Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE Moreover, a 47-year-old female with a recurrent adenocarcinoma and a BRAF V600E mutation exhibited tumor regression after a fourth line therapy with dabrafenib and trametinib, targeting agents against BRAF mutations. 31440061 2019
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE Lung ADCA harbouring BRAF mutations are commonly non-V600E. 30591192 2019
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE BRAF mutation (V600E) was seen in one de novo-type case and two CIA-type cases, but none of these cases had MMR protein loss. 31282116 2019
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE Lung ADCA harbouring BRAF mutations are commonly non-V600E. 30591192 2019
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE Moreover, a 47-year-old female with a recurrent adenocarcinoma and a BRAF V600E mutation exhibited tumor regression after a fourth line therapy with dabrafenib and trametinib, targeting agents against BRAF mutations. 31440061 2019
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE BRAF mutation (V600E) was seen in one de novo-type case and two CIA-type cases, but none of these cases had MMR protein loss. 31282116 2019
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE A case of a primary lung cancer comprised of adenocarcinoma and atypical carcinoid tumor with both components harboring BRAF p.V600E mutation. 29248665 2018
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE Patients (<i>n</i> = 59) from 24 centres were included: 57.6% men; mean age: 64.5 ± 14.5 years; 82% with a performance status of 0-1 at diagnosis; smoking status: 40.3% current, 32.6% former; 93% with adenocarcinoma histology; 75% stage iv; 78% with V600E mutations; 2 with <i>EGFR</i> and 2 with <i>ALK</i> co-mutations. 30464690 2018
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE A case of a primary lung cancer comprised of adenocarcinoma and atypical carcinoid tumor with both components harboring BRAF p.V600E mutation. 29248665 2018
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE Patients (<i>n</i> = 59) from 24 centres were included: 57.6% men; mean age: 64.5 ± 14.5 years; 82% with a performance status of 0-1 at diagnosis; smoking status: 40.3% current, 32.6% former; 93% with adenocarcinoma histology; 75% stage iv; 78% with V600E mutations; 2 with <i>EGFR</i> and 2 with <i>ALK</i> co-mutations. 30464690 2018
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE IHC cytoplasmic expression of BRAF V600E (VE1) protein was found in two of 95 cases: one case of adenocarcinoma NOS (one of three; 33%) and one case of carcinoma ex pleomorphic adenoma (one of five; 20%). 27682157 2017
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE None of the MMRD small bowel adenocarcinomas harbored the BRAF V600E mutation, whereas 60% of MMRD colorectal carcinomas were positive for BRAF V600E with concurrent loss of MLH1 and PMS2 expression. 27258561 2017
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE IHC cytoplasmic expression of BRAF V600E (VE1) protein was found in two of 95 cases: one case of adenocarcinoma NOS (one of three; 33%) and one case of carcinoma ex pleomorphic adenoma (one of five; 20%). 27682157 2017
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE None of the MMRD small bowel adenocarcinomas harbored the BRAF V600E mutation, whereas 60% of MMRD colorectal carcinomas were positive for BRAF V600E with concurrent loss of MLH1 and PMS2 expression. 27258561 2017
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE In addition, MC had a higher MMRd rate (0.892, 95% CI 0.758-0.956), higher BRAF(V600E) mutation rate (0.652, 95% CI 0.143-0.954) and lower KRAS mutation rate (0.171, 95% CI 0.065-0.378) than PDA/UDA and conventional adenocarcinoma. 27001432 2016
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE Analysis indicated one SCC patient (2.3%) exhibited a KRAS p.G13D mutation, and one adenocarcinoma patient (2.3%) exhibited a BRAF p.V600E mutation. 27573925 2016
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE In addition, MC had a higher MMRd rate (0.892, 95% CI 0.758-0.956), higher BRAF(V600E) mutation rate (0.652, 95% CI 0.143-0.954) and lower KRAS mutation rate (0.171, 95% CI 0.065-0.378) than PDA/UDA and conventional adenocarcinoma. 27001432 2016
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE Analysis indicated one SCC patient (2.3%) exhibited a KRAS p.G13D mutation, and one adenocarcinoma patient (2.3%) exhibited a BRAF p.V600E mutation. 27573925 2016
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE From our patients and literature search, we found that BRAF-V600E mutations occur predominantly in female smokers with adenocarcinomas. 26066373 2015
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE Twenty-one BRAF mutations were identified in 951 patients with adenocarcinomas (2.2%; 95% confidence interval [CI], 1.4%-3.4%): 17 (81%; 95% CI, 60%-92%) were BRAF(V600E) mutations, and 4 were non-BRAF(V600E) mutations. 25273224 2015
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE Median age was 63 years (range 42-85); gender was balanced; 14 (40%) were never smokers; all (100%) had adenocarcinoma; 29 (83%) had V600E; 6 (17%) had other mutations; one of them had a concomitant KRAS mutation. 26200454 2015
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE Median age was 63 years (range 42-85); gender was balanced; 14 (40%) were never smokers; all (100%) had adenocarcinoma; 29 (83%) had V600E; 6 (17%) had other mutations; one of them had a concomitant KRAS mutation. 26200454 2015
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE From our patients and literature search, we found that BRAF-V600E mutations occur predominantly in female smokers with adenocarcinomas. 26066373 2015
dbSNP: rs121913377
rs121913377
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE Twenty-one BRAF mutations were identified in 951 patients with adenocarcinomas (2.2%; 95% confidence interval [CI], 1.4%-3.4%): 17 (81%; 95% CI, 60%-92%) were BRAF(V600E) mutations, and 4 were non-BRAF(V600E) mutations. 25273224 2015
dbSNP: rs113488022
rs113488022
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0001418
Disease:
Adenocarcinoma
0.100 GeneticVariation BEFREE Somatic BRAF mutations have been reported in 1-4% of non-small cell lung cancer (NSCLC), primarily in adenocarcinomas with the BRAF (V600E) mutation in about 50% of the cases. 24888229 2014