Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3789243
rs3789243
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 GeneticVariation BEFREE The MDR1 intron 3 (G-rs3789243-A) polymorphism was not associated with a risk of colorectal adenomas or carcinomas in the present Norwegian study group. 19250544

2009

dbSNP: rs6842
rs6842
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 GeneticVariation BEFREE Sequencing of the anterior gradient-2 gene in fibrolamellar carcinomas identified several polymorphisms (refSNP Ids: rs6842, rs8071, rs1051905) but no mutations. 18973922

2009

dbSNP: rs121434592
rs121434592
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 GeneticVariation BEFREE Likewise, 3 of 78 (3.8%) invasive carcinomas showed an AKT1 E17K mutation, and this mutation was identified in matching in situ carcinoma in both informative cases. 19418217

2010

dbSNP: rs1801155
rs1801155
APC
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.020 GeneticVariation BEFREE The characterization of somatic APC mutations in colonic adenomas and carcinomas in Ashkenazi Jews with the APC I1307K variant using linkage disequilibrium. 12533826

2003

dbSNP: rs1801155
rs1801155
APC
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.020 GeneticVariation BEFREE The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcinomas in Caucasians, but data are lacking in Asians. 15266213

2005

dbSNP: rs1463038513
rs1463038513
APC
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.020 GeneticVariation BEFREE The characterization of somatic APC mutations in colonic adenomas and carcinomas in Ashkenazi Jews with the APC I1307K variant using linkage disequilibrium. 12533826

2003

dbSNP: rs1463038513
rs1463038513
APC
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.020 GeneticVariation BEFREE The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcinomas in Caucasians, but data are lacking in Asians. 15266213

2005

dbSNP: rs876659156
rs876659156
APC
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 GeneticVariation BEFREE One of 32 (3%) small cell lung carcinomas contained a GAA-->AAA (Glu-->Lys) mutation at codon 1284. 15072829

2004

dbSNP: rs369999291
rs369999291
APC
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 GeneticVariation BEFREE Deletion of Ink4a/Arf in K-ras(G12D) expressing mice prevents senescence and leads to invasive, metastasizing carcinomas with morphological and molecular alterations comparable to human KRAS mutated serrated tumors. 20708155

2010

dbSNP: rs1801166
rs1801166
APC
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 GeneticVariation BEFREE The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcinomas in Caucasians, but data are lacking in Asians. 15266213

2005

dbSNP: rs121913377
rs121913377
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation BEFREE The B-Raf gene was mutated with a T-->A transversion at nucleotide 1799 (V600E) in 8 of 10 differentiated PTC, and in 4 of 7 aggressive carcinomas. 16676402

2006

dbSNP: rs121913377
rs121913377
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation BEFREE The vast majority of the BRAF V600E mutations were found in cerebral metastases of malignant melanomas and carcinomas (29/135, 22 %), with false-positive staining found in four breast cancer cases and two non-small-cell lung carcinoma (NSCLC) samples. 27350555

2016

dbSNP: rs121913377
rs121913377
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation BEFREE Congruently, 0/10 oncoAd and 0/20 oncoFTC described in the literature so far carried BRAF V600E mutations. 18235983

2008

dbSNP: rs121913377
rs121913377
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation BEFREE To determine the association of DNA mismatch repair (MMR) status and somatic mutation in the B-Raf proto-oncogene (c.1799T>A [V600E]; BRAFV600E) or exon 2 of the KRAS proto-oncogene (KRAS) in the primary tumor with SAR in patients with stage III colon carcinomas treated with adjuvant chemotherapy. 28006055

2017

dbSNP: rs121913377
rs121913377
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation BEFREE The missense point mutation BRAF(V600E) was identified in 42% (13/31 cases) of papillary carcinomas and 33% (5/15 cases) of undifferentiated carcinomas but not in normal thyroid tissues, nodular hyperplasia, follicular adenomas, or follicular carcinomas. 17714762

2007

dbSNP: rs121913377
rs121913377
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation BEFREE The BRAF V600E mutation was detected in 36.3% of SCa and 26.7% of TSA patients, but it was not detected in TA and Ca patients; MSI-H was noticed in 23% of SCa, 33.3% of TSA, 5.3% of Ca and 0% of TA patients, respectively (P<0.05). 21615873

2011

dbSNP: rs121913377
rs121913377
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation BEFREE The high frequency of methylation and BRAF V600E mutation suggests that many signet ring cell carcinomas may be related to the serrated pathway of carcinogenesis. 22522845

2012

dbSNP: rs121913377
rs121913377
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation BEFREE We found BRAF V600E mutations in 13% (4/31) of serous LMP and 5% (3/62) of invasive serous carcinomas. 22820660

2013

dbSNP: rs121913377
rs121913377
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation BEFREE The prevalence of the BRAF(V599E) mutation in PTC is the highest reported to date in human carcinomas, being only exceeded by melanoma. 12881714

2003

dbSNP: rs121913377
rs121913377
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation BEFREE BRAF V599E mutation in histologic samples was found in 5 (24%) of 21 SBTs, 1 (33%) of 3 MPSCs, 1 (17%) of 6 endometrioid carcinomas, but not detected in 42 conventional serous carcinomas, 12 mucinous borderline tumors, 10 mucinous, and 10 clear-cell carcinomas. 17309670

2007

dbSNP: rs121913377
rs121913377
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation BEFREE Although VE1 antibody can be useful in the screening of colon carcinomas for BRAF V600E-mutant proteins, molecular genetic confirmation is always necessary for mutation diagnosis. 24832158

2014

dbSNP: rs121913377
rs121913377
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation BEFREE LLS carcinomas were diagnosed at a mean age of 65 years (vs. 44 years in LS, p < 0.001), had a proximal to distal ratio of 1:1, and all were BRAF V600E-negative. 30575961

2019

dbSNP: rs121913377
rs121913377
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation BEFREE BRAF inhibitors showed activity in BRAF V600E mutated cholangiocarcinomas and pancreatic carcinomas in non-first line settings. 31221175

2019

dbSNP: rs121913377
rs121913377
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation BEFREE Genotype-dependent cooperation of ionizing radiation with BRAF inhibition in BRAF V600E-mutated carcinomas. 23354848

2013

dbSNP: rs121913377
rs121913377
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation BEFREE BRAF mutations were detected exclusively in papillary carcinomas (40 in 76 cases: 53%), and were exclusively V599E, a mutation frequently observed in other carcinomas. 14508525

2003