Polygenic scores in Familial breast cancer cases with and without pathogenic variants and the risk of contralateral breast cancer.

ABSTRACT:

Background

Polygenic risk scores (PRS) are not yet standard in clinical risk assessments for familial breast cancer in Sweden. This study evaluated the distribution and impact of an established PRS (PRS₃₁₃) in women undergoing clinical sequencing for hereditary breast cancer.

Findings

We integrated PRS₃₁₃ into a hereditary breast cancer gene panel used in clinical practice and calculated scores for 262 women. Comparisons were made between women with unilateral and contralateral breast cancer, as well as those with and without pathogenic variants in breast cancer susceptibility genes. PRS₃₁₃ was significantly higher in women with contralateral breast cancer (median + 1.3 SD, n = 33, P = 8e-9) compared to those with unilateral disease (median +

SUBMITTER: Kvist A 

PROVIDER: S-EPMC12418628 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature