensive breast cancer risk assessment in preimplantation embryo
Yinghui Ye1,2,3, Xiaoling Hu4,5, Kai Yan4,5
1Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China. yeyh1999@zju.edu.cn.
Abstract:
A patient, whose family carried a BRCA1: c.5154G>A pathogenic variant, had experienced infertility for three years and sought assisted reproductive technology. We constructed a breast cancer polygenic risk score (PRS)-313 model by integrating genetic data from breast cancer patients and controls in the UK Biobank with Asian population-specific single nucleotide polymorphism weights. Following controlled ovarian stimulation, embryo culture, and biopsy, the embryos were tested for the BRCA1 pathogenic variant. By integrating the breast cancer PRS‑313 score and family history of breast cancer, a comprehensive breast cancer risk assessment was obtained for each embryo. 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 who did not carry the BRCA1: c.5154G>A mutation.
