Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		G 0.700 CausalMutation CLINVAR BRAF and RAS mutations in human lung cancer and melanoma. 12460918

2002
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		G 0.700 CausalMutation CLINVAR Missense mutations of the BRAF gene in human lung adenocarcinoma. 12460919

2002
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0027651
Disease: Neoplasms
Neoplasms 		G 0.730 GeneticVariation CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987

2004
dbSNP: rs121913355
rs121913355
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		T 0.800 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs121913355
rs121913355
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		T 0.800 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Rapid identification of somatic mutations in colorectal and breast cancer tissues using mismatch repair detection (MRD). 18186519

2008
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Rapid identification of somatic mutations in colorectal and breast cancer tissues using mismatch repair detection (MRD). 18186519

2008
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Rapid identification of somatic mutations in colorectal and breast cancer tissues using mismatch repair detection (MRD). 18186519

2008
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		T 0.710 GeneticVariation CLINVAR These G469E- and D594G-mutated melanomas were found to exhibit constitutive levels of phospho-extracellular signal-regulated kinase (pERK) and low levels of phospho-mitogen-activated protein kinase/ERK kinase (pMEK) and were resistant to MEK inhibition. 18794803

2009
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		G 0.700 CausalMutation CLINVAR Genetic predictors of MEK dependence in non-small cell lung cancer. 19010912

2008
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		G 0.700 CausalMutation CLINVAR Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines. 19238210

2009
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Clinical biomarkers in oncology: focus on colorectal cancer. 19537845

2009
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Clinical biomarkers in oncology: focus on colorectal cancer. 19537845

2009
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Clinical biomarkers in oncology: focus on colorectal cancer. 19537845

2009
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery. 20350999

2010
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery. 20350999

2010
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery. 20350999

2010
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Prognostic vs predictive molecular biomarkers in colorectal cancer: is KRAS and BRAF wild type status required for anti-EGFR therapy? 21129611

2010
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Prognostic vs predictive molecular biomarkers in colorectal cancer: is KRAS and BRAF wild type status required for anti-EGFR therapy? 21129611

2010
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Prognostic vs predictive molecular biomarkers in colorectal cancer: is KRAS and BRAF wild type status required for anti-EGFR therapy? 21129611

2010
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		G 0.700 CausalMutation CLINVAR Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations. 21483012

2011
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR The road to resistance: EGFR mutation and cetuximab. 22310681

2012
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR The road to resistance: EGFR mutation and cetuximab. 22310681

2012
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR The road to resistance: EGFR mutation and cetuximab. 22310681

2012
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		G 0.700 CausalMutation CLINVAR Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib. 22649091

2012