Germline BRCA 1-2 status prediction through ovarian ultrasound images radiogenomics: a hypothesis generating study (PROBE study)

Sci Rep. 2020 Oct 5;10(1):16511. doi: 10.1038/s41598-020-73505-2.

Abstract

Radiogenomics is a specific application of radiomics where imaging features are linked to genomic profiles. We aim to develop a radiogenomics model based on ovarian US images for predicting germline BRCA1/2 gene status in women with healthy ovaries. From January 2013 to December 2017 a total of 255 patients addressed to germline BRCA1/2 testing and pelvic US documenting normal ovaries, were retrospectively included. Feature selection for univariate analysis was carried out via correlation analysis. Multivariable analysis for classification of germline BRCA1/2 status was then carried out via logistic regression, support vector machine, ensemble of decision trees and automated machine learning pipelines. Data were split into a training (75%) and a testing (25%) set. The four strategies obtained a similar performance in terms of accuracy on the testing set (from 0.54 of logistic regression to 0.64 of the auto-machine learning pipeline). Data coming from one of the tested US machine showed generally higher performances, particularly with the auto-machine learning pipeline (testing set specificity 0.87, negative predictive value 0.73, accuracy value 0.72 and 0.79 on training set). The study shows that a radiogenomics model on machine learning techniques is feasible and potentially useful for predicting gBRCA1/2 status in women with healthy ovaries.

Publication types

  • Observational Study

MeSH terms

  • Adult
  • Aged
  • Algorithms
  • BRCA1 Protein / genetics*
  • BRCA2 Protein / genetics*
  • Female
  • Forecasting
  • Germ Cells / metabolism
  • Germ Cells / physiology
  • Humans
  • Machine Learning
  • Middle Aged
  • Ovary / diagnostic imaging*
  • Pilot Projects
  • Retrospective Studies
  • Support Vector Machine
  • Ultrasonography / methods*

Substances

  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • BRCA2 protein, human