PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Source: ALL
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
0.100 Biomarker disease BEFREE Although E<sub>2</sub> and E<sub>3</sub> were equally efficacious and potent on the endogenous ERE-containing pS2 promoter in the MCF-7 BUS breast cancer cell line co-expressing ERα and ERβ, E<sub>1</sub> was less efficacious and potent than E<sub>2</sub>. 28743541 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE Nonetheless, these results collectively suggest that the novel PS-2 alleles described here, especially R71W, affect PS-2 function and may potentially confer a moderate risk of susceptibility to breast cancer. 16474849 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Regulation of the estrogen-responsive pS2 gene in MCF-7 human breast cancer cells. 11162921 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE The pS2 gene product was firstly identified as an oestrogen-induced molecule in a breast cancer cell line, while recent studies demonstrate a close association with mucus-secreting epithelia. 10727981 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE The aim of this study was to determine whether expression of mRNA for the pS2 gene in breast cancer could contribute useful information on disease behaviour and survival at medium-term follow-up. 9472649 1998
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Its sequence is related to that of other trefoil peptides including the pNR-2/pS2 protein, which is regulated by oestrogen in breast cancer. 9306961 1997
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE DNA ploidy and pS2 protein expression in breast cancer. 9202892 1997
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Assay optimization for pLIV1, estrogen receptors (ERs), progesterone receptors, and pS2 gene products was carried out on 50 primary breast cancers for which comparative Northern analysis and immunocytochemical data were available. 9815611 1997
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE Genomic sequencing indicates a correlation between DNA hypomethylation in the 5' region of the pS2 gene and its expression in human breast cancer cell lines. 7607504 1995
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE The oestrogen-inducible pS2 protein has previously been associated with good prognosis for breast cancer patients. 7880621 1994
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE These data clearly indicate that the breast-cancer-associated pS2 protein also plays an as yet undetermined role in the tumorigenesis of human colorectal carcinomas. 7505265 1994
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE The expression of the pS2 gene, pS2 protein assays in tumor cytosols and more recently pS2 detection by immunocytochemistry, have been described in several series of breast cancers. 8240704 1993
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE Expression of the pS2 gene in breast cancer--a comparison of pS2 protein radioimmunoassay and immunohistochemistry. 8265245 1993
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Expression of c-erbB2, TGF-beta 1 and pS2 genes in primary human breast cancers. 1350458 1992
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE The human hSP gene, which contains a tandem duplication of the pS2 gene P domain and is coexpressed with the pS2 gene in normal stomach mucosa but not in breast cancers, is also expressed in Crohn's disease. 1985035 1991
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE The pS2 protein purified from conditioned medium of MCF-7 cells was S-pyridylethylated and digested with TPCK-trypsin. 2185238 1990
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE A 3.5 kb c-myb transcript band was detected in 108 (64%) tumours. c-myb expression was found to be associated with good prognostic factors (lowest histopathologic grade (P = 0.01), oestrogen and progesterone receptor status (P less than 10(-4)) and pS2 gene expression (P less than 10(-4)) and negatively correlated with breast cancers of poorer prognosis, namely IBC (P = 0.03) and NBC with multiple involved nodes (P = 0.15). 2181374 1990
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE Expression of the pS2 gene which is transcriptionally controlled by oestrogens in the breast cancer cell line MCF-7 is oestrogen independent in stomach mucosa. 2498085 1989
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE The expression of the estrogen-regulated breast-cancer-associated pS2 gene was examined in 75 stomach resections taken from 45 patients. 2583860 1989
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE The pS2 gene is transcriptionally induced by oestrogen in the human breast cancer cell line MCF-7. 2450536 1988
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Breast cancer-associated pS2 protein: synthesis and secretion by normal stomach mucosa. 3041593 1988
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE Using these assays we show that determination of pS2 gene expression allows the definition of subclasses of estrogen-receptor-containing breast cancers that may be used to more precisely identify estrogen-dependent tumors. 3321071 1987
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Characterization of the estrogen-induced pS2 protein secreted by the human breast cancer cell line MCF-7. 3665845 1987
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE The human pS2 gene, whose expression is restricted to breast cancer cells, and whose transcription is induced by oestrogen in the human breast cancer cell line MCF-7, has been cloned from both placental and MCF-7 cell DNA. 3822834 1987
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE Activation of pS2 gene transcription is a primary response to estrogen in the human breast cancer cell line MCF-7. 6593703 1984