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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE PS2 protein in breast carcinomas: cut-off value of estrogen-regulated expression. 11327531 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE Regulation of the estrogen-responsive pS2 gene in MCF-7 human breast cancer cells. 11162921 2000
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 AlteredExpression disease BEFREE DNA ploidy and pS2 protein expression in breast cancer. 9202892 1997
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE The oestrogen-inducible pS2 protein has previously been associated with good prognosis for breast cancer patients. 7880621 1994
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 AlteredExpression disease BEFREE Expression of the pS2 gene in breast cancer--a comparison of pS2 protein radioimmunoassay and immunohistochemistry. 8265245 1993
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE The pS2 gene encodes for a small cysteine-rich protein, and was originally found by differential screening of a cDNA library from the human breast carcinoma cell line, MCF-7. 2290113 1990
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 AlteredExpression disease BEFREE hSP, the domain-duplicated homolog of pS2 protein, is co-expressed with pS2 in stomach but not in breast carcinoma. 2303034 1990
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE Breast cancer-associated pS2 protein: synthesis and secretion by normal stomach mucosa. 3041593 1988
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 AlteredExpression disease BEFREE The expression of the pS2 gene, which is induced by estrogen in the breast cancer cell line MCF-7, has been investigated in breast cancers by using pS2 mRNA determination in tumor specimens and immunocytochemistry to identify pS2 protein in paraffin-embedded sections. 3321071 1987
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
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