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BRAF mutation in papillary thyroid carcinoma
Yoram Cohen1, Mingzhao Xing, Elizabeth Mambo
1Division of Head and Neck Cancer Research, Department of Otolaryngology-Head and Neck Surgery, The Johns Hopkins University School of Medicine, Baltimore, MD 21205-2196, USA.
Journal of the National Cancer Institute
|April 17, 2003
Summary
Activating BRAF mutations, specifically T1796A, are prevalent in papillary thyroid cancer. This BRAF gene mutation was also found in lung and head and neck cancers, but not others.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- The BRAF gene is frequently activated by mutation in human cancers.
- Malignant melanoma is a primary cancer type associated with BRAF mutations.
- The T1796A mutation in BRAF is a specific genetic alteration of interest.
Purpose of the Study:
- To investigate the prevalence of the BRAF T1796A mutation across various human cancers.
- To determine the significance of BRAF mutations in the development of papillary thyroid cancer.
Main Methods:
- Screening of 476 primary tumors from lung, head and neck, thyroid, bladder, cervical, and prostate cancers.
- Utilizing polymerase chain reaction (PCR)-restriction enzyme analysis to detect the BRAF T1796A mutation in exon 15.
Main Results:
- The BRAF T1796A mutation was identified in 69% (24/35) of papillary thyroid carcinomas.
- This specific BRAF mutation was also detected in four lung cancers and six head and neck cancers.
- No T1796A BRAF mutations were found in bladder, cervical, or prostate cancer samples.
Conclusions:
- Activating BRAF mutations, including T1796A, appear to be a significant factor in papillary thyroid cancer development.
- The findings highlight the potential role of BRAF mutations in other cancer types like lung and head and neck cancers.