Current Approaches to Germline Cancer Genetic Testing

Annu Rev Med. 2020 Jan 27;71:85-102. doi: 10.1146/annurev-med-052318-101009. Epub 2019 Nov 22.


The prevalence of genetic predisposition to cancer is greater than initially appreciated, yet most affected individuals remain undiagnosed. Deleterious germline variants in cancer predisposition genes are implicated in 1 in 10 cases of advanced cancer. Next-generation sequencing technologies have made germline and tumor DNA sequencing more accessible and less expensive. Expanded access to clinical genetic testing will improve identification of individuals with genetic predisposition to cancer and provide opportunities to effectively reduce morbidity through precision cancer therapies and surveillance. Cross-disciplinary clinical education in genomic medicine is needed to translate advances in genomic medicine into improved health outcomes.

Keywords: Lynch syndrome; cancer genes; genetic counseling; genetic predisposition; genetic tests; germline variants; hereditary breast and ovarian cancer syndrome; hereditary cancer syndromes.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Colorectal Neoplasms / epidemiology
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology
  • Female
  • Genetic Predisposition to Disease / epidemiology*
  • Genetic Testing / methods*
  • Germ-Line Mutation / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Incidence
  • Male
  • National Institutes of Health (U.S.)
  • Ovarian Neoplasms / epidemiology
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / pathology
  • Prognosis
  • Risk Assessment
  • Survival Analysis
  • United States