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Gene Pair Information

Gene Pair: TP53, BRCA1

Related Sentences

# PMID Sentence
1 7891376 There are, however, at least three loci known to be associated with familial breast cancer (p53, BRCA1, and an as yet unpublished locus) and the frequencies and penetrances of these genes are not likely to be the same.
2 7999429 One such gene (p53) has been identified and a second (BRCA1) has been precisely mapped in the human genome, but further breast cancer predisposition genes remain to be identified.
3 9171368 Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos.
4 9171368 Mutations of the human BRCA1 and BRCA2 genes encoding tumor suppressors have been implicated in inherited predisposition to breast and other cancers.
5 9171368 Disruption of the homologous mouse genes Brca1 and Brca2 by targeting showed that they both have indispensable roles during embryogenesis, because nullizygous embryos become developmentally retarded and disorganized, and die early in development.
6 9171368 In Brca1 mutants, the onset of abnormalities is earlier by one day and their phenotypic features and time of death are highly variable, whereas the phenotype of Brca2 null embryos is more uniform, and they all survive for at least 8.5 embryonic days.
7 9171368 Observations with Brca1/Brca2 double nullizygotes raise the possibility that the two developmental pathways could be linked.
8 9171368 Interestingly, the impact of the Brca1 or Brca2 null mutation is less severe in a p53 null background.
9 9212093 Double indemnity: p53, BRCA and cancer. p53 mutation partially rescues developmental arrest in Brca1 and Brca2 null mice, suggesting a role for familial breast cancer genes in DNA damage repair.
10 9535786 Decreased BRCA1 expression levels may arrest the cell cycle through activation of p53 checkpoint in human sporadic breast tumors.
11 9535786 We also investigated possible relationships between BRCA1, p53, mdm-2 and p21(WAF1/CIP1) at the expression level. p53 expression was unaffected in almost all the specimens, mdm-2 was overexpressed in 18/35 specimens while 21/35 overexpressed p21.
12 9535786 Samples exhibiting reduced BRCA1 levels simultaneously overexpressed both p21 and mdm-2, showing that BRCA1, at certain levels, even reduced up to 2.7-fold, is functional and sufficient to upregulate p21, when p53 activity is inhibited by its negative regulator, the mdm-2.
13 9535786 On the contrary, specimens exhibiting more than 2.7-fold reduced BRCA1 levels, overexpressed p21 while mdm-2 expression was normal, allowing us to speculate that p21 transcriptional activation is due to p53 activity, in cases with dramatically decreased BRCA1 expression.
14 9535786 Our findings provide evidence, indicating that BRCA1 might affect cell cycle regulation and loss of BRCA1 function due to decreased expression leads to cell cycle arrest, through p53 and p21 genes.
15 10070948 Frequency of p53 mutations in breast carcinomas from Ashkenazi Jewish carriers of BRCA1 mutations.
16 10919664 The rationale underlying this hypothesis is derived from the clues provided by family breast cancer syndromes, in which susceptibility genes, including p53, ATM, BRCA1 and BRCA2, are involved within the common functional pathway of DSB-related checkpoint/ repair.
17 10919664 Support for our hypothesis comes from the observations that: (a) the extent of DSB-initiated CIN in tumors significantly increased as tumors progressed to poorer grades or later stages; (b) in the sequential steps toward CIN, the loci of p53 and ATM, the key checkpoint genes against DSB, were lost at the earliest stage; and (c) many loci identified to be important in breast tumorigenesis were the genomic sites possibly harboring the genes involved in DSB-related checkpoint/repair (including RAD51, RAD52, and BRCA1) or CIN (including FA-A, FA-D, and WRN), and a higher number of these loci showing LOH was significantly associated with increased level of DSB-initiated CIN (P < 0.0001).
18 11004669 Association between loss of heterozygosity of BRCA1 and BRCA2 and morphological attributes of sporadic breast cancer.
19 11004669 Germline mutations in the breast cancer-associated genes BRCA1 and BRCA2 confer a lifetime risk of malignancy.
20 11004669 We studied a series of 120 sporadic breast carcinomas using microsatellite markers to identify LOH of BRCA1, BRCA2, p53 and PTEN.
21 11004669 LOH of the 4 loci did not occur independently; there were highly significant associations between LOH of BRCA1 and both BRCA2 (p < 0.001) and p53 (p < 0.001).
22 11004687 Loss of heterozygosity (LOH) at p53 is correlated with LOH at BRCA1 and BRCA2 in various human malignant tumors.
23 11102977 High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer.
24 11102977 Germ-line mutations in BRCA1 and BRCA2 genes result in a significantly increased risk of breast and ovarian cancer.
25 11102977 Twelve families (25.5%) carried known BRCA1 mutations (5382insC and C61G), four families (8.5%) carried novel BRCA2 mutations (9631delC and 6886delGAAAA), and one family (2%) harbored novel mutation 1095del8 in the TP53 gene, which is the largest germline deletion in coding sequence of this gene identified thus far.
26 11102977 The 5382insC mutation in BRCA1 was found in 11 families and the 9631delC mutation in BRCA2 occurred in three families.
27 11250681 Extensive studies of BRCA1- and BRCA2-associated breast tumours have been carried out in the few years since the identification of these familial breast cancer predisposing genes.
28 11250681 The morphological studies suggest that BRCA1 tumours differ from BRCA2 tumours and from sporadic breast cancers.
29 11250681 Studies to date have investigated issues such as steroid hormone receptor expression, mutation status of tumour suppressor genes TP53 and c-erbB2, and expression profiles of cell cycle proteins p21, p27 and cyclin D1.
30 11250681 BRCA1-associated tumours appear to show an increased frequency of TP53 mutations, frequent p53 protein stabilization and absence of imunoreactivity for steroid hormone receptors.
31 11250681 Further studies of larger number of samples of both BRCA1- and BRCA2-associated tumours are necessary to clarify and confirm these observations.
32 11250690 Genes that are mutated or deleted in cancers include the cancer susceptibility genes p53 and BRCA1.
33 11250690 Both p53 and BRCA1 appear to inhibit cancer cells that lack mutations in these genes, suggesting that the so-called gene correction strategies may have broader potential than initially believed.
34 11250690 Initial patient trials of p53 and BRCA1 gene therapy have provided some indications of potential efficacy, but have also identified areas of basic and clinical research that are needed before these approaches may be widely used in patient care.
35 11358831 TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: distinctive spectrum and structural distribution.
36 11358831 By combining several such studies, we show in this study that somatic TP53 abnormalities are more common in breast cancer associated with BRCA1 or BRCA2 germ-line mutations than in sporadic breast cancers (odds ratio, 2.8; P = 0.0003).
37 11358831 Then, we compared the spectrum of TP53 mutations for breast cancers in the IARC TP53 mutation database with the 82 mutations reported in BRCA1/2-associated breast cancers.
38 11358831 Structural modeling showed that most of these p53 non-hotspot amino acids characterized in breast tumors isolated from patients with deficient BRCA1/2 function are distributed in a region of the protein on the opposite side of the p53 DNA-binding surface.
39 11358831 Our results suggest that BRCA1/2 mutations influence the type and distribution of TP53 mutations seen in breast cancer.
40 33727227 The expression of <i>TP53</i> and <i>BRCA1</i> was decreased in luminal progenitor cells from normal breast tissue in <i>BRCA1</i> mutation carriers, which might trigger the basal/mesenchymal transition of luminal progenitors and might result in basal-like tumor development.
41 34933735 Also, MLH3 is a DNA mismatch repair gene and mutation in this gene is harmful in different cancers.
42 34933735 We identified 26 variants in breast cancer patients, 22 inherited variants were found in MLH3, CHECK2, BRCA1, BRCA2, BLM, TP53, MSH6, NBN and PTEN genes and 4 somatic variants were found in PALB2, RAD50 and RBM10 genes.
43 35026309 To further evaluate patient response to platinum and screen for the optimal population to benefit from platinum, we will also analyze current potential biomarkers, such as breast cancer susceptibility genes (BRCA1/2), homologous recombination repair deficiency (HRD), tumor infiltrating lymphocytes (TILs), TP53 family and other emerging indicators (e.g., intrinsic subtype, cyclin-dependent kinase 2 (CDK2) expression, vascular endothelial growth factor (VEGF) and matrix metalloproteinase-9 (MMP-9)).
44 35180531 Comparison of mutational profiles between triple-negative and hormone receptor-positive/human epidermal growth factor receptor 2-negative breast cancers in T2N0-1M0 stage: Implications of TP53 and PIK3CA mutations in Korean early-stage breast cancers.
45 35180531 Therefore, we compared the mutation profiles of early TNBC with those of hormone receptor-positive (HR+) and/or human epidermal growth factor receptor 2-negative (HER2-) breast cancer using a customized next-generation sequencing capture panel.
46 35180531 Significant mutations were found in TP53, PIK3CA, AR, BRCA1, PTEN, BRCA2, BRIP2, KIT, MET, AKT1, ALK, BARD1, BRAF, CD274, ERBB2, FGFR1, IDH2, NOTCH1, RET, and STK11 (in descending order of occurrence).
47 35180531 TP53 mutations were identified in the TNBC group more frequently than in the HR+/HER2- group (P = 0.003).
48 35180531 The presence of TP53 mutations was associated with a higher tumor grade (P = 0.008), p53 positivity (P &lt; 0.0001), and a higher Ki-67 index (P = 0.004).
49 35180531 PIK3CA was the most frequently mutated gene in HR+/HER2- breast cancer (8/22, 36.4%), but not in TNBC (1/12, 8.3%).
50 35180531 The TP53 mutation is associated with higher tumor grade and Ki-67 expression in both groups, and with larger tumor size in TNBC, but not in HR+/HER2- breast cancer.
51 12195423 Mutations in the TP53 tumor-suppressor gene are found in 70-80% of BRCA1-mutated breast cancer but only 30% of those with wildtype BRCA1 (ref. 3).
52 12195423 Here we show that BRCA1 specifically enhances the GGR pathway, independent of p53, and can induce p53-independent expression of the NER genes XPC, DDB2, and GADD45.
53 17292821 BRCA1 and BRCA2 mutations confer very high risks of breast and ovarian cancer. p53 and PTEN mutations lead to very high breast cancer risks associated with rare cancer syndromes.
54 17292821 Mutations in CHEK2, ATM, NBS1, RAD50, BRIP1, and PALB2 are associated with doubling of breast cancer risks.
55 17292821 In addition, biallelic mutations in BRCA2, BRIP1, and PALB2 cause Fanconi anemia.
56 37818839 PRIMA-1 synergizes olaparib-induced cell death in p53 mutant triple negative human breast cancer cell line via restoring p53 function, arresting cell cycle, and inducing apoptosis.
57 37818839 This study concerned with assessing the effect of restoring p53 using PRIMA-1 on the anti-cancer activity of olaparib against TP53-mutant triple negative breast cancer (TNBC) cells and exploring the optimum synergistic concentrations and the underlying mechanism.
58 37818839 Human BC cell lines, MDA-MB-231 with mutated TP53 gene, and MCF-7 with wild-type TP53 gene were treated with olaparib and/or PRIMA-1.
59 37818839 This synergistic apoptotic effect was associated with a significant boost in mRNA expression of TP53 gene, cell cycle arrest at G2/M phase, modulation of BRCA-1, BAX and Bcl2 proteins expressions, and induction of active caspase-3.
60 37818839 These results present a clue for the utility of combined olaparib and PRIMA-1 in treatment of TP53-mutant TNBC invitro.
61 37818839 PRIMA-1 triggers olaparib-induced MDA-MB-231 cell death in a synergistic manner via restoring TP53, decreasing BRCA-1 expression, cell cycle arrest, and enhancement of apoptosis via p53/BAX/Bcl2/caspase 3 pathway.