rs121913364, BRAF

N. diseases: 34
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. 17060676 2006
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.800 GeneticVariation UNIPROT Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy? 23429431 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Guidelines for biomarker testing in colorectal carcinoma (CRC): a national consensus of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM). 22855150 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Evidence That GRIN2A Mutations in Melanoma Correlate with Decreased Survival. 24455489 2014
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.800 GeneticVariation UNIPROT Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.800 GeneticVariation UNIPROT Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers. 19042984 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group. 24996433 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Updated guidelines for biomarker testing in colorectal carcinoma: a national consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology. 25373533 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 23263490 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. 22138009 2011
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update. 23852704 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Multitarget stool DNA testing for colorectal-cancer screening. 25006736 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. 12198537 2002
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.800 GeneticVariation UNIPROT Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Protein arginine methyltransferase 5 regulates ERK1/2 signal transduction amplitude and cell fate through CRAF. 21917714 2011
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation UNIPROT ESMO Consensus Guidelines for management of patients with colon and rectal cancer. a personalized approach to clinical decision making. 23012255 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE The patients with BRAF K601E- and T599_V600insAGA-mutated tumors had similar clinicopathologic features to those with BRAF V600E-mutated tumors. 29037218 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE We confirmed the presence of RAS mutations and BRAF K601E mutation in benign, borderline, and malignant follicular-patterned tumors. 29723601 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE Cytology was consistent with "follicular neoplasia" (negative for galectin-3 immunostaining); molecular analysis on the cytology sample detected a K601E mutation in the exon 15 of the BRAF gene. 22136270 2011
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE Twenty-three percent of patients with V600E- and 43% of patients with K601E-mutant melanomas presented with nodal disease at diagnosis compared to just 14% of patients with BRAF wild-type tumors (P = 0.001 and 0.006, respectively). 26643848 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE This technique, together with an earlier described real-time test specific for V600E and K601E will be useful for research and molecular diagnostic laboratories involved in the study of BRAF-related neoplasia. 20186005 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE The tumor was found to be BRAF mutation positive (K601E). 20718682 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE All cases positive for the BRAF(K601E) mutation were reviewed to confirm histopathologic diagnosis and establish tumor variant, and clinical charts were reviewed to obtain clinical characteristics and follow-up information. 26422023 2016