Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 CausalMutation disease CLINVAR
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 Biomarker disease MGD
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 SomaticCausalMutation disease ORPHANET Moreover, there was no overlap between PTC with RET/PTC, BRAF, or RAS mutations, which altogether were present in 66% of cases. 12670889 2003
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE PTC with RET/PTC rearrangement as well as the TPC-1 cell line (the only one harboring RET/PTC rearrangement) did not show the BRAF(V599E) mutation. 12881714 2003
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE Our results suggest that BRAF mutations may play a critical role in the carcinogenesis of papillary carcinoma of the thyroid. 14508525 2003
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE Activating point mutations of the BRAF gene have been recently reported in papillary thyroid carcinomas. 14602780 2003
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE BRAF mutation occurred in PTC at a significantly higher frequency in male patients than in female patients. 12907632 2003
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE Our data suggest that activating BRAF mutations may be an important event in the development of papillary thyroid cancer. 12697856 2003
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE BRAF(V599E) mutations were unique to PTCs, and not found in any of the other types of differentiated follicular neoplasms arising from the same cell type (0 of 46). 12670889 2003
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE Examination of 126 patients with papillary thyroid cancer showed that BRAF mutation correlated significantly with distant metastasis (P = 0.033) and clinical stage (P = 0.049). 12970315 2003
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE The analysis of exons 11 and 15 of BRAF gene revealed the T1796A (V599E) mutation in 32% of cases, and this alteration is significantly associated with PTC tall cell variant. 15273715 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE Overall, BRAF(V599E) mutation was found in 18/56 (32.1%) PTCs. 15272920 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE In FNA samples grouped according to the preoperative cytologic findings (malignant, n = 25; benign, n = 11; and indeterminate, n = 55), a BRAF mutation confirmed the diagnosis of PTC in 72% of carcinomas within the malignant group, and it established the diagnosis of PTC in 16% of carcinomas within the indeterminate group. 15102681 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE Thus, we have demonstrated the usefulness of BRAF mutation detection on FNAB specimens that can help diagnose and identify those PTC patients who may need more aggressive surgical treatment and vigilant clinical monitoring. 15181070 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE The differences in the prevalence of BRAF(T1796A) mutations between childhood and adult cases of PTC may well reflect inherent differences in the clinical features of these cancers between the two age groups. 15356022 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE BRAF mutations typical of papillary thyroid carcinoma are more frequently detected in undifferentiated than in insular and insular-like poorly differentiated carcinomas. 15095090 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE These results indicate that BRAF mutation and RET/PTC rearrangements are molecular markers of PTC that can be applied to FNA in adjunct to traditional cytology. 15472223 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE This study has confirmed the high prevalence of BRAF(V599E) in PTC and has shown that the mutation is almost exclusively seen in PTC with a papillary or mixed follicular-papillary growth pattern, regardless of the cytological features of the neoplastic cells. 14743508 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE A genetico-clinical association analysis showed a statistically significant correlation between BRAF mutation and development of PTCs of the classic papillary histotype (P = 0.038). 15126572 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE We conclude that the frequency of BRAF mutations is significantly lower (P = 0.0008) in post-Chernobyl PTC than in adult sporadic PTC, whereas no significant difference was found between post-Chernobyl and sporadic childhood PTCs. 15356020 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 Biomarker disease BEFREE A high prevalence of activating mutation of the B type Raf kinase (BRAF) gene was recently reported in papillary thyroid cancer (PTC). 15001635 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE Mutations of the BRAF gene in papillary thyroid carcinoma in a Korean population. 15515191 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE Point mutations of the BRAF gene have been recently described with high prevalence in papillary thyroid carcinomas. 15145515 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE Like the previously reported mutually exclusive relationship between BRAF mutation and other Ras pathway components such as RET/PTC rearrangement, a mutually exclusive relationship also exists between BRAF mutation and RASSF1A methylation in thyroid tumorigenesis. 14996725 2004
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.900 GeneticVariation disease BEFREE Moreover, mutations in the BRAF gene have recently been suggested as an alternate predominant cause of colorectal and papillary thyroid cancers without ras mutations. 15186612 2004