CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE HPV 16 and/or 18 were detected in 156 (80%) tumors. p16 was positive in 186 (96%) carcinomas, but eight tumors (4%) were negative for p16 (seven squamous cell carcinomas, one adenocarcinoma); 5/8 caused by HPV 16 and/or 18. 31492932 2020
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Nevertheless, specific mutations of p14ARF have been described in different types of human cancers such as colorectal and gastric carcinomas, melanoma and glioblastoma. 30836703 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE The stromal p16 status was negative in all myoinvasive carcinomas, but there was 1 case with focal staining. 31600177 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Cyfra21-1 assay showed significant differences between tumors of different sites with prominent elevation being found in oropharyngeal carcinomas and between patients with p16 positive and p16 negative HNSCC (p=0.0242), being elevated in p16 positive tumors. 31519630 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Earlier studies have shown that CDKN2A excludes the predisposition of germline variants, but interestingly shares common breast cancer germline variants with other carcinomas. 30039340 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE <i>K</i><sub>ep</sub> kurtosis and <i>V</i><sub>e</sub> min can differentiate p16 positive and p16 negative carcinomas. 30718984 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE There were no statistically significant differences of ADC histogram parameters between p16 positive and p16 negative carcinomas. 30189236 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE One of the hypopharyngeal HPV positive carcinomas was also p16 positive and one was p16 negative. 29744637 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Regarding histological parameters, p16INK4a and HR-HPV were significantly associated only with tumor subtype (p = 0.036 and p = 0.032, respectively); all carcinomas with basaloid characteristics were positive for p16INK4a. 30312320 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Results The major recommendations include (1) testing newly diagnosed oropharyngeal squamous cell carcinoma patients for high-risk HPV, either from the primary tumor or from cervical nodal metastases, using p16 immunohistochemistry with a 70% nuclear and cytoplasmic staining cutoff, and (2) not routinely testing nonsquamous oropharyngeal carcinomas or nonoropharyngeal carcinomas for HPV. 29251996 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Symbolic non-synonymous single nucleotide variants (SNVs) of both the <i>TP53</i> gene (P33R) in each single aneuploid CTCs, and the cyclin-dependent kinase inhibitor 2A (<i>CDKN2A</i>) tumor suppressor gene in each examined aneuploid CECs, were identified for the first time across patients with diverse carcinomas. 29670052 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE These benefits were observed regardless of p16 status for oropharynx carcinomas. 29878867 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Fluorescence in situ hybridization detected in 38 % of carcinomas a CDKN2A, in 32 % a TP53 and in 8 % an ATM gene deletion, whereas only one B3 thymoma exhibited a CDKNA deletion, and none of the type A thymomas showed a gene loss. 27844328 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Diffuse p16 staining in ≥75% of tumour cells was noted in all HPV-related carcinomas with adenoid cystic-like features but in only one AdCC (100% versus 7%, P < 0.01). 28664668 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE A homozygous CDKN2A deletion was identified in the low-grade areas of eight of nine (88%) technically suitable FGFR3 mutant cases (including five pTa cancers), in five of nine FGFR3 wild-type carcinomas and in none of the PLGUC. 27530957 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Gross tumor volume (GTV) from the PET/CT radiation treatment planning CT scan, maximal Standard Uptake Value (SUVmax) of fludeoxyglucose (FDG) and clinical information were included in the model building using Cox proportional hazards models, stratified for p16 status in oropharyngeal carcinomas. 28840766 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE In ovarian epithelial carcinogenesis, p16 and p53 show higher immunohistochemical staining frequencies in malignant tumors and are associated with poor prognoses. p14 was only analyzed in carcinomas, with conflicting results. 27770808 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE Unexpectedly, metastasis was not observed in mice that developed spindle carcinomas, which expressed high levels of the tumour suppressors p16(Ink4a) and p19(Arf) , encoded by Cdkn2a, a gene frequently deleted in human SCCs. 27447534 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE There were 11 low-grade tumors, 5 frankly invasive carcinomas, and 1 with histologic features that were intermediate between the former 2 categories. p16 immunostain was negative or showed patchy cytoplasmic staining in the low-grade tumors and was strongly and diffusely positive in the invasive carcinomas. 26352551 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE We conclude that: (1) BAP1 immunohistochemistry is relatively insensitive in the context of sarcomatous and desmoplastic mesotheliomas, but as a matter of time and cost efficiency may nonetheless be a useful first approach to the problem; (2) deletion of p16 by FISH is considerably more sensitive, but there remain a proportion of cases in which p16 is not deleted; (3) a small improvement in sensitivity can be achieved by using both markers; (4) in the context of a spindle cell malignant tumor in the pleura or peritoneum, which morphologically might be a metastatic sarcomatoid carcinoma or a mesothelioma, the finding of BAP1 loss favors mesothelioma, but p16 FISH cannot be used to separate sarcomatous mesotheliomas from sarcomatoid carcinomas. 26900815 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE The scraped cell material from FNA smears and corresponding surgical specimens were analyzed for HPV DNA by PCR. p16 immunohistochemistry was performed on surgical specimens from the carcinomas. 27404322 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Although primary lung neoplasms are not HPV-related, p16 positivity can be seen in both squamous cell and small cell lung carcinomas. 26764038 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE The protective effect of p16(INK4a) in oral cavity carcinomas: p16(Ink4A) dampens tumor invasion-integrated analysis of expression and kinomics pathways. 25523612 2015
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Cell cycle protein p16 INK4a (p16) plays an important role in the pathophysiology of cervical carcinomas. 24925218 2015
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE ASCL1, BCL2, CASP8, CCNE1, CDK1, CDK2, CDKN1A and CDKN2A showed lower expression in carcinoids compared to carcinomas. 26008974 2015