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: C1458155
Disease: Mammary Neoplasms
Mammary 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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group BEFREE Such widespread genetic changes, together with recurrent loss of 5q and gain of 8q were reminiscent of those reported specifically for basal-like, estrogen receptor-negative, and BRCA1-associated breast tumors. 19047897 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE To determine if BRCA1 mutations explain a significant proportion of familial pancreatic cancer, we sequenced the BRCA1 gene in a large series of well-characterized patients with familial pancreatic cancer and we evaluated the pathology of breast neoplasms that developed in relatives of pancreatic cancer patients. 19029836 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression group LHGDN A novel tricomplex of BRCA1, Nmi, and c-Myc inhibits c-Myc-induced human telomerase reverse transcriptase gene (hTERT) promoter activity in breast cancer. 11916966 2002
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE Loss of heterozygosity (LOH) of the wild-type BRCA1/2 allele is a reproducible event in breast tumors of BRCA1/2 mutation carriers, but it is unknown if this allelic loss occurs only in association with recognizable histopathologic abnormalities. 15104281 2004
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation 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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE BRCA1 is considered to be a tumor-suppressor gene, yet mutations in this gene are uncommon in sporadic breast tumors. 9639385 1998
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE Relationship of patients' age to histopathological features of breast tumours in BRCA1 and BRCA2 and mutation-negative breast cancer families. 15987451 2005
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 AlteredExpression group BEFREE Decreased BRCA1 expression levels may arrest the cell cycle through activation of p53 checkpoint in human sporadic breast tumors. 9535786 1998
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN Immunohistochemistry, performed on TMA samples, showed positive nuclear staining for BRCA1 in 34 sporadic and 37 familial breast tumours, respectively. 19012246 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE A statistically significantly higher frequency of p53 mutations was found in breast tumors from carriers of BRCA1 mutations than from noncarriers, which adds to the accumulating evidence that loss of p53 function is an important step in the molecular pathogenesis of BRCA1 mutation-associated breast tumors. 10070948 1999
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE Paraffin wax embedded sections of breast tumours from BRCA1 mutation carriers and age, grade, histological type, and tumour size matched non-familial controls that had previously been stained for cyclin D1 and HER2 protein overexpression were analysed for CCND1 and HER2 gene amplification using fluorescence in situ hybridisation. 11477142 2001
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE The results manifest the frequent alterations of chromosome 4 in BRCA1-associated breast tumors and indicate the location of several genes of potential importance in breast cancer development. 15521105 2004
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE Here we present a systematic genomic analysis of breast tumors with BRCA1 and BRCA2 mutations. 31182087 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN Cancer risks for Australian women with a BRCA1 or a BRCA2 mutation. 17497966 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 Biomarker group LHGDN Frequently increased epidermal growth factor receptor (EGFR) copy numbers and decreased BRCA1 mRNA expression in Japanese triple-negative breast cancers. 18950515 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE Moreover, gene expression profiling revealed that breast tissue heterozygous for a BRCA1 mutation and basal breast tumors were more similar to normal luminal progenitor cells than any other subset, including the stem cell-enriched population. 19648928 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. 17063270 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 PosttranslationalModification group BEFREE BRCA1 promoter methylation in sporadic breast tumors: relationship to gene expression profiles. 15868446 2005
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE Breast tumours from BRCA1 and BRCA2 mutation carriers are genetically instable and display specific patterns of chromosomal aberrations, suggestive of distinct genetic pathways in tumour progression. 9467939 1998
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN Occult fallopian tube cancer in a patient with BRCA1 breast cancer. 18971141 2009
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE We can thus speculate that women with early onset breast cancer who carry a BRCA1 or BRCA2 mutation are prone to acquire a second breast tumour. 10573018 2000
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators. 18375895 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group LHGDN Smoking and risk of breast cancer in carriers of mutations in BRCA1 or BRCA2 aged less than 50 years. 17972172 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.500 GeneticVariation group BEFREE This was performed on breast tumors selected from two groups of patients: 28 proven BRCA1 germline mutation carriers; and a control group consisting of 42 breast tumors from patients with unknown BRCA1 or BRCA2 status. 12460933 2002