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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 CausalMutation group CGI
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE A comparison of the Cancer and Steroid Hormone Study (CASH) model and a model which assumes a rare dominant susceptibility locus with low penetrance and no phenocopies stresses the difficulties in assessing linkage if the assumptions of the CASH model in terms of age at onset of breast cancer are not appropriate for the BRCA1 locus. 8460640 1993
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE Genetic recombination between IGFBP4 and BRCA1 places IGFBP4 centromeric to the cancer susceptibility gene and effectively excludes it as a candidate gene for BRCA1. 7507078 1993
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE It is noteworthy that allele losses involve larger chromosome fragments in malignant tumors than in benign lesions where BRCA-1 is not lost, suggesting a similar mechanism for genomic deletion in the tumorigenesis of the colon and of the breast. 8290255 1994
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. 7907678 1994
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE Approximately two-thirds of women unaffected by malignancy and alive at the time of observation were non-BRCA1 carriers. 7820489 1994
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE If the risk of cancer in these families is assumed to be restricted to the ovary, the best estimate of the proportion of families linked to BRCA1 is .78 (95% confidence interval .32-1.0). 7977348 1994
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE It is estimated that in 100% of these families, there is linkage to a cancer susceptibility gene on chromosome 17q, BRCA1. 7922985 1994
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE In addition, increased transcription of mammary Brca1 during pregnancy might contribute, in part, to the reduced cancer risk associated with exposure to pregnancy and lactation. 7590247 1995
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE A genetic recombinant in a breast-ovarian cancer family indicates a placement of BRCA1 telomeric to D17S776, and helps to define the region of assignment of the cancer susceptibility gene. 7759076 1995
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE To establish whether known risk factors modify susceptibility to cancer in these women, we have studied the reproductive histories of 333 North American women who were found by haplotype analysis to carry BRCA1 mutations. 8550241 1995
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE The recent cloning of BRCA1 allows for the direct detection of mutations, but the feasibility of presymptomatic screening for cancer susceptibility is unknown. 7611277 1995
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE We describe a 43-year-old woman from a hereditary breast-ovarian cancer (HBOC) family which showed linkage to BRCA1 and who was at inordinately high risk for cancer but who was denied insurance coverage for prophylactic oophorectomy, despite strong recommendations by her gynecologist and a cancer geneticist-medical oncologist. 7705697 1995
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE The older age of onset in cases in which allele loss was seen only in the ovarian cancer suggests that the development of these cancers is not related to an inherited defect in BRCA1. 7892884 1995
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE We examined the application of our model to the above data using two assumptions, namely, that the proportion of cancers due to genetic susceptibility at the BRCA1 locus (1/200) and the frequency of the mutant allele (0.0033) estimated for Western populations are valid for Japanese women. 7652167 1995
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE Differences in cancer risk profiles observed in these families with multiple ovarian cancer and in carriers of the gene BRCA1 suggest that hereditary ovarian cancer is genetically heterogeneous. 8620417 1995
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE Mutations of the BRCA1 gene in human cancer. 8695765 1996
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE Seventy-nine patients with ovarian cancer, 62 hospitalized women without cancer (controls), and 120 healthy women participating in a fragile X screening program (also controls), examined for the presence of germline BRCA1 185delAG mutation. 8946903 1996
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE Validation of family history of breast cancer and identification of the BRCA1 and other syndromes using a population-based cancer registry. 8722746 1996
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE The observed overrepresentation of specific mutations within a subgroup of the general population may eventually contribute to the development of inexpensive and routine tests for BRCA1 mutations, as well as to the elucidation of other contributory factors (e.g., diet, environment, and chemical exposures) that may play a key role in cancer initiation and development. 8651293 1996
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 GeneticVariation group BEFREE A family history of pancreatic adenocarcinoma is not common in patients with this disease, but recent research has shown that pancreatic adenocarcinoma can be a feature of cancer susceptibility syndromes associated with germline mutations in p16, BRCA1, BRCA2, and APC. 8950667 1996
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE Treatments that are aimed at increasing the apoptotic threshold by BRCA1 gene therapy may have the potential to prevent the progression of these malignancies. 8700535 1996
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.600 Biomarker group BEFREE Furthermore, the potential relationship of BRCA1 gene to ovarian tumors of borderline malignancy remains also unclear. 8632895 1996