Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Transcriptional control by the TGF-beta/Smad signaling system. 10775259

2000
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR TGF-beta signaling and cancer: structural and functional consequences of mutations in Smads. 9679244

1998
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Inactivation of both alleles of the DPC4/SMAD4 gene in advanced colorectal cancers: identification of seven novel somatic mutations in tumors from Japanese patients. 10479724

1999
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Somatic alterations of the DPC4 gene in human colorectal cancers in vivo. 8898652

1996
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Inactivation of both alleles of the DPC4/SMAD4 gene in advanced colorectal cancers: identification of seven novel somatic mutations in tumors from Japanese patients. 10479724

1999
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Novel mutations in Smad proteins that inhibit signaling by the transforming growth factor beta in mammalian cells. 17994767

2007
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR TGF-beta signaling and cancer: structural and functional consequences of mutations in Smads. 9679244

1998
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Role of Smad4 (DPC4) inactivation in human cancer. 12821112

2003
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Novel mutations in Smad proteins that inhibit signaling by the transforming growth factor beta in mammalian cells. 17994767

2007
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Molecular and functional consequences of Smad4 C-terminal missense mutations in colorectal tumour cells. 14715079

2004
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Role of Smad4 (DPC4) inactivation in human cancer. 12821112

2003
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Somatic alterations of the DPC4 gene in human colorectal cancers in vivo. 8898652

1996
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Molecular and functional consequences of Smad4 C-terminal missense mutations in colorectal tumour cells. 14715079

2004
dbSNP: rs80338963
rs80338963
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs770248150
rs770248150
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. 16618717

2006
dbSNP: rs770248150
rs770248150
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Fluorouracil, leucovorin, and oxaliplatin with and without cetuximab in the first-line treatment of metastatic colorectal cancer. 19114683

2009
dbSNP: rs770248150
rs770248150
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer. 18316791

2008
dbSNP: rs770248150
rs770248150
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Randomized, phase III trial of panitumumab with infusional fluorouracil, leucovorin, and oxaliplatin (FOLFOX4) versus FOLFOX4 alone as first-line treatment in patients with previously untreated metastatic colorectal cancer: the PRIME study. 20921465

2010
dbSNP: rs770248150
rs770248150
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Frequency and type of KRAS mutations in routine diagnostic analysis of metastatic colorectal cancer. 19679400

2009
dbSNP: rs770248150
rs770248150
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Randomized, phase III trial of panitumumab with infusional fluorouracil, leucovorin, and oxaliplatin (FOLFOX4) versus FOLFOX4 alone as first-line treatment in patients with previously untreated metastatic colorectal cancer: the PRIME study. 20921465

2010
dbSNP: rs770248150
rs770248150
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Frequency and type of KRAS mutations in routine diagnostic analysis of metastatic colorectal cancer. 19679400

2009
dbSNP: rs770248150
rs770248150
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Randomized phase II trial of the clinical and biological effects of two dose levels of gefitinib in patients with recurrent colorectal adenocarcinoma. 16361624

2005
dbSNP: rs770248150
rs770248150
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Randomized phase II trial of the clinical and biological effects of two dose levels of gefitinib in patients with recurrent colorectal adenocarcinoma. 16361624

2005
dbSNP: rs770248150
rs770248150
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Efficacy according to biomarker status of cetuximab plus FOLFOX-4 as first-line treatment for metastatic colorectal cancer: the OPUS study. 21228335

2011
dbSNP: rs770248150
rs770248150
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Randomized phase III study of panitumumab with fluorouracil, leucovorin, and irinotecan (FOLFIRI) compared with FOLFIRI alone as second-line treatment in patients with metastatic colorectal cancer. 20921462

2010