DisGeNET - a database of gene-disease associations

Squamous cell carcinoma of the head and neck, C1168401

Gene: EGFR ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057519887

EGFR

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519887

EGFR

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs149840192

EGFR

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs149840192

EGFR

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs769696078

EGFR

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs121913433

EGFR

0.700

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs121913433

EGFR

0.700

GeneticVariation

CLINVAR

Epidermal growth factor receptor (EGFR) and squamous cell carcinoma of the skin: molecular bases for EGFR-targeted therapy.

21531084

2011

dbSNP:

rs121913433

EGFR

0.700

GeneticVariation

CLINVAR

Investigational EGFR-targeted therapy in head and neck squamous cell carcinoma.

20415598

2010

dbSNP:

rs2227983

EGFR

0.020

GeneticVariation

BEFREE

This pilot study provides preliminary evidence supporting genetic variation of EGFR (rs2227983), KRAS (rs61764370) and FCGR2A (rs180127) as useful biomarkers for predicting reduced skin toxicity in HNSCC patients treated with a cetuximab-based therapy.

27938998

2016

dbSNP:

rs2227983

EGFR

0.020

GeneticVariation

BEFREE

The EGFR-R497K polymorphism is a potential predictor for overall survival in HNSCC patients treated with cetuximab based therapy in the palliative setting.

22287728

2012

dbSNP:

rs121434569

EGFR ; EGFR-AS1

0.010

GeneticVariation

BEFREE

Higher frequency of EGFR-TK domain mutations together with the presence of the T790M mutation suggests that identification of these mutations might streamline the therapy and provide a better prognosis in HNSCC cases.

28352186

2017

dbSNP:

rs1256743514

EGFR

0.010

GeneticVariation

BEFREE

The mutational analysis in the eight HNSCC cell lines revealed an <i>EGFR</i> mutation (p.H773Y) and gene amplification in the HN13 cells.

28881811

2017

dbSNP:

rs1389500636

EGFR

0.010

GeneticVariation

BEFREE

The HNSCC cells with MAPK1 E322K exhibited enhanced EGFR phosphorylation and erlotinib sensitivity compared with wild-type MAPK1 cells.

26181029

2015

dbSNP:

rs2072454

EGFR

0.010

GeneticVariation

BEFREE

EGFR intronic SNPs rs12535536, rs2075110, rs1253871, rs845561 and rs6970262 and synonymous SNP rs2072454 were associated with HNSCC risk among all subjects (p < 0.05).

25511740

2015

dbSNP:

rs6970262

EGFR

0.010

GeneticVariation

BEFREE

SNPs rs12538371, rs845561, and rs6970262 were significantly associated with HNSCC risk (p < 0.05) among never tobacco users.

25511740

2015

dbSNP:

rs845561

EGFR ; EGFR-AS1

0.010

GeneticVariation

BEFREE

SNPs rs12538371, rs845561, and rs6970262 were significantly associated with HNSCC risk (p < 0.05) among never tobacco users.

25511740

2015

dbSNP:

rs1057519830

EGFR

0.010

GeneticVariation

BEFREE

The occurrence of the P546S mutation needs to be evaluated in HNSCC, as a well as a prospective evaluation of cetuximab anti-tumour activity in patients with tumours harbouring the mutation.

23578570

2013

dbSNP:

rs1057519847

EGFR

0.010

GeneticVariation

BEFREE

Only one of the patients with an EGFR mutation in the primary HNSCC carried the same mutation (L858R) in the lymph node metastasis.

21953075

2012

dbSNP:

rs1057519848

EGFR

0.010

GeneticVariation

BEFREE

Only one of the patients with an EGFR mutation in the primary HNSCC carried the same mutation (L858R) in the lymph node metastasis.

21953075

2012

dbSNP:

rs121434568

EGFR

0.010

GeneticVariation

BEFREE

Only one of the patients with an EGFR mutation in the primary HNSCC carried the same mutation (L858R) in the lymph node metastasis.

21953075

2012

dbSNP:

rs1276184054

EGFR

0.010

GeneticVariation

BEFREE

Four novel mutations (E709K, V765G, Ins770G, and G1022S) and one mutation well-known in lung cancer (L858R) were identified in six HNSCC samples (7%), but we could not find any mutations in the extracellular domain of EGFR, such as EGFRvIII, in this study.

19726454

2009

dbSNP:

rs776375114

EGFR

0.010

GeneticVariation

BEFREE

19726454

2009

dbSNP:

rs754426793

EGFR ; EGFR-AS1

0.010

GeneticVariation

BEFREE

Identification of the rare EGFR mutation p.G796S as somatic and germline mutation in white patients with squamous cell carcinoma of the head and neck.

18528899

2008