Systematic Reviews

Pathogenic variants (mutations) inherited at birth (Germline) in certain genes increase the risk of certain cancers.

Cancer susceptibility genes can be better understood using a framework of

  • spectrum of diseases caused
  • penetrance for each disease
  • the predominant subtype of each disease
  • age of onset

When managing a patient with a pathogenic variant in a given gene, the spectrum of disease suggests which diseases to address in our management plan and suggests what family history might be indicative of this gene. The penetrance suggests how aggressive to be in management. The age of onset tells us when to institute management. In the past, syndromes have been defined that often predated the understanding of the underlying gene. Syndromes can be useful to help us remember certain family characteristics of certain genes.

Numerous scientific articles exist in the medical literature for each gene-cancer association and need to be identified and organized.   Using humans enhanced by Artificial Intelligence (AI) /Natural Language Processing (NLP), our systematic reviews organize all existing articles for research and medical care

This data set is used to:

Publications to date: 

  • Penetrance of male breast cancer susceptibility genes: a systematic review.  Chamseddine RS, Wang C, Yin K, Wang J, Singh P, Zhou J, Robson ME, Braun D, Hughes KS.
  • Breast Cancer Res Treat. 2022 Jan;191(1):31-38. doi: 10.1007/s10549-021-06413-2. Epub 2021 Oct 13.PMID: 34642874 Review. 
  • Disease Spectrum of Breast Cancer Susceptibility Genes.  Wang J, Singh P, Yin K, Zhou J, Bao Y, Wu M, Pathak K, McKinley SK, Braun D, Hughes KS.Front Oncol. 2021 Apr 20;11:663419. doi: 10.3389/fonc.2021.663419. eCollection 2021.PMID: 33959510 Free PMC article.
  • Disease spectrum of gastric cancer susceptibility genes.  McKinley SK, Singh P, Yin K, Wang J, Zhou J, Bao Y, Wu M, Pathak K, Mullen JT, Braun D, Hughes KS.Med Oncol. 2021 Mar 24;38(5):46. doi: 10.1007/s12032-021-01495-w.PMID: 33760988