Combination of phenotype and polygenic risk score in breast cancer risk evaluation in the Spanish population: a case -control study.

ABSTRACT:

Background

In recent years, the identification of genetic and phenotypic biomarkers of cancer for prevention, early diagnosis and patient stratification has been a main objective of research in the field. Different multivariable models that use biomarkers have been proposed for the evaluation of individual risk of developing breast cancer.

Methods

This is a case control study based on a population-based cohort. We describe and evaluate a multivariable model that incorporates 92 Single-nucleotide polymorphisms (SNPs) (Supplementary Table S1) and five different phenotypic variables and which was employed in a Spanish population of 642 healthy women and 455 breast cancer patients.

Results

Our model allowed us to stratify two groups: high and low risk of developing breast

SUBMITTER: Trivino JC 

PROVIDER: S-EPMC7654173 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature