BRAF mutation T1796A in thyroid cancers
First Claim
1. A method for distinguishing malignant papillary from benign thyroid samples, comprising:
- determining presence of a T→
A transversion at nucleotide 1796 of BRAF according to SEQ ID NO;
1 in a thyroid sample of a human, wherein presence of the transversion indicates a malignant papillary neoplasm and absence of the transversion indicates a benign neoplasm or sample.
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Abstract
The BRAF gene has been found to be activated by mutation in human cancers, predominantly in malignant melanoma. We tested 476 primary tumors, including 214 lung, 126 head and neck, 54 thyroid, 27 bladder, 38 cervical, and 17 prostate cancers, for the BRAF T1796A mutation by polymerase chain reaction (PCR)-restriction enzyme analysis of BRAF exon 15. In 24 (69%) of the 35 papillary thyroid carcinomas examined, we found a missense thymine (T)→adenine (A) transversion at nucleotide 1796 in the BRAF gene (T1796A). The T1796A mutation was detected in four lung cancers and in six head and neck cancers but not in bladder, cervical, or prostate cancers. Our data suggest that activating BRAF mutations may be an important event in the development of papillary thyroid cancer. Moreover, BRAF mutation reliably predicts a poor prognosis for papillary thyroid carcinomas.
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Citations
15 Claims
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1. A method for distinguishing malignant papillary from benign thyroid samples, comprising:
determining presence of a T→
A transversion at nucleotide 1796 of BRAF according to SEQ ID NO;
1 in a thyroid sample of a human, wherein presence of the transversion indicates a malignant papillary neoplasm and absence of the transversion indicates a benign neoplasm or sample.- View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11)
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12. A method of detecting a malignant papillary thyroid neoplasm in a human suspected of having a thyroid neoplasm, comprising:
determining presence of a T→
A transversion at nucleotide 1796 of BRAF according to SEQ ID NO;
1 in a blood sample of a human suspected of having a thyroid neoplasm, wherein presence of the transversion indicates a malignant papillary thyroid neoplasm in the human and absence of the transversion indicates a benign thyroid neoplasm or no neoplasm.
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13. A method for detecting a T→
- A transversion mutation at nucleotide 1796 of BRAF according to SEQ ID NO;
1, comprising;amplifying all or part of exon 15 of BRAF from a thyroid test sample to form amplified products, wherein said part comprises at least nucleotides 1792 to 1799 of BRAF; digesting the amplified products with restriction endonuclease TspRI to form digested products; identifying a mutation at nucleotide 1796 if the digested products contain; one fragment fewer than digested products formed when using wild-type BRAF as a template for amplifying and digesting;
orone additional fragment compared to digested products formed when using wild-type BRAF as a template for amplifying or digesting. - View Dependent Claims (14, 15)
- A transversion mutation at nucleotide 1796 of BRAF according to SEQ ID NO;
Specification