Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801155
rs1801155
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Studies such as those on APC I1307K and CHEK2 1100delC may suggest the way forward for the identification of 'breast-colon cancer' genes. 14574178

2001

dbSNP: rs1801155
rs1801155
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE The I1307K sequence variant was not found in 67 patients with esophageal cancer, 53 patients with gastric carcinoma (13 MSI-H and 44 MSI-negative), or ten patients with sporadic MSI-H colon cancer. 10445854

1999

dbSNP: rs1801155
rs1801155
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Significantly, of the 12 individuals who possessed the I1307K mutation, none was diagnosed with colorectal cancer and none had a known first-, second-, or third-degree relative diagnosed with colon cancer. 9407954

1997

dbSNP: rs1801155
rs1801155
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE The I1307K polymorphism, therefore, exists in all ethnic Jewish populations: Ashkenazi and non-Ashkenazi, with or without colon cancer. 11551102

2001

dbSNP: rs1801155
rs1801155
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE However, a second study indicated that the I1307K mutation did not contribute greatly to the risk of colon cancer in Ashkenazi breast-ovarian cancer families, and a role of mismatch repair deficiency was suggested. 9869603

1999

dbSNP: rs1801155
rs1801155
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE APC gene loss of heterozygosity, mutations, E1317Q, and I1307K germ-line variants in sporadic colon cancer in Croatia. 15507235

2004

dbSNP: rs1801155
rs1801155
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers compared with noncarriers. 12822869

2003

dbSNP: rs1801155
rs1801155
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE We have shown that the family's phenotype does not result from APC mutations (including the I1307K variant) or from genetic changes in the other known genes that predispose to colon cancer. 10092300

1999

dbSNP: rs1801155
rs1801155
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE The reported association between the APC I1307K mutation and colon cancer risk was supported by a correlation in these data between personal or family history of CRC or polyps and a gene mutation. 10756345

2000

dbSNP: rs1801155
rs1801155
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE The I1307K variant was analyzed in 242 eligible respondents who were selected because they had a personal or family history of colon cancer. 11159880

2001

dbSNP: rs1463038513
rs1463038513
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE The I1307K variant was analyzed in 242 eligible respondents who were selected because they had a personal or family history of colon cancer. 11159880

2001

dbSNP: rs1463038513
rs1463038513
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Significantly, of the 12 individuals who possessed the I1307K mutation, none was diagnosed with colorectal cancer and none had a known first-, second-, or third-degree relative diagnosed with colon cancer. 9407954

1997

dbSNP: rs1463038513
rs1463038513
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE The reported association between the APC I1307K mutation and colon cancer risk was supported by a correlation in these data between personal or family history of CRC or polyps and a gene mutation. 10756345

2000

dbSNP: rs1463038513
rs1463038513
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE APC gene loss of heterozygosity, mutations, E1317Q, and I1307K germ-line variants in sporadic colon cancer in Croatia. 15507235

2004

dbSNP: rs1463038513
rs1463038513
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE The I1307K sequence variant was not found in 67 patients with esophageal cancer, 53 patients with gastric carcinoma (13 MSI-H and 44 MSI-negative), or ten patients with sporadic MSI-H colon cancer. 10445854

1999

dbSNP: rs1463038513
rs1463038513
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers compared with noncarriers. 12822869

2003

dbSNP: rs1463038513
rs1463038513
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE However, a second study indicated that the I1307K mutation did not contribute greatly to the risk of colon cancer in Ashkenazi breast-ovarian cancer families, and a role of mismatch repair deficiency was suggested. 9869603

1999

dbSNP: rs1463038513
rs1463038513
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE The I1307K polymorphism, therefore, exists in all ethnic Jewish populations: Ashkenazi and non-Ashkenazi, with or without colon cancer. 11551102

2001

dbSNP: rs1463038513
rs1463038513
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE We have shown that the family's phenotype does not result from APC mutations (including the I1307K variant) or from genetic changes in the other known genes that predispose to colon cancer. 10092300

1999

dbSNP: rs1463038513
rs1463038513
APC
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Studies such as those on APC I1307K and CHEK2 1100delC may suggest the way forward for the identification of 'breast-colon cancer' genes. 14574178

2001

dbSNP: rs121913377
rs121913377
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. 22281684

2012

dbSNP: rs121913377
rs121913377
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Immunohistochemistry with Anti-BRAF V600E (VE1) Mouse Monoclonal Antibody is a Sensitive Method for Detection of the BRAF V600E Mutation in Colon Cancer: Evaluation of 120 Cases with and without KRAS Mutation and Literature Review. 29127628

2019

dbSNP: rs121913377
rs121913377
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE A colon cancer cell line with RNF43-G659Vfs*41 and BRAF-V600E mutations was sensitive to activation of Wnt/β-catenin signaling. 31811196

2019

dbSNP: rs121913377
rs121913377
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE In conclusion, our findings suggest that targeting ErbB-3 receptors could represent an effective therapeutic approach in BRAF-V600E mutant colon cancer. 26160848

2015

dbSNP: rs121913377
rs121913377
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation BEFREE Herein, we present the case of a patient with bulky V600E-mutant BRAF hepatic flexure colon carcinoma, treated initially with FOLFOX plus bevacizumab neoadjuvant therapy and surgery. 23792567

2013