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Related Experiment Video

Updated: Feb 19, 2026

Integrating Augmented Reality Tools in Breast Cancer Related Lymphedema Prognostication and Diagnosis
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Identifying Genetic Predisposition and Clinical Risk Factors for Breast Cancer-Related Lymphedema: Toward

Rizky Ifandriani Putri1,2, Noorwati Sutandyo2, Nurjati Chairani Siregar3

  • 1Doctoral Program in Medical Sciences, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.

Lymphatic Research and Biology
|February 17, 2026
PubMed
Summary

Genetic mutations in Gap Junction Protein Alpha-4 (GJA4) and higher body mass index (BMI) are linked to increased breast cancer-related lymphedema (BCRL) risk after surgery. Identifying these factors aids in developing targeted prevention strategies for high-risk patients.

Keywords:
GJA4 mutationaxillary lymph node dissectionbody mass indexbreast cancer-related lymphedemagenetic predisposition

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Area of Science:

  • Oncology
  • Genetics
  • Lymphedema Research

Background:

  • Breast cancer-related lymphedema (BCRL) is a significant chronic complication post-axillary lymph node dissection (ALND).
  • Genetic predisposition's role in BCRL is understudied, particularly in advanced breast cancer cases.
  • This research investigates genetic factors, specifically the Gap Junction Protein Alpha-4 (GJA4) rs705193 mutation, and clinical factors in BCRL development.

Purpose of the Study:

  • To identify genetic and clinical factors associated with BCRL development after ALND.
  • To evaluate the GJA4 rs705193 mutation as a potential biomarker for BCRL risk.
  • To explore the independent and combined effects of genetic mutations and clinical factors on BCRL incidence.

Main Methods:

  • A prospective cohort study of 106 breast cancer patients undergoing ALND.
  • BCRL assessment via indocyanine green (ICG) lymphography over a 12-month follow-up.
  • Analysis of GJA4 rs705193 mutations using Sanger sequencing and multivariate Cox regression for risk factor evaluation.

Main Results:

  • BCRL developed in 52.8% of patients during the follow-up period.
  • Elevated body mass index (BMI) was significantly higher in patients with BCRL (27.3 vs. 25.0 kg/m²).
  • GJA4 mutations (37.7% of patients) and higher BMI were independently associated with increased BCRL risk (HR=1.73 and HR=1.75, respectively).

Conclusions:

  • GJA4 rs705193 mutations and elevated BMI are independent risk factors for BCRL post-ALND.
  • These findings support the development of personalized preventive strategies for high-risk breast cancer patients.
  • Early identification of individuals with GJA4 mutations and high BMI can guide proactive lymphedema management.