Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE CD70 expression was associated with the presence of a precursor papillary thyroid carcinoma and the presence of BRAF V600E mutations in the anaplastic thyroid cancer lesion. 28383817

2017

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE BRAF(V</span>600E) was more frequent in PTC with concomitant lymphocytic infiltration. 23469895

2013

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE The CREM complex is seen in the normal thyroid cells and BRAF (V600E) thyroid cancer cells (BHP 17-10) but is missing in rearranged in transformation/papillary thyroid carcinoma-1 rearrangement thyroid cancer cells (BHP 2-7). 18202121

2008

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE Incorporating the use of the recently identified BRAF V600E point mutation, a highly specific biomarker for papillary carcinoma of the thyroid, may provide a useful adjunct in assessing the biologic nature of morphologically bland-appearing thyroid inclusions in cervical lymph nodes. 17159251

2006

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE The B-Raf proto-oncogene serine∕threonine kinase (BRAF) V600E (BRAF(V600E)) mutation represents a very specific marker for papillary thyroid carcinoma (PTC), including microcarcinomas (PTMCs). 30534813

2018

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE V600E BRAF gene mutation was demonstrated in 19/43 malignant nodules, in 0/56 benign nodules and in only 1/54 indeterminate nodules that, after histology, turned out to be at a papillary thyroid carcinoma. 25194426

2014

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE The BRAF V600E mutation is the most prevalent genetic aberration in papillary thyroid carcinomas (PTCs), and it is found exclusively in RET/PTC-negative tumors. 18235983

2008

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE Coexisting BRAF V600E and TERT promoter mutations have a robust synergistic impact on the aggressiveness of PTC, including a sharply increased tumor recurrence and patient mortality, while either mutation alone has a modest impact. 26733501

2016

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE We correlated the BRAF V600E mutation with both clinical-pathological features and the degree of neoplastic infiltration to redefine the reliability of the actual system of risk stratification in a large selected group of PTCs smaller than 20 mm. 20631031

2010

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE Papillary thyroid cancer (PTC) is a common endocrine malignancy that frequently harbors the oncogenic T1799A BRAF mutation. 19883729

2010

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE BRAF(V600E) in PTC predicts an increased risk of lymph node metastasis, extra-thyroidal extension and reduced disease-free survival. 27138882

2016

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE We further discuss a case with a single BRAF V600E cytological mutant lacking a postoperative PTC diagnosis and discuss the limitations of BRAF V600E detection using puncture elution fluid. 31529211

2019

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE It is not clear that the BRAF(V600E) mutation is useful for prediction of poor prognosis of PTC. 21803329

2012

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE Assessment of correlations between BRAF V60</span>0E mutations and papillary thyroid cancer progression needs to be performed. 23725167

2013

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE The SUVmax of PTCs was significantly higher if they carried the BRAF V600E mutation (11.3 ± 2.0, compared with 5.7 ± 1.4 for wild type BRAF tumors, Mann-Whitney test, p = 0.016). 26513490

2016

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE The BRAF(V600E) mutation is a useful diagnostic marker for differentiating papillary thyroid carcinoma from benign thyroid nodules, especially in BRAF(V600E) -prevalent populations such as in Korea. 21707687

2011

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE The TERT promoter and the BRAF V600E mutations were identified from PTC samples. 26727717

2016

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE The predominant BRAF V600E mutation has not been detected in benign thyroid tissue so far, so consequently, this assumedly pathognomonic alteration is qualified to improve the preoperative diagnosis of PTC. 20652698

2010

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE A total of 47 intracerebral melanoma metastases and 21 primary papillary thyroid carcinomas were evaluated by direct sequencing of BRAF and by immunohistochemistry using the BRAF V600E mutation-specific antibody clone VE1. 21638088

2011

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE These results suggest that ZNF703 may be of potential use as a new marker for PTC prognosis and therapy that functions independent of BRAF V600E expression. 30361900

2018

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE Association of BRAF V600E Mutation and MicroRNA Expression with Central Lymph Node Metastases in Papillary Thyroid Cancer: A Prospective Study from Four Endocrine Surgery Centers. 26950846

2016

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE The BRAF(V600E) mutation, which accounts for about 60-80% papillary thyroid carcinoma(PTC), has been identifiedas a prognostic marker for risk stratification of PTC patients. 24228637

2013

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE Seven of the 9 indeterminate and suspicious cases with the BRAF V600E mutation had surgical follow-up, and they were all confirmed to be PTC. 30620446

2019

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE BRAF(V600E), the most frequent mutation in adult patients, is present in approximately 50% of PTC. 21049459

2011

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE PTC with BRAF V600E mutation showed higher expression of ATX, LPA1, LPA2, and LPA3 than PTC without BRAF V600E mutation (p < 0.001). 31455351

2019