Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 CausalMutation disease CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 Biomarker disease BEFREE Chromosome 9p allelic loss and p16/CDKN2 in breast cancer and evidence of p16 inactivation in immortal breast epithelial cells. 7796417 1995
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE From these data we conclude that the occurrence of CDKN2 (p16/MTS1) mutation in primary breast cancer is a rare event and is not likely to be involved in human breast tumour carcinogenesis and progression. 7547249 1995
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE Despite the frequent deletion of INK4 in breast cancer cell lines, no evidence was obtained for INK4 deletions in DNA from 45 primary breast carcinomas. 7591270 1995
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 Biomarker disease BEFREE To further analyze its role, we transfected hormone-responsive human breast cancer MCF-7 cells with the mts1 gene under the control of a strong constitutive promoter. 8824556 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 AlteredExpression disease BEFREE Preferential loss of expression of p16(INK4a) rather than p19(ARF) in breast cancer. 9816158 1996
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 Biomarker disease BEFREE These results indicate that cytoplasmic accumulation of the p16 protein identifies a subset of highly malignant breast carcinomas with accelerated tumour proliferation and other unfavourable parameters in breast cancer. 9862580 1998
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 AlteredExpression disease BEFREE Breast cancers with no detectable expression of h-mts1 were found to be estrogen and progesterone receptor positive. 9570150 1998
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE Alterations in polymorphic markers selected because they had been found to show a high rate of alterations in breast cancer in previous studies (D17S855, D17S654, D16S421, TH2, D10S197, and D9S161), as well as mutations in the p53 gene and aberrant methylation at the first exon of p16INK4a, were used to identify and characterize tumor and plasma DNA. 10397273 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE Our data show that de novo methylation of exon 1 of p16INK4a can be demonstrated in plasma DNA of breast cancer patients, a fact that provides additional evidence of the tumour-related origin of free plasma DNA in cancer patients. 10376981 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE Loss of heterozygosity analysis of primary breast cancer tumors has revealed a high frequency of deletion of DNA from 9p21-22 encompassing the MTSI (P16/CDKN2A) gene. 9892114 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 AlteredExpression disease BEFREE The significant negative correlation between p16INK4a and ER gene expression raises issues regarding their functional interrelationships and whether high p16INK4a expression may be associated with a lack of hormone responsiveness in breast cancer. 10914724 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 Biomarker disease BEFREE These results strongly suggest that p16INK4 is a tumor suppressor gene and suggest that it has potential utility in breast cancer gene therapy. 11023200 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 Biomarker disease BEFREE The purpose of the present study was to determine whether other mechanisms of cell cycle deregulation exist in breast cancers which have retained RB and p16 function. 11007034 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE They also show that families with the CDKN2A 113insArg mutation have an increased risk not only of multiple melanomas and pancreatic carcinoma but also of breast cancer. 10922411 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 Biomarker disease BEFREE Transfer of p14ARF gene in drug-resistant human breast cancer MCF-7/Adr cells inhibits proliferation and reduces doxorubicin resistance. 10960771 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 Biomarker disease BEFREE Senescence bypass screen identifies TBX2, which represses Cdkn2a (p19(ARF)) and is amplified in a subset of human breast cancers. 11062467 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE We hypothesized that p14ARF mutations and HDM2 gene amplification may be alternative mechanisms of p53 inactivation in breast cancer. 11336244 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 GeneticVariation disease BEFREE Molecular analysis of the INK4A and INK4B gene loci in human breast cancer cell lines and primary carcinomas. 11369056 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 Biomarker disease BEFREE In order to study the role of the p16INK4A(MTS1/CDKN2a) tumor suppressor in breast cancer, we analyzed p16 protein expression in 60 breast cancer samples which were also analyzed for expression of Rb, Ki67, HER2/neu, and estrogen and progesterone receptors (ER, PR). 11518467 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 AlteredExpression disease BEFREE In a group with low p16(Ink4a) expression determined by Western blotting, four randomly selected tumors contained several identical clones with methylation of 15 CpG dinucleotides by bisulphite genomic sequencing but with a methylation pattern that did not support detection by either Southern blotting or MSP, increasing the potential significance of p16(Ink4a) methylation in breast cancer. 11163109 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 AlteredExpression disease BEFREE Analysis of genetic and epigenetic processes that influence p14ARF expression in breast cancer. 11494155 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 Biomarker disease BEFREE Methylation techniques have shown that these epigenetic changes commonly occur at the same frequency in numerous genes, both well-known ( FHIT, APC, p16 ) and recently discovered ( TMS1, RASSF1 ) in non-small cell lung cancer and in breast cancer. 11880707 2002
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 Biomarker disease BEFREE To examine the potential therapeutic role of re-expressing p14(ARF) gene product in human breast cancer, a recombinant adenovirus expressing the human p14(ARF) cDNA (Adp14(ARF)) was constructed and used to infect breast cancer cells. 12200117 2002
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.500 Biomarker disease BEFREE Methylthioadenosine phosphorylase, a gene frequently codeleted with p16(cdkN2a/ARF), acts as a tumor suppressor in a breast cancer cell line. 12438261 2002