| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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0.070 | GeneticVariation | BEFREE | We describe a case of papillary thyroid carcinoma with fibromatosis/fasciitis-like stroma (PTC-FLS) that contained the rare BRAF c.1799_1801delTGA (p.V600_K601delinsE) mutation, which has not previously been reported in this tumour, as well as the CTNNB1 c.133T>C (p.S45P) mutation. | 31327063 | 2019 |
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0.070 | GeneticVariation | BEFREE | Unlike BRAF(V600E), the most common mutation, K601E is strongly associated with follicular-patterned cancer, particularly with the encapsulated follicular variant of PTC, and may also be found in follicular thyroid carcinomas. | 26422023 | 2016 |
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|
0.070 | GeneticVariation | BEFREE | Unlike the most common BRAF mutation seen in PTC carcinoma (BRAF(V600E)), this patient's mutation was a BRAF(K601E) mutation that previously has been associated with some cases of the follicular variant of PTC. | 22136270 | 2011 |
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0.070 | GeneticVariation | BEFREE | Surprisingly, we did not identify the previously reported VK600-1E or K601E mutations in our PTC specimens. | 17824790 | 2007 |
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0.070 | GeneticVariation | BEFREE | Moreover, there is a close association between the type of mutation and the PTC histotype: BRAF(V600E) is associated with conventional PTC and with histological variants of PTC displaying a prominent papillary growth pattern, whereas BRAF(K601E) is associated with the follicular variant of PTC. | 16021577 | 2005 |
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0.070 | GeneticVariation | BEFREE | The V599E mutation is highly prevalent in PTC with a papillary or mixed papillary follicular growth pattern, and the K600E mutation is apparently restricted to the follicular variant of PTC. | 15095090 | 2004 |
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0.070 | GeneticVariation | BEFREE | A distinct mutation in BRAF (codon K600E) was detected in three cases of the follicular variant of PTC. | 14743508 | 2004 |