Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE The results of methylation analysis, in combination with the results of our previous mutation analysis of CDKN2A locus and p53, revealed that 70% of SCCs have alterations in the RB1/p16 or p53 pathway. 17034532

2006

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Homozygous deletion of p16 appears to be common in esophageal squamous cell carcinomas but in adenocarcinomas, both gene deletion and transcriptional silencing of p16 were infrequent. 9333024

1997

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Both of CCNH-V270A C/C or C/T and XPD 751 A/A showed a significant longer survival in the squamous cell carcinoma subgroup (P=0.047 and P=0.034 respectively). 21676483

2012

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Are XPD and XPG gene variants related to the mechanism of oral squamous cell carcinoma? 30672443

2018

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Association of the XPD and XRCC3 gene polymorphisms with oral squamous cell carcinoma in a Northeastern Brazilian population: A pilot study. 26742000

2016

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Samples from 100 OPSCC patients were analyzed using polymerase chain reaction (PCR) and p16 immunohistochemistry. 30594962

2019

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Most advanced squamous cell carcinomas (SCCs), however, are immortal, a phenotype that is associated with p53 and INK4A dysfunction, high levels of telomerase and loss of heterozygosity (LOH) at several genetic loci, suggestive of the dysfunction of other mortality genes. 12642877

2003

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Squamous cell carcinoma (SCC) immortality is associated with p53 and INK4A dysfunction, high levels of telomerase and loss of heterozygosity (LOH) of other chromosomes, including chromosome 4. 12140764

2002

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Squamous cell carcinoma arising in association with verruca vulgares and HPV-2: a clinicopathologic study with p16 and p53 immunohistochemical studies and human papillomavirus in situ hybridization studies. 24717230

2014

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE These results suggest that p16INK4alpha/p19ARF mutations are less frequent than p53 mutations in Indian oral SCCs. 10675493

2000

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Interestingly, inactivation of RASSF1A and p16 correlated well with an extended smoking habit (P=0.02), and exposure to asbestos (P=0.017) or squamous cell carcinoma (P=0.011), respectively. 15911247

2005

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE CDKN2A mutation carriers presented more atypical naevi, multiple melanomas, and basal cell carcinoma, while non-carriers were more likely to have light-coloured hair, atypical naevi, and SCC. 29405243

2018

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Polymorphisms in ERCC2/XPD Asp312Asn may be associated with increased DNA adduct levels in the lung, especially among subjects with SQCC. 26001533

2015

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Our data suggest p16/MTS1 mutations and loss of expression to be very common in oral cancer cell lines and less frequent in primary OSCC tumours. 10389982

1999

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Molecular analysis of the p16 gene showed homozygous deletion in 37% of SCCs, 33% of CIS, and 15% of the samples of normal epithelia. 11355167

2001

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Somatic INK4a-ARF locus mutations: a significant mechanism of gene inactivation in squamous cell carcinomas of the head and neck. 11255261

2001

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE The correlations between alteration of p16 gene and clinicopathological factors and prognosis in squamous cell carcinomas of the buccal mucosa. 22429295

2012

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE This study indicates that MTS1 gene mutations may be involved in at least a minor proportion of oral SCCs. 8986966

1996

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE In conclusion, we demonstrate that CDKN2A alteration is a frequent event in OTSCC tumourigenesis. 24436120

2014

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE First, the alterations of the p16 gene are common in oral squamous cell carcinoma. 11555154

2001

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Human papillomavirus (HPV), p16 expression, and TP53 mutations are known prognostic factors in head and neck squamous cell carcinoma, but their role in squamous cell carcinoma of the anal canal (SCCAC) is less well established. 25871546

2015

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Statistically significant association of the single nucleotide polymorphism (SNP) rs13181 (ERCC2) with predisposition to Squamous Cell Carcinomas of the Head and Neck (SCCHN) and Breast cancer in the north Indian population. 19615095

2009

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE This is the first demonstration of aberrations in the INK4a locus in SCCs of human skin. 9125147

1997

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Recent studies have reported frequent p16 gene deletions in cell lines from squamous cell carcinomas of the head and neck (SCCHN), although the prevalence of alterations was variable in primary tumors. 9047388

1997

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 GeneticVariation BEFREE Accumulation of certain alleles or genotypes of the CYP1A1, NAT2, GSTM1 and XPD seems to be associated with either increased or decreased risk to develop laryngeal SCC. 15914211

2005