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Updated: Jun 15, 2025

Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
The association between BMI and BRAFV600E mutation may differ by primary tumor size
Hyunju Park1, Jung Heo2, Hyun Jin Ryu3
1Department of Internal Medicine, CHA Bundang Medical Center, CHA University School of Medicine, Seongnam, Korea.
Higher body mass index (BMI) is linked to BRAFV600E mutation in thyroid cancer patients with larger tumors (>1 cm). This association was not observed in patients with smaller tumors (≤1 cm), indicating tumor size influences the BMI-mutation link.
Area of Science:
- Oncology
- Genetics
- Epidemiology
Background:
- High body mass index (BMI) is a known risk factor for thyroid carcinoma.
- The relationship between BMI and specific genetic mutations, such as BRAFV600E, in thyroid cancer remains under investigation.
Purpose of the Study:
- To investigate the association between high BMI and the presence of the BRAFV600E mutation in papillary thyroid carcinoma (PTC) patients.
- To determine if tumor size modifies the relationship between BMI and BRAFV600E mutation status.
Main Methods:
- Retrospective analysis of 6438 PTC patients who underwent BRAFV600E mutation testing.
- Logistic regression and restricted cubic spline plots were used to model the association between BMI and BRAFV600E mutation.
- Patients were stratified based on primary tumor size (≤1 cm vs. >1 cm).
Main Results:
- The BRAFV600E mutation was significantly associated with higher BMI in patients with primary tumors >1 cm (OR: 1.034; P = 0.029).
- No significant association between BMI and BRAFV600E mutation was found in patients with primary tumors ≤1 cm (OR: 1.007; P = 0.570).
- Gender was not a significant factor influencing this association in either group.
Conclusions:
- A higher BMI is positively associated with the BRAFV600E mutation in PTC patients with larger primary tumors (>1 cm).
- The association between BMI and BRAFV600E mutation status is dependent on the primary tumor size.
- These findings highlight the complex interplay between obesity, tumor characteristics, and genetic alterations in thyroid cancer.
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