Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE The second patient had stage III BRAF V600R mutant melanoma that was treated with pembrolizumab and dabrafenib, and also developed a regressed melanocytic nevus. 29152725 2019
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE They were ulcerated (p = 0.0001), they were associated with neurotropism (p = 0.0001), they lacked the BRAF mutation (p = 0.03), and they less often coexisted with a preceding melanocytic nevus (p = 0.0001). 29860247 2018
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE The melanoma transformation rate of an individual nevus is very low despite the detection of oncogenic BRAF or NRAS mutations in 100% of nevi. 29476775 2018
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE A subset of melanomas carrying a B-Raf proto-oncogene, serine/threonine kinase gene (BRAF) V600E mutation, which is the most common targetable mutation in melanoma, arise in association with a melanocytic nevus that is also harboring a BRAF V600E mutation. 29653212 2018
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 Biomarker disease BEFREE On histopathologic analysis, the lesion was determined to be BRAF-negative invasive melanoma arising in association with melanocytic nevus. 29126970 2017
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE Mutations of the β-catenin pathway change the phenotype of a common nevus with BRAF mutation into that of DPN, with increased pigmentation, cell volume and nuclear cyclin D1 levels. 28935960 2017
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE RhoJ deletion in BRAF mutant melanocytes modulates the expression of the pro-apoptotic protein BAD as well as genes involved in cellular metabolism, impairing nevus formation, cellular transformation, and metastasis. 28753606 2017
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE BRAF mutations were more frequent in males, in young patients, and in tumours with a sun-exposed tumour location (bulbar conjunctiva or caruncle), with a mixed or non-pigmented colour, with absence of primary acquired melanosis, and with origin in a nevus. 27192168 2016
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE BRAF mutations were associated with T1 stage (p = 0.007), young age (p = 0.001), male gender (p = 0.02), sun-exposed location (p = 0.01), mixed/non-pigmented tumour colour (p = 0.02) and nevus origin (p = 0.005), but did not associate with prognosis. 27009410 2016
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE The expression of β-catenin, LEF-1, and HPA-1 was assessed and compared in malignant melanoma with that of peritumoral tissue and benign nevus in the patients with negative mutations in BRAF exons 11 and 15 and NRAS exons 1 and 2. 25343173 2015
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE Immunohistochemistry showed that the naevus cells lacked a BRAF V600E mutation. 25380183 2015
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE Of the primary melanomas with an associated naevus (n = 29), 55% were BRAF(V600E) mutant with 100% concordance between the melanoma and associated naevus. 24614711 2014
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 Biomarker disease BEFREE Biopsy findings from 1 unchanged and 1 involuted nevus showed BRAF wild type in the unchanged nevus, BRAFV600E mutation in the involuting nevus, and no malignant histopathologic characteristics in either one. 24695877 2014
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE All neoplastic melanocytes within such a nevus would be expected to carry the BRAF mutation, and thus we evaluated the frequency of cells with BRAF(V600E) mutations within acquired nevi by droplet digital polymerase chain reaction. 23690527 2013
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE Extended BRAF testing for 9 mutations in 225 melanocytic nevus (MN) cases derived from 211 patients from 4 different UVR regions: Lebanon (n = 95; 110 kJ · m(-2) · yr), Syria (n = 23; 93.5 kJ · m(-2) · yr), Kingdom of Saudi Arabia (n = 70; 139 kJ · m(-2) · yr), and Pakistan (n = 37; 118 kJ · m(-2) · yr) was performed. 23051629 2013
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 Biomarker disease BEFREE Benign naevi often harbour BRAF mutations but few reports exist that document the response of naevus cells to BRAF inhibition. 23413975 2013
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE In this series the presence of a BRAF- or NRAS mutation in a nevus was not associated with the risk of malignant transformation. 23861977 2013
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 Biomarker disease BEFREE Human melanocytic nevi (moles) are benign lesions harboring activated oncogenes, including BRAF. 22549727 2012
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 Biomarker disease BEFREE Our results suggest that although nevus propensity is important for the occurrence of both BRAF and NRAS-mutant melanomas, ambient UV irradiance influences risk differently based on the age of exposure. 17507627 2007
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE Tumors with BRAF mutations were also significantly more likely to occur in association with a contiguous nevus (odds ratio 3.49, 95% confidence interval 1.06-11.46), although a contiguous nevus was not found in all melanomas with a BRAF mutation. 16845322 2006
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE GCMN and MCMN did not show oncogenic BRAF mutation and displayed similar features with respect to the amount of nonmelanocytic cells within the naevus and matrix architecture. 16445780 2006
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE Somatic mutations of the BRAF gene are common in melanomas and nevi but the contribution of polymorphisms in this gene to melanoma or nevus susceptibility remains unclear. 16354196 2005
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 Biomarker disease BEFREE No Evidence for BRAF as a melanoma/nevus susceptibility gene. 15824163 2005
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE In 4 individuals both nevi carried a BRAF mutation, whereas in 2 other individuals 1 nevus showed a BRAF mutation and the second nevus had an N-ras mutation. 15009715 2004
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
0.100 GeneticVariation disease BEFREE Among 13 lesions with structural changes, BRAF(V599E) mutations were found in 4 (3 melanomas and 1 nevus). 15373778 2004