OMIM :  600160

GENECARD : CDKN2A

CGAP : 1174

Cell Cycle

• Blocks G1-S progression. Gretarsdottir S, Olafsdottir GH, Borg A.

• G1 arrest of the cell cycle. Kobayashi S, Shirasawa H, Sashiyama H, Kawahira H, Kaneko K, Asano T, Ochiai T.

• Regulators of the G1 checkpoint include an inhibitor of cyclin-dependent kinase, p16INK4. Okamoto A, Demetrick DJ, Spillare EA, Hagiwara K, Hussain SP, Bennett WP, Forrester K, Gerwin B, Serrano M, Beach DH, et al.

Chromosome, Human

• Location of the tumor suppressor gene CDKN2A (MTS1/p16). Biden K, Young J, Buttenshaw R, Searle J, Cooksley G, Xu DB, Leggett B.

Cis Acting Effect

• Novel p16 allele with a G to T transversion at position 451, creating a missense amino acid change at codon 145 (Asp to Cys)and possibly disrupting the donor splice site of the exon 2/3 boundary. Moskaluk CA, Hruban H, Lietman A, Smyrk T, Fusaro L, Fusaro R, Lynch J, Yeo CJ, Jackson CE, Lynch HT, Kern SE.

• Gene therapy to improve the surgical therapeutic results for pancreas cancer. Kobayashi S, Shirasawa H, Sashiyama H, Kawahira H, Kaneko K, Asano T, Ochiai T.

• Pathology of incipient pancreatic cancer. Hruban RH, Wilentz RE, Goggins M, Offerhaus GJ, Yeo CJ, Kern SE.

• Prognosis of human pancreatic adenocarcinoma: review of clinical and histopathological variables and possible uses of new molecular methods. Eskelinen MJ, Haglund UH.

• Gene therapy and pancreatic cancer. Pearson AS, Bouvet M, Evans DB, Roth JA.

Function

• Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Vasen HF, Gruis NA, Frants RR, van Der Velden PA, Hille ET, Bergman W.

• p16(INK4a) (p16) is tight-binding and inhibitory protein for cyclin-dependent kinase 4. Kobayashi S, Shirasawa H, Sashiyama H, Kawahira H, Kaneko K, Asano T, Ochiai T.

• Mutation of cell cycle regulators, such as inhibitor of CDK4 or p16 tumor suppressor gene, is a new molecular event in pancreas cancer. Chu TM.

Gene Frequency (Tumors)

• 37.5% (3 of 8) of cystadenomas and 41. 9% (26 of 62) of  primary pancreatic carcinoma lost p16 expression. Hu YX, Watanabe H, Ohtsubo K, Yamaguchi Y, Ha A, Okai T, Sawabu N.  

• Molecular analysis of microdissected tumors and preneoplastic intraductal lesions in pancreatic carcinoma. Heinmoller E, Dietmaier W, Zirngibl H, Heinmoller P, Scaringe W, Jauch KW, Hofstadter F, Ruschoff J.  

• Inactivation of the p16 (INK4A) tumor-suppressor gene in pancreatic duct lesions: loss of intranuclear expression. Wilentz RE, Geradts J, Maynard R, Offerhaus GJ, Kang M, Goggins M, Yeo CJ, Kern SE, Hruban RH.  

Regulation

• Hypermethylation of multiple genes in pancreatic adenocarcinoma. Ueki T, Toyota M, Sohn T, Yeo CJ, Issa JP, Hruban RH, Goggins M.  

• Molecular pathological studies have described deletions of tumor suppression genes such as CDKN29807701. Eskelinen MJ, Haglund UH.

• Adenocarcinoma of the pancreas has also been associated with loss of tumor suppressor genes. Perugini RA, McDade TP, Vittimberga FJ Jr, Callery MP

• Cancers of the pancreas are frequently associated with inactivation of multiple tumor suppressor genes. Hruban RH, Petersen GM, Ha PK, Kern SE.

• Inherited mutations in the CDKN2A tumor suppressor gene. Borg A, Sandberg T, Nilsson K, Johannsson O, Klinker M, Masback A, Westerdahl J, Olsson H, Ingvar C.

• Mutation of cell cycle regulators, such as p16 tumor suppressor gene, is a new molecular event in pancreas cancer. Chu TM.

Tumor Incidence

• Molecular analysis of microdissected tumors and preneoplastic intraductal lesions in pancreatic carcinoma. Heinmoller E, Dietmaier W, Zirngibl H, Heinmoller P, Scaringe W, Jauch KW, Hofstadter F, Ruschoff J.

• Overall, 91.7% of the specimens demonstrated inactivating alterations in p16/MTS1. Muscarella P, Melvin WS, Fisher WE, Foor J, Ellison EC, Herman JG, SchirmerWJ, Hitchcock CL, DeYoung BR, Weghorst CM.

Tumor Type

• High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. Borg A, Sandberg T, Nilsson K, Johannsson O, Klinker M, Masback A, Westerdahl J, Olsson H, Ingvar C. Borg A, Sandberg T, Nilsson K, Johannsson O, Klinker M, Masback A, Westerdahl J, Olsson H, Ingvar C.