Recent enhancements to the genetic risk prediction model BRCAPRO

Emanuele Mazzola, Amanda Blackford, Giovanni Parmigiani, Swati Biswas

Research output: Contribution to journalArticlepeer-review

Abstract

BRCAPRO is a widely used model for genetic risk prediction of breast cancer. It is a function within the R package BayesMendel and is used to calculate the probabilities of being a carrier of a deleterious mutation in one or both of the BRCA genes, as well as the probability of being affected with breast and ovarian cancer within a defined time window. Both predictions are based on information contained in the counselee’s family history of cancer. During the last decade, BRCAPRO has undergone several rounds of successive refinements: the current version is part of release 2.1 of BayesMendel. In this review, we showcase some of the most notable features of the software resulting from these recent changes. We provide examples highlighting each feature, using artificial pedigrees motivated by complex clinical examples. We illustrate how BRCAPRO is a comprehensive software for genetic risk prediction with many useful features that allow users the flexibility to incorporate varying amounts of available information.

Original languageEnglish (US)
Pages (from-to)147-157
Number of pages11
JournalCancer Informatics
Volume14
DOIs
StatePublished - May 10 2015
Externally publishedYes

Keywords

  • BRCA1
  • BRCA2
  • BRCAPRO
  • Breast cancer
  • Mutation carrier
  • Ovarian cancer

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

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