Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

TP53

Gene name: tumor protein p53
OMIM ID: 191170
Chromosome location: 17p13.1

Mutations

Disease/PhenotypeGlioblastoma
Reference transcriptNM_000546.5
DNA Changec.406C>T
A.A. Changep.Q136X
Exon/Intronexon 5
Mutation Typesubstitution
ReferenceHilmani S, Abidi O, Benrahma H, Karkouri M, Sahraoui S, El Azhari A, Barakat A.Clinicopathological Features and Molecular Analysis of Primary Glioblastomas in Moroccan Patients.
J Mol Neurosci. 2012 Aug 4.
Disease/PhenotypeGlioblastoma
Reference transcriptNM_000546.5
DNA Changec.818G>A
A.A. Changep.R273H
Exon/Intronexon 8
Mutation Typesubstitution
ReferenceHilmani S, Abidi O, Benrahma H, Karkouri M, Sahraoui S, El Azhari A, Barakat A.Clinicopathological Features and Molecular Analysis of Primary Glioblastomas in Moroccan Patients.
J Mol Neurosci. 2012 Aug 4.
Disease/PhenotypeGlioblastoma
Reference transcriptNM_000546.5
DNA Changec.916 C>T
A.A. Changep.R306X
Exon/Intronexon 8
Mutation Typesubstitution
ReferenceHilmani S, Abidi O, Benrahma H, Karkouri M, Sahraoui S, El Azhari A, Barakat A.Clinicopathological Features and Molecular Analysis of Primary Glioblastomas in Moroccan Patients.
J Mol Neurosci. 2012 Aug 4.

Polymorphisms

Disease/Phenotypehepatocellular carcinoma, susceptibility to
Reference transcriptNM_000546.5
DNA Changec.215C>G
A.A. Changep.Pro72Arg
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1042522
Cases96 HCC patients
Controls222 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Arg0.7030.759
Pro0.2970.2410.317
Arg/Arg52 (54.2%)129 (58.1%)
Arg/Pro31 (32.3%)79 (35.6%)0.088
Pro/Pro13 (13.5%)14 (6.3%)0.019
CommentsThe Pro/Pro genotype of the p53-Arg72Pro polymorphism was associated with hepatocellular carcinoma, the frequencies of Pro/Pro was significantly more prevalent in patients with HCC than controls (13.5% vs. 6.3%, P < 0.02) than controls.
ReferenceEzzikouri S, El Feydi AE, Chafik A, Benazzouz M, El Kihal L, Afifi R, Hassar M, Pineau P, Benjelloun S. The Pro variant of the p53 codon 72 polymorphism is associated with hepatocellular carcinoma in Moroccan population.
Hepatol Res. 2007 Sep;37(9):748-54.
Disease/PhenotypeCervical carcinoma
Reference transcriptNM_000546.5
DNA Changec.215C>G
A.A. Changep.Pro72Arg
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1042522
Cases113 patients with cervical cancer (women)
Controls100 healthy controls (women)
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Arg/Arg 19 18
Arg/Pro5758
Pro/Pro3724
CommentsNo significant association between p53 codon 72 polymorphism and cervical carcinoma in Moroccan women.
ReferenceEl khair MM, Ennaji MM, El kebbaj R, Mhand RA, Attaleb M, El Mzibri M. p53 codon 72 polymorphism and risk of cervical carcinoma in Moroccan women.
Med Oncol. 2010 Sep;27(3):861-6.
Disease/PhenotypeBreast cancer, susceptibility to
Reference transcriptNM_001126118.1
DNA Changec.-22+10_-21-54ACCTGGAGGGCTGGGG(1_2)
A.A. Change
Exon/Intronintron 3
Variation Typeduplication
Reference SNPrs17878362
Cases105
Controls114
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A182.9%80.7%1
A217.1%19.3%0.87 (0.53-1.41)0.56
A1/A169.5%68.4%1
A1/A226.7%24.6%1.07 (0.58-1.97)0.83
A2/A23.8%7%0.53 (0.15-1.85)0.32
CommentsA1 allele: one copy of the sequence ACCTGGAGGGCTGGGG. A2 allele: two copies of the sequence ACCTGGAGGGCTGGGG
ReferenceMarouf C, Tazzite A, Diakité B, Jouhadi H, Benider A, Nadifi S.Association of TP53 PIN3 polymorphism with breast cancer in Moroccan population.
Tumour Biol. 2014 Dec;35(12):12403-8.