Breast Cancer-Related Lymphedema and Genetic Predisposition: A Systematic Review of the Literature

J. Visser, M. van Geel, A.J.M. Cornelissen, R.R.W.J. van der Hulst, S.S. Qiu*

*Corresponding author for this work

Research output: Contribution to journal(Systematic) Review article peer-review


Background: Secondary lymphedema is a complication following breast cancer therapy and constitutes the main form of lymphedema in the western world. The purpose of the current study was to provide a clear overview of the genetic predisposition and secondary lymphedema.Methods and Results: A systematic search was performed between February and June 2017 in MEDLINE and Embase. Search terms included Genes, Genetic Predisposition to Disease, Lymphedema, Breast Cancer Lymphedema, Secondary Lymphedema, Breast Cancer-Related Lymphedema, and Humans. Only original articles regarding the possible relationship between genetic variation and the development of secondary lymphedema in humans were included in this review. A total of 459 records were collected. After removal of duplicates, non-topic-related publications,and records not presenting original data, six full-text studies were included. Associations between genetic factors and the development of secondary lymphedema were found for variations in HGF, MET, GJC2, IL1A, IL4, IL6, IL10, IL13, VEGF-C, NFKB2, LCP-2, NRP-2, SYK, VCAM1, FOXC2, VEGFR2, VEGFR3, and RORC.Conclusions: In patients with secondary lymphedema following breast cancer therapy, genetic variations were found in 18 genes. These compelling, although preliminary, findings may suggest a possible role for genetic predisposition in the development of lymphedema following breast cancer therapy. This notion may add to the classical, more mechanistic explanation of secondary lymphedema.
Original languageEnglish
Pages (from-to)288-293
Number of pages6
JournalLymphatic Research and Biology
Issue number3
Publication statusPublished - 1 Jun 2019


  • breast cancer-related lymphedema
  • genes
  • genetic predisposition
  • lymphedema
  • mutations
  • review
  • risk
  • secondary lymphedema
  • RISK

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