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 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 These results provide the first direct biological evidence for the possible function of BRCA1 as a tumor suppressor gene. 8637708 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 AlteredExpression group BEFREE Normal breast epithelium surrounding the BRCA1 tumors showed higher mRNA levels than the tumor tissue, indicating that the low mRNA levels were due to somatic inactivation of the wild-type BRCA1 allele in the tumor tissue. 8674039 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE BRCA1 is a putative tumour suppressor gene located on chromosome 17q21. 8695765 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE BRCA1 is proposed to be a tumor suppressor gene. 8698242 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE The breast and ovarian cancer susceptibility gene BRCA1, is a nuclear phosphoprotein which functions as a tumor suppressor. 8700535 1996
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 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 BRCA1 has been identified as a tumor suppressor gene that is mutated in many cases of inherited breast and ovarian cancer. 8840964 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Loss of the wild-type allele in > 90% of tumors from patients with inherited BRCA1 mutations indicates tumor suppressive function. 8938427 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE The BARD1/BRCA1 interaction is disrupted by BRCA1 missense mutations that segregate with breast cancer susceptibility, indicating that BARD1 may be involved in mediating tumour suppression by BRCA1. 8944023 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE The breast cancer susceptibility gene (BRCA1) has been identified as a putative tumor suppressor on chromosome 17. 8957093 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE BRCA1 is a tumour suppressor gene located on chromosome band 17q21. 9115959 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE These results suggest that BRCA1-induced breast cancers may manifest distinct tumour biological features of clinical importance. 9155518 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE All tumors of the patients carrying a mutation of BRCA1 showed deletion of wild-type alleles, implicating BRCA1 as a tumor suppressor gene. 9197534 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Tumors from women with BRCA1 mutations were significantly less likely to be estrogen receptor positive (age-adjusted odds ratio [or]: 0.091; P < 0.001) and more likely to have a high nuclear grade (OR: 5.55; P 0.001) than tumors in which no mutation was identified. 9241077 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Germline mutations in tumor suppressor genes BRCA1 and p53 are used to illustrate the magnitude of the ethnic differences for breast cancer that might arise from differences in inherited susceptibility. 9255577 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Mutations of the BRCA1 gene in tumor DNA from patients with sporadic breast cancer have not yet been observed. 9269993 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Firstly, family members of affected patients are likely to carry mutations as well, and should be considered for BRCA1 screening; and secondly, persons harbouring a germline BRCA1 mutation should be examined frequently and indefinitely for new primary tumours in remaining breast tissue. 9274454 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Because a normal allele of BRCA1 was retained in the tumor where a germline missense alteration was detected, the heterozygous DNA alteration should not be cancer predisposing in terms of the two-hit model for inactivation of the tumor suppressor gene. 9299260 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Detailed deletion mapping has localized the potential tumor suppressor loci to a < 2 Mb region centromeric to the BRCA1 gene on chromosome 17q. 9321930 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE However, whether and how these various factors influence tumor development in BRCA1 mutation carriers is not known. 9406579 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Tumors from 90 patients were examined for TP53 abnormality and loss of heterozygosity (LOH) at 11 loci on 17q (17q11.2-21) and 13q (13q12-14), including the loci for BRCA1 and BRCA2. 9408754 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 Biomarker group BEFREE Accordingly, BARD1 is likely to be a critical factor in BRCA1-mediated tumor suppression and may also serve as a target for tumorigenic lesions in some human cancers. 9425226 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.500 GeneticVariation group BEFREE Presence of germ-line mutations in the BRCA1 gene of these tumors is an infrequent event. 9440731 1998