chr9:21968056:> Detail (hg38) (CDKN2A)

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Information

Genome

Assembly	Position
hg19	chr9:21,968,055-21,974,865
hg38	chr9:21,968,056-21,974,866

Type	Transcript	Protein

Summary

[No Data.]

[No Data.]

Links

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
head and neck squamous cell carcinoma	Afatinib	B	Predictive	Supports	Resistance	N/A	2	25892145	Detail
lung non-small cell carcinoma		B	Prognostic	Supports	Poor Outcome	Somatic	2	22619677	Detail
head and neck squamous cell carcinoma	Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor	B	Predictive	Does Not Support	Resistance	Somatic	3	24577117	Detail
head and neck squamous cell carcinoma		B	Prognostic	Supports	Better Outcome	Somatic	4	24799460	Detail
head and neck squamous cell carcinoma	Panitumumab	B	Predictive	Supports	Resistance	Somatic	3	23746666	Detail
head and neck squamous cell carcinoma	Cetuximab	B	Predictive	Does Not Support	Resistance	Somatic	4	24577089	Detail
head and neck squamous cell carcinoma	Panitumumab	B	Predictive	Supports	Sensitivity/Response	Somatic	3	23746666	Detail
oropharynx cancer		A	Prognostic	Supports	Better Outcome	Somatic	4	20530316	Detail
oropharynx cancer	Cetuximab	B	Predictive	Does Not Support	Resistance	Somatic	4	26712222	Detail
head and neck squamous cell carcinoma		B	Prognostic	Supports	Better Outcome	Somatic	3	25267748	Detail

DisGeNET

[No Data.]

Annotation

Descrption	Source	Links
Phase III trial to compare afatinib or metothrexate in recurrent or metastatic head and neck squamou...	CIViC Evidence	Detail
In a cohort of 73 patients with stage I or stage II NSCLC it was discovered that the CDKN2A protein ...	CIViC Evidence	Detail
In this retrospective analysis of the SPECTRUM trial, p16 (CDKN2A) expression (and HPV-infection) wa...	CIViC Evidence	Detail
p16 positivity, as a surrogate marker for HPV-associated HNSSC was a favorable prognostic marker in ...	CIViC Evidence	Detail
In this retrospective analysis of p16 status as surrogate marker for HPV in the SPECTRUM trial, p16 ...	CIViC Evidence	Detail
In this study response to EGFR-inhibition by cetuximab was independent of HPV-status, represented by...	CIViC Evidence	Detail
p16-negative patients (HPV negative) have a longer overall survival under panitumumab/chemotherapy i...	CIViC Evidence	Detail
720 patients with stage III/IV oropharyngeal cancer were retrospectively analyzed for p16 and HPV st...	CIViC Evidence	Detail
This study shows that benefit of EGFR inhibition in addition to radiotherapy was independent of p16/...	CIViC Evidence	Detail
Patients from three studies (RTOG 0129, 0234, and 0522; 85, 95 and 142 patients, respectively) were ...	CIViC Evidence	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr9:21,968,056-21,974,866
Variant Type: snv
Variant (CIViC) (CIViC Variant): p16 EXPRESSION
Transcript 1 (CIViC Variant): ENST00000498124.1
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/272
Summary (CIViC Variant): CDKN2A (p16) expression is a surrogate marker of HPV infection in oropharyngeal squamous cell carcinoma. CDKN2A and p53 are inactivated through HPV proteins E6 and E7 and therefore not altered in expression level in HPV-associated carcinomas. However, there is no perfect overlap between p16 expression and HPV status with some 10-12.5% of HPV-negative tumors expressing p16. (Seiwert, T JCO, 2014). p16 positivity is a well-established positive prognostic factor in squamous cell cancer of the head and neck in the primary and, as increasing evidence suggests, recurrent/metastatic disease settings. Predictive information from HPV status have not been established to date. A lack of benefit from EGFR-inhibitors has been proposed by some studies. Other studies were not able to reproduce this finding.

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