BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Four microsatellite polymorphic markers (D8S133, D8S136, and D8S137, for a putative tumor suppressor gene on chromosome 8p, and D17S855, for the BRCA1 gene on chromosome 17q) were used to examine the pattern of allelic loss in prostate cancer from 19 patients who had two or more distantly separate tumors (i.e., located on contralateral sides or separated by at least half the anterior-posterior diameter of the prostate). 9462681 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE This finding is in accordance with the adverse histopathologic features observed in BRCA1 tumors and underlines the need for surveillance in families that carry a BRCA1 mutation. 9469321 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE New developments include the use of: (i) intra-tumoural blood velocity as an end-point of colour Doppler imaging, (ii) serial measurements of serum tumour antigens to identify women for ultrasonography, and (iii) tests which detect regionally clustered germ-line BRCA1 mutations. 9484627 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE These genes appear to function as tumor suppressors, and although their mutation frequency in the general population is low, certain populations have a carrier frequency of up to 1% for particular BRCA1 and BRCA2 mutations. 9509273 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE BAP1 may be a new tumor suppressor gene which functions in the BRCA1 growth control pathway. 9528852 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE CpG methylation within the 5' regulatory region of the BRCA1 gene is tumor specific and includes a putative CREB binding site. 9528858 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 AlteredExpression group BEFREE We found two- to five-fold reduced BRCA1 expression levels in tumour specimens as compared to normal tissue. 9535786 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE The tumor suppressor gene BRCA1, is a nuclear phosphoprotein which associates with RNA polymerase II holoenzyme.CBP is a component of the holoenzyme. 9538157 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE In addition, chromosome 17q12-21 including BRCA1 locus may contain a candidate for tumor suppressor gene, particularly in scirrhous type gastric cancers arising in young patients. 9592181 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Pathology of sporadic breast tumors with LOH at the BRCA1 locus: correlation with histopathological features specific to familial BRCA1 tumors and absence of microsatellite instability. 9592202 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE No somatic mutations were detected in any of the tumors analysed, and only one BRCA1 mutation carrier was found among the familial cases. 9598872 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Mutant BRCA1 genes do not inhibit growth or suppress tumor, providing additional evidence that BRCA1 is a tumor-suppressor gene. 9616738 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Patients carrying mutations in BRCA1 or BRCA2 tumor suppressor genes have shown to have high risk in developing breast and ovarian cancers. 9619837 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 confer substantial increased lifetime risk for breast cancer, and in the case of BRCA1, for ovarian carcinoma as well. 9625424 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE BRCA1 is a familial breast and ovarian cancer susceptibility gene and encodes proteins that function as tumor suppressors in human breast cancer cells. 9625861 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 AlteredExpression group BEFREE On the other hand, the tumor specimens exhibited approximately 10-fold range of levels of BRCA1, with some specimens expressing barely detectable amounts of BRCA1 mRNA. 9639385 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Genotypes and allele loss in tumour tissue from 42 sister pairs were compared using markers within and around the BRCA1 and BRCA2 genes. 9643283 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Patients with BRCA1-associated breast cancer had twice as many progesterone-receptor-negative tumours (p<0.005) and development of contralateral breast cancer was four to five times as frequent as in the sporadic group (p<0.001). 9652611 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 AlteredExpression group BEFREE We stably expressed wild-type (wt) and tumor-associated mutant BRCA1 transgenes in DU-145, a human prostate cancer cell line with low endogenous expression of BRCA1. 9662340 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 AlteredExpression group BEFREE The BRCA1-related tumors expressed significantly lower levels of ER than tumors from the other hereditary groups. 9669814 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Furthermore, 75-100% of informative cases exhibited LOH at the loci p53, D17S1322 (intragenic to the tumor suppressor gene BRCA1), D17S1327 and MPO. 9692553 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE The aim of this study was to determine if mutation of the PTEN tumor suppressor gene is a feature of sporadic or BRCA1-associated ovarian carcinomas. 9698466 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Comparison of the primary tumor with the cell line revealed the same BRCA1 mutation and an identical pattern of allele loss at multiple loci, indicating that the cell line had maintained many of the properties of the original tumor. 9699648 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Cancers associated with BRCA1 mutations exhibited higher mitotic counts (P = .001), a greater proportion of the tumor with a continuous pushing margin (P<.0001), and more lymphocytic infiltration (P = .002) than sporadic (i.e., control) cancers. 9701363 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE LOH of BRCA1 correlated with high grade tumors (p=0.0005) and negative hormone receptors (p=0.01). 9735416 1998