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 Biomarker group HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Loci other than BRCA1 that have been identified appear not only to predispose to breast and/or ovarian tumors, but to tumors at other sites too. 8116068 1993
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE The allel retained in each tumour was from the disease-bearing chromosome implicating BRCA1 as a tumour suppressor gene. 8281142 1993
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Markers from this map can be used to determine whether cancer is linked to BRCA1 in families, to evaluate whether tumors have lost heterozygosity at loci in the region, and to identify probes for characterizing chromosomal rearrangements from patients and from tumors. 8244378 1993
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE The BRCA1 region is also subject to allelic loss in sporadic breast and ovarian cancers, an indication that BRCA1 mutations may occur somatically in these tumors. 7939630 1994
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE We have thus excluded THRA1 as a commonly mutated sporadic breast cancer tumor suppressor gene and as the BRCA1 gene. 7511052 1994
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE These results suggest that a potential tumor-suppressor gene involved in both sporadic and familial ovarian cancer may reside on the distal portion of chromosome 17q and is distinct from the BRCA1 gene. 7942844 1994
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Loss of heterozygosity in breast and ovarian tumors from BRCA1-linked patients always involved loss of wild-type alleles from chromosome 17q21, suggesting that BRCA1 acts as a tumor suppressor gene. 7987831 1994
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Thus it is a plausible candidate for a tumor suppressor gene such as BRCA1. 7829067 1994
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE We have found a low frequency of loss of heterozygosity at this region, and our results do not support the idea that BRCA1 is a tumor suppressor gene. 8076936 1994
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE There was loss of the wild-type allele from both maternally and paternally derived chromosomes, therefore excluding the possibility of genomic imprinting and providing further evidence that BRCA1 is a tumor suppressor. 7954448 1994
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE These data are consistent with a tumour suppressor model, and support the notion that this candidate gene is in fact BRCA1. 7894491 1994
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Recent data support the hypothesis that BRCA1 is a tumor suppressor gene that may be important in the development of both inherited and sporadic breast and ovarian cancers. 8039134 1994
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Our results suggest that a potential tumor suppressor gene(s) may reside in the < 2 Mb region centromeric (inclusive) to the BRCA1 gene and that this tumor suppressor gene(s) may be involved in the formation of prostate cancer. 7478543 1995
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Previous studies of loss of heterozygosity (LOH) in breast tumors have been carried out on sporadic tumors derived from individuals without known linkage to BRCA1 and on tumors from linked families. 9816013 1995
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Inhibition of BRCA1 expression in mammary epithelial cell lines also suggests that BRCA1 may act as a tumor suppressor. 8541881 1995
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Examples include the RB1 gene for retinoblastoma; the WT1 gene for Wilms' tumor; germline p53 mutations in families with the Li-Fraumeni syndrome; the NF1 and NF2 genes for neuroblastomatosis, types 1 and 2; the VHL gene for renal cancer and other tumors associated with Von Hippel-Lindau disease; the APC gene for adenomatous polyposis coli; the BRCA1 gene for hereditary breast and ovarian cancer; and the mismatch repair genes for colon and other common cancers. 8741802 1995
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Our data support a tumour suppressor mechanism for BRCA1; somatic mutations and LOH may result in inactivation of BRCA1 in at least a small number of ovarian cancers. 7795652 1995
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE These data are consistent with the hypothesis that BRCA1 mutations are involved in the etiology of hereditary ovarian carcinomas but occur rarely in sporadic tumors, and that the frequent allelic loss on chromosome 17q in this cancer type reflects the involvement of an additional tumor suppressor gene(s). 7606717 1995
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Thus, our results provide functional evidence for the presence of one or more tumor suppressor gene(s) on chromosome 17, which are distinct from the p53 and the BRCA1 genes. 7845668 1995
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Sporadic ovarian tumors are the end result of a complex pathway involving multiple oncogenes and tumor suppressor genes, including HER-2/neu, K-ras, p53, BRCA1, and additional tumor suppressor genes on chromosome 17. 8634990 1995
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Analysis of polymorphic loci on 17q in the series of hybrid clones suggested that a tumor suppressor gene associated with prostate cancer was located in a region no more than 28 cM long at 17q12-q22, which includes the BRCA1 gene involved in hereditary breast cancer. 7614477 1995
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE We observed a prevalence of highly proliferating tumors when the mutation occurs in the two terminal conserved domains of the BRCA1 protein, ie., in the amino and carboxyl termini (P = 0.0024). 8764110 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE However, two cases showed AI distal to BRCA1, supporting the presence of a second tumour-suppressor gene on 17q. 8605099 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE BRCA1 has been identified as a tumor suppressor gene that is mutated in many cases of inherited breast and ovarian cancer. 8840964 1996