CDKN1A, cyclin dependent kinase inhibitor 1A, 1026

N. diseases: 490; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.400 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.400 GeneticVariation disease GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
Malignant neoplasm of urinary bladder
0.400 GeneticVariation disease BEFREE Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden. 24777035 2014
Malignant neoplasm of urinary bladder
0.400 GeneticVariation disease BEFREE In order to assess potential p21WAF1/CIP1 gene alterations in human bladder cancer, we have examined this gene and its encoded product in a well-characterized cohort of 27 primary bladder tumors. 9114433 1996
Malignant neoplasm of urinary bladder
0.400 GeneticVariation disease BEFREE Our findings suggest that TP53/CDKN1A double-mutant bladder cancer cells have a unique dependence on Chk1 activity for the G2-M cell-cycle checkpoint in response to chemotherapy-induced DNA damage. 25349305 2015
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.400 GeneticVariation disease BEFREE Our findings suggest that TP53/CDKN1A double-mutant bladder cancer cells have a unique dependence on Chk1 activity for the G2-M cell-cycle checkpoint in response to chemotherapy-induced DNA damage. 25349305 2015
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.400 GeneticVariation disease LHGDN p21 gene codon 31 polymorphism is associated with bladder cancer. 12474524 2002
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.400 GeneticVariation disease BEFREE In order to assess potential p21WAF1/CIP1 gene alterations in human bladder cancer, we have examined this gene and its encoded product in a well-characterized cohort of 27 primary bladder tumors. 9114433 1996
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE The rate of polymorphic p53 and WAF1 alleles and their association with BRCA mutation, ethnic origin, age and stage at diagnosis, and family history of cancer. 10901555 2000
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Absence of WAF1 mutations in a variety of human malignancies. 7949134 1994
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE This is the first report of WAF1/CIP1 mutation in a primary human cancer. 7478562 1995
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Matched venous blood and cancer tissues from 66 patients with cervical cancer were screened for WAF1 mutation by reverse transcription-polymerase chain reaction (RT-PCR) and DNA sequencing. 11179504 2001
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE However, there are few reports describing somatic mutations of the WAF1 gene in various human malignancies. 10021299 1999
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Two variants of the CIP1/WAF1 gene occur together and are associated with human cancer. 7655464 1995
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE We examined DNAs from 70 human primary lung (63 of NSCLC and 7 of SCLC) and 24 pancreatic cancers (19 primary cancers and 5 cell lines) for mutations of the WAF1 gene. 8613430 1996
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Association between human cancer and two polymorphisms occurring together in the p21Waf1/Cip1 cyclin-dependent kinase inhibitor gene. 9191533 1997
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE And for the very first time, we identified somatic mutations of the WAF1/CIP1 gene in primary human malignancy-human prostate cancer. 9321930 1997
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE The Rb1G mutation enhanced Trp53 cancer susceptibility, but had no effect in combination with Cdkn1a deficiency or KrasG12D. 30703085 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Polymorphic variants of p53, at codon 72, and CDKN1A, at codon 31, have been associated with cancer susceptibility, but few studies have investigated their effect on oral cancer risk. 17595776 2007
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE To understand whether mutations of WAF1/Cip1 occur in cancer, we screened 53 cases of invasive breast carcinoma, 35 cases of ductal carcinoma in situ (DCIS), 53 ovarian carcinomas, and 47 endometrial carcinomas in the second exon of WAF1/Cip1 (90% of the open reading frame). p21WAF1/Cip1 expression was characterized with immunohistochemistry. 9006333 1997
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Polymorphic variants of p53 at codon 72, and CDKN1A at codon 31, have been found to be associated with cancer susceptibility, but few studies have investigated their effect on endometriosis risk. 22199295 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Two of the polymorphisms were also seen in a group of 157 healthy controls indicating that WAF1/CIP1 polymorphisms do not predispose to cancer. 7577473 1995
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Certain polymorphic variants of Waf-1 and p53 have been evaluated for their association with cancer risk. 11815410 2002
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE In proportion with increases in frequency of p53 and K-ras mutations during progression from dysplasia to cancer, the oncogenic pSmad3L/c-Myc pathway came to be dominant with suppression of the pSmad3C/p21(WAF1) pathway. 20602465 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Analysis of CDKN1A polymorphisms: markers of cancer susceptibility? 12699883 2003