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TP53 and breast cancer are reported together in 43 articles.
Gene
TP53
- HGNC
- HGNC:11998
219articles
219mentions
7variants with confirmed gene link
Most co-reported phenotypes (articles)
breast cancer 43colorectal cancer 32leukemia 10hepatocellular carcinoma 9ovarian cancer 6thyroid cancer 5lung cancer 4obesity 4
Reported variants (articles · ClinVar status)
Phenotype
Breast cancer
1,211articles
1,211mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
43 records shown · first 60STK11 and DNA Repair Gene Mutations Define Hereditary Subset of Middle Eastern Papillary Thyroid Cancer.
PMID 41898519 | PMCID PMC13026885 | DOI 10.3390/ijms27062656 · International journal of molecular sciences · 2026 · 16 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Eleven patients (4.5%) harbored germline PVs/LPVs in cancer susceptibility genes including STK11, TP53, BRCA1, BRCA2, FANCA, SLX4, RAD50, MSH6, POLD1 and NF1.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Notably, the BRCA1 PV detected matches a known Saudi founder mutation in hereditary breast cancer, now observed in PTC.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | STK11 | “STK11 and DNA Repair Gene Mutations Define Hereditary Subset of Middle Eastern Papillary Thyroid Cancer.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA1 | “Eleven patients (4.5%) harbored germline PVs/LPVs in cancer susceptibility genes including STK11, TP53, BRCA1, BRCA2, FANCA, SLX4, RAD50, MSH6, POLD1 and NF1.” | 0.98 | hgnc_dict_v1 |
Exome-Wide Association Analysis Identifies Rare Germline Susceptibility Variants in Early-Onset Breast Cancer Among Saudi Women.
PMID 41751868 | PMCID PMC12940663 | DOI 10.3390/ijms27041732 · International journal of molecular sciences · 2026 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “0.14% of controls; OR = 51.3; p < 1.0 × 10-10) and RPDVs in TP53 (4.9% vs.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Exome-Wide Association Analysis Identifies Rare Germline Susceptibility Variants in Early-Onset Breast Cancer Among Saudi Women.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA1 | “While BRCA1/2 explain part of the hereditary risk, the contribution of rare coding variants in Arab EOBC remains unclear.” | 0.98 | hgnc_dict_v1 |
| gene | NOTCH4 | “Sequence Kernel Association Test (SKAT) analysis identified NOTCH4 and OR12D3 and reinforced burden-based significance in GUCY2F, FRMPD3, and SHROOM2.” | 0.98 | hgnc_dict_v1 |
Clinicopathological Landscape and Survival Outcomes of HER2-Low Breast Cancer in a Large Arab Cohort.
PMID 41792988 | DOI 10.1002/wjs.70267 · World journal of surgery · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Clinicopathological characteristics, biomarker profiles (ER, PR, Ki-67), molecular alterations (PIK3CA, TP53, BRCA) and survival outcomes (overall survival (OS), cancer-specific survival (CSS), disease-free survival (DFS), and distant disease-free survival (DDFS)) were compared.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Clinicopathological Landscape and Survival Outcomes of HER2-Low Breast Cancer in a Large Arab Cohort.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PIK3CA | “Clinicopathological characteristics, biomarker profiles (ER, PR, Ki-67), molecular alterations (PIK3CA, TP53, BRCA) and survival outcomes (overall survival (OS), cancer-specific survival (CSS), disease-free survival (DFS), and distant disease-free survival (DDFS)) were compared.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “METHODS: We retrospectively analyzed 1097 Saudi breast cancer patients for HER2 status by immunohistochemistry (IHC), classifying tumors as HER2-zero (IHC 0) or HER2-low (IHC 1+/2+ and FISH-negative). CONCLUSION: In this large, ethnically homogenous Saudi cohort, HER2-low breast cancer represents a distinct molecular and clinicopathological subtype with luminal like features, yet no prognostic advantage.” | 0.95 | saudi_context_rules_v1 |
TP53 apoptosis biomarkers in breast cancer.
PMID 41135852 | DOI 10.1016/j.cca.2025.120678 · Clinica chimica acta; international journal of clinical chemistry · 2026 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “TP53 apoptosis biomarkers in breast cancer.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “TP53 apoptosis biomarkers in breast cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
Precision breast oncology: molecular insights and transformative clinical strategies.
PMID 42134177 | DOI 10.1016/j.ctarc.2026.101242 · Cancer treatment and research communications · 2026 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “The disease is driven by complex molecular mechanisms, including hormone receptor signaling, genetic mutations (e.g., TP53, BRCA), and HER2 pathways.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “BACKGROUND: Breast cancer (BC) is a highly heterogeneous malignancy originating from mammary epithelial cells and remains a leading cause of cancer-related mortality worldwide, with ∼2.3 million new cases and over 665,000-670,000 deaths annually.” | 0.98 | phenotype_alias_lexicon_v2 |
Genomic Landscape of Advanced Solid Tumors in Middle East and North Africa Using Circulating Tumor DNA in Routine Clinical Practice.
PMID 39342926 | PMCID PMC12140595 | DOI 10.1159/000541571 · Oncology · 2025 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “RESULTS: In the pan-cancer group, TP53 (58.5%), EGFR (20.4%), and KRAS (18.9%) were the most frequently mutated genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “In patients with breast cancer, PIK3CA (35.3%), ESR1 (21.7%), and BRCA1/2 (13.3%) had the most prevalent alterations among NCCN-recommended genes.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | EGFR | “RESULTS: In the pan-cancer group, TP53 (58.5%), EGFR (20.4%), and KRAS (18.9%) were the most frequently mutated genes.” | 0.98 | hgnc_dict_v1 |
| gene | KRAS | “RESULTS: In the pan-cancer group, TP53 (58.5%), EGFR (20.4%), and KRAS (18.9%) were the most frequently mutated genes.” | 0.98 | hgnc_dict_v1 |
Cohesive data analysis for the identification of prognostic hub genes and significant pathways associated with HER2 + and TN breast cancer types.
PMID 40604083 | PMCID PMC12222827 | DOI 10.1038/s41598-025-94084-0 · Scientific reports · 2025 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Ten hub genes were obtained based on maximum clique centrality (MCC), maximum neighborhood component (MNC), degree, closeness and betweenness using cytoHubba which included ACTB, ATM, ESR1, GAPDH, HNRNPK, KRAS, MDM2, SIRT1, TP53, and H3F3C (H3-5).” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Cohesive data analysis for the identification of prognostic hub genes and significant pathways associated with HER2 + and TN breast cancer types.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MCC | “Ten hub genes were obtained based on maximum clique centrality (MCC), maximum neighborhood component (MNC), degree, closeness and betweenness using cytoHubba which included ACTB, ATM, ESR1, GAPDH, HNRNPK, KRAS, MDM2, SIRT1, TP53, and H3F3C (H3-5).” | 0.98 | hgnc_dict_v1 |
| gene | ACTB | “Ten hub genes were obtained based on maximum clique centrality (MCC), maximum neighborhood component (MNC), degree, closeness and betweenness using cytoHubba which included ACTB, ATM, ESR1, GAPDH, HNRNPK, KRAS, MDM2, SIRT1, TP53, and H3F3C (H3-5).” | 0.98 | hgnc_dict_v1 |
Investigating the genetic landscape of cancer in Jordan: a step toward personalized care.
PMID 40604932 | PMCID PMC12220200 | DOI 10.1186/s40001-025-02799-7 · European journal of medical research · 2025 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Breast, colorectal, and lung cancers were the most studied, with BRCA1/2 and TP53 among the most frequently mutated genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “While somatic mutations such as KRAS and EGFR were commonly reported in tumor studies, our primary focus is on germline PSVs that may indicate population-specific genetic risks, including BRCA1 exon 11 mutations in breast cancer and p.Gly12Asp in KRAS for colorectal cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA1 | “Breast, colorectal, and lung cancers were the most studied, with BRCA1/2 and TP53 among the most frequently mutated genes.” | 0.98 | hgnc_dict_v1 |
| gene | KRAS | “While somatic mutations such as KRAS and EGFR were commonly reported in tumor studies, our primary focus is on germline PSVs that may indicate population-specific genetic risks, including BRCA1 exon 11 mutations in breast cancer and p.Gly12Asp in KRAS for colorectal cancer.” | 0.98 | hgnc_dict_v1 |
A comprehensive framework for the management of hereditary breast cancers: guiding light in precision medicine.
PMID 41049353 | PMCID PMC12492225 | DOI 10.3389/or.2025.1633387 · Oncology reviews · 2025 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “High-risk genes, including BRCA1, BRCA2, PALB2, TP53 and PTEN, with germline pathogenic or likely pathogenic variants (PVs/LPVs), substantially increase the risk of breast cancer and other malignancies.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Hereditary breast cancer (HBC), which is a significant public health concern, accounts for approximately 5%-10% of all breast cancer cases.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA1 | “High-risk genes, including BRCA1, BRCA2, PALB2, TP53 and PTEN, with germline pathogenic or likely pathogenic variants (PVs/LPVs), substantially increase the risk of breast cancer and other malignancies.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “High-risk genes, including BRCA1, BRCA2, PALB2, TP53 and PTEN, with germline pathogenic or likely pathogenic variants (PVs/LPVs), substantially increase the risk of breast cancer and other malignancies.” | 0.98 | hgnc_dict_v1 |
Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).
PMID 39837367 | DOI 10.1016/j.gene.2025.149259 · Gene · 2025 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | MTHFR | “Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).” | 0.98 | hgnc_dict_v1 |
| variant | rs1801131 | “Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).” | 0.90 | hgvs_regex_v1 |
Descriptive epidemiology of female breast cancer around the world: incidence, mortality, and sociodemographic risks and disparities.
PMID 40235222 | DOI 10.1080/09603123.2025.2492826 · International journal of environmental health research · 2025 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Besides, younger BC women are statistically more likely than older ones to have pathogenic germline variants in BC susceptibility genes (BRCA1/2, TP53, PALB2).” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Descriptive epidemiology of female breast cancer around the world: incidence, mortality, and sociodemographic risks and disparities.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA1 | “Besides, younger BC women are statistically more likely than older ones to have pathogenic germline variants in BC susceptibility genes (BRCA1/2, TP53, PALB2).” | 0.98 | hgnc_dict_v1 |
| gene | PALB2 | “Besides, younger BC women are statistically more likely than older ones to have pathogenic germline variants in BC susceptibility genes (BRCA1/2, TP53, PALB2).” | 0.98 | hgnc_dict_v1 |
Area deprivation index and breast cancer outcomes among patients in Western New York.
PMID 40544410 | PMCID PMC12259720 | DOI 10.1007/s10549-025-07733-3 · Breast cancer research and treatment · 2025 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Finally, prevalence of somatic mutations in TP53, PIK3CA, and ESR1 were higher in ADI ≥ 60.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Area deprivation index and breast cancer outcomes among patients in Western New York.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PIK3CA | “Finally, prevalence of somatic mutations in TP53, PIK3CA, and ESR1 were higher in ADI ≥ 60.” | 0.98 | hgnc_dict_v1 |
| gene | ESR1 | “Finally, prevalence of somatic mutations in TP53, PIK3CA, and ESR1 were higher in ADI ≥ 60.” | 0.98 | hgnc_dict_v1 |
Rosemary reduced estrogen receptor (ESR1) protein mediated cycle arrest and apoptosis: A potential hormonal dependent anticancer mechanism of the plant in the MCF-7 breast cancer cells.
PMID 40761051 | DOI 10.36721/PJPS.2025.38.4.REG.13514.1 · Pakistan journal of pharmaceutical sciences · 2025 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “The downregulation of ESR1 led to G0/G1 cell cycle arrest and apoptosis through the activation of downstream pathways, resulting in increased expression of TP53 and BAX, while reducing Bcl2 levels, ultimately leading to apoptosis.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Rosemary reduced estrogen receptor (ESR1) protein mediated cycle arrest and apoptosis: A potential hormonal dependent anticancer mechanism of the plant in the MCF-7 breast cancer cells.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | ESR1 | “Rosemary reduced estrogen receptor (ESR1) protein mediated cycle arrest and apoptosis: A potential hormonal dependent anticancer mechanism of the plant in the MCF-7 breast cancer cells.” | 0.98 | hgnc_dict_v1 |
| gene | BAX | “The downregulation of ESR1 led to G0/G1 cell cycle arrest and apoptosis through the activation of downstream pathways, resulting in increased expression of TP53 and BAX, while reducing Bcl2 levels, ultimately leading to apoptosis.” | 0.98 | hgnc_dict_v1 |
Omics and artificial intelligence integration for stratifying blast crisis CML using COSMIC signatures and pan-cancer precision drug repurposing.
PMID 41355924 | PMCID PMC12678951 | DOI 10.5306/wjco.v16.i11.111983 · World journal of clinical oncology · 2025 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “ML identified three BC-CML clusters: (1) Cluster 1 [breast cancer susceptibility gene 2 (BRCA2), TP53]; (2) Cluster 2 [isocitrate dehydrogenase (IDH) 1/2, ten-eleven translocation 2]; and (3) Cluster 3 [Janus kinase (JAK) 2, colony-stimulating factor 3 receptor], with distinct COSMIC signatures.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “ML identified three BC-CML clusters: (1) Cluster 1 [breast cancer susceptibility gene 2 (BRCA2), TP53]; (2) Cluster 2 [isocitrate dehydrogenase (IDH) 1/2, ten-eleven translocation 2]; and (3) Cluster 3 [Janus kinase (JAK) 2, colony-stimulating factor 3 receptor], with distinct COSMIC signatures.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA2 | “ML identified three BC-CML clusters: (1) Cluster 1 [breast cancer susceptibility gene 2 (BRCA2), TP53]; (2) Cluster 2 [isocitrate dehydrogenase (IDH) 1/2, ten-eleven translocation 2]; and (3) Cluster 3 [Janus kinase (JAK) 2, colony-stimulating factor 3 receptor], with distinct COSMIC signatures.” | 0.98 | hgnc_dict_v1 |
| phenotype | leukemia | “BACKGROUND: Although chronic-phase chronic myeloid leukemia (CP-CML) is treatable and nearly curable in about 50% of patients, accelerated-phase chronic myeloid leukemia (AP-CML) shows concerning drug resistance, while blast crisis chronic myeloid leukemia (BC-CML) is highly lethal.” | 0.98 | phenotype_alias_lexicon_v2 |
Targeting MDM2-p53 interaction for breast cancer therapy.
PMID 40191734 | PMCID PMC11964874 | DOI 10.32604/or.2025.058956 · Oncology research · 2025 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “To address this issue, advances have been made in therapies targeting molecular pathways related to the murine double minute 2 proto-oncogene (MDM2)-tumor proteinp53 (TP53) interaction.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Targeting MDM2-p53 interaction for breast cancer therapy.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MDM2 | “To address this issue, advances have been made in therapies targeting molecular pathways related to the murine double minute 2 proto-oncogene (MDM2)-tumor proteinp53 (TP53) interaction.” | 0.98 | hgnc_dict_v1 |
Radiation-induced sarcoma after radiotherapy for breast cancer: A retrospective case series.
PMID 40201139 | PMCID PMC11976226 | DOI 10.1016/j.jpra.2025.02.017 · JPRAS open · 2025 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “One patient with a TP53 mutation had the shortest latency (28 months), suggesting a possible genetic predisposition.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Radiation-induced sarcoma after radiotherapy for breast cancer: A retrospective case series.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “This case series examines four patients with RIBS at a tertiary healthcare center in Saudi Arabia, highlighting a notably short latency period and an uncommon histological pattern.” | 0.95 | saudi_context_rules_v1 |
Designing of neoepitopes based vaccine against breast cancer using integrated immuno and bioinformatics approach.
PMID 37584493 | DOI 10.1080/07391102.2023.2247081 · Journal of biomolecular structure & dynamics · 2024 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “The neoepitopes were identified from somatic mutations in the MUC16, TP53, RYR2, F5, DNAH17, ASPM, and ABCA13 self-antigenic proteins.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Designing of neoepitopes based vaccine against breast cancer using integrated immuno and bioinformatics approach.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MUC16 | “The neoepitopes were identified from somatic mutations in the MUC16, TP53, RYR2, F5, DNAH17, ASPM, and ABCA13 self-antigenic proteins.” | 0.98 | hgnc_dict_v1 |
| gene | RYR2 | “The neoepitopes were identified from somatic mutations in the MUC16, TP53, RYR2, F5, DNAH17, ASPM, and ABCA13 self-antigenic proteins.” | 0.98 | hgnc_dict_v1 |
Assessment of genome mutation analysis for tumor-informed detection of circulating tumor DNA in patients with breast cancer.
PMID 38879066 | DOI 10.1016/j.cca.2024.119818 · Clinica chimica acta; international journal of clinical chemistry · 2024 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Sanger sequencing was used to analyze peripheral blood DNA from these individuals to detect disease-causing mutations in the BRCA1, BRCA2, PTEN, TP53, and ATM genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Assessment of genome mutation analysis for tumor-informed detection of circulating tumor DNA in patients with breast cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA1 | “Sanger sequencing was used to analyze peripheral blood DNA from these individuals to detect disease-causing mutations in the BRCA1, BRCA2, PTEN, TP53, and ATM genes.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “Sanger sequencing was used to analyze peripheral blood DNA from these individuals to detect disease-causing mutations in the BRCA1, BRCA2, PTEN, TP53, and ATM genes.” | 0.98 | hgnc_dict_v1 |
Mutational Landscape and In-Silico Analysis of TP53, PIK3CA, and PTEN in Patients with Breast Cancer from Khyber Pakhtunkhwa.
PMID 38024667 | PMCID PMC10652387 | DOI 10.1021/acsomega.3c07472 · ACS omega · 2023 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Mutational Landscape and In-Silico Analysis of TP53, PIK3CA, and PTEN in Patients with Breast Cancer from Khyber Pakhtunkhwa.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Mutational Landscape and In-Silico Analysis of TP53, PIK3CA, and PTEN in Patients with Breast Cancer from Khyber Pakhtunkhwa.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PIK3CA | “Mutational Landscape and In-Silico Analysis of TP53, PIK3CA, and PTEN in Patients with Breast Cancer from Khyber Pakhtunkhwa.” | 0.98 | hgnc_dict_v1 |
| gene | PTEN | “Mutational Landscape and In-Silico Analysis of TP53, PIK3CA, and PTEN in Patients with Breast Cancer from Khyber Pakhtunkhwa.” | 0.98 | hgnc_dict_v1 |
Urachal carcinoma: The journey so far and the road ahead.
PMID 36821941 | DOI 10.1016/j.prp.2023.154379 · Pathology, research and practice · 2023 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “The TP53 mutations inactivating the tumor suppressor can probably be explored as a possible target in treating urachal carcinoma.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Additionally, certain targets identified in gastric and breast cancer along with anti-HER2 treatment strategies can be explored.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CDX2 | “Most cases show the biomarkers CK20 and CDX2, whereas CK7 and β-catenin are expressed at a lesser frequency.” | 0.98 | hgnc_dict_v1 |
Targeting p53 misfolding conundrum by stabilizing agents and their analogs in breast cancer therapy: a comprehensive computational analysis.
PMID 38269278 | PMCID PMC10806237 | DOI 10.3389/fphar.2023.1333447 · Frontiers in pharmacology · 2023 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “By using databases like UALCAN, TIMER, GEPIA, and PredictProtein, we investigated TP53's expression pattern and prognostic relevance in various cancer settings.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Targeting p53 misfolding conundrum by stabilizing agents and their analogs in breast cancer therapy: a comprehensive computational analysis.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | lung cancer | “Breast carcinoma has surpassed lung carcinoma and currently represents the chief type of cancer diagnosed (2.3 million new cases, which amount to 11.7% of all cancer cases).” | 0.93 | phenotype_alias_lexicon_v2 |
Detection of genetic mutations in patients with breast cancer from Saudi Arabia using Ion AmpliSeq™ Cancer Hotspot Panel v.2.0.
PMID 35251613 | PMCID PMC8889543 | DOI 10.3892/br.2022.1509 · Biomedical reports · 2022 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Mutations were predominantly focused on two genes, PIK3CA and TP53, in the BC genomes of the sample set.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Detection of genetic mutations in patients with breast cancer from Saudi Arabia using Ion AmpliSeq™ Cancer Hotspot Panel v.2.0.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PIK3CA | “Mutations were predominantly focused on two genes, PIK3CA and TP53, in the BC genomes of the sample set.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Detection of genetic mutations in patients with breast cancer from Saudi Arabia using Ion AmpliSeq™ Cancer Hotspot Panel v.2.0. Genomic DNA was extracted from the peripheral blood of 32 Saudi Arabian BC patients with histologically confirmed invasive BC stages I-III and IV, as well from 32 healthy Saudi Arabian women using a QIAamp® DNA Mini Kit.” | 0.95 | saudi_context_rules_v1 |
Hereditary breast cancer and fertility preservation outcomes.
PMID 35403930 | PMCID PMC9107533 | DOI 10.1007/s10815-022-02486-0 · Journal of assisted reproduction and genetics · 2022 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “RESULTS: Of 132 women with breast cancer, 40 women were found to be genetically positive (31.4%), 31 women of 40 (77.5%) had a BRCA mutation, 3 (7.5%) had ATM, 2 (5%) had CHK2, and one (2.5%) for each of the following genes: PALP2, NF, MUTYH.c.536A, and TP53.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Hereditary breast cancer and fertility preservation outcomes.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | ATM | “RESULTS: Of 132 women with breast cancer, 40 women were found to be genetically positive (31.4%), 31 women of 40 (77.5%) had a BRCA mutation, 3 (7.5%) had ATM, 2 (5%) had CHK2, and one (2.5%) for each of the following genes: PALP2, NF, MUTYH.c.536A, and TP53.” | 0.98 | hgnc_dict_v1 |
| gene | MUTYH | “RESULTS: Of 132 women with breast cancer, 40 women were found to be genetically positive (31.4%), 31 women of 40 (77.5%) had a BRCA mutation, 3 (7.5%) had ATM, 2 (5%) had CHK2, and one (2.5%) for each of the following genes: PALP2, NF, MUTYH.c.536A, and TP53.” | 0.98 | hgnc_dict_v1 |
ONCOLYTIC ACTIVITY OF HUMAN ORTHOPNEUMOVIRUS IN CANCER CELL LINES.
PMID 35964639 | DOI 10.32471/exp-oncology.2312-8852.vol-44-no-2.18084 · Experimental oncology · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “The relative expression of apoptosis-related genes (CASP-3, -8, -9, Bax, Bcl-2, Bcl-XL, TP53, P21) during virus infection was estimated using rRT-PCR assay in comparison with the house-keeping gene (GAPDH).” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “AIM: This study was designed to elucidate the possible role of hOPV in the modulation of cell growth and apoptosis in cancer cell lines including human epidermoid carcinoma (HEp-2), lung epithelial cell line (A549), and breast cancer cell line (MCF-7).” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | GAPDH | “The relative expression of apoptosis-related genes (CASP-3, -8, -9, Bax, Bcl-2, Bcl-XL, TP53, P21) during virus infection was estimated using rRT-PCR assay in comparison with the house-keeping gene (GAPDH).” | 0.98 | hgnc_dict_v1 |
Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.
PMID 33868589 | PMCID PMC8021026 | DOI 10.18632/oncotarget.27909 · Oncotarget · 2021 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Among the genes analyzed, the highest mutation rates were found in PIK3CA (12.9%), BRCA2 (11.7%), BRCA1 (10.2%), TP53 (6.0%), MSH2 (3.8%), PMS2 (3.8%), BARD1 (3.8%), MLH1 (3.4%), CDH1 (3.0%), RAD50 (3.0%), MSH6 (3.0%), NF1 (2.6%), in addition to others.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PIK3CA | “Among the genes analyzed, the highest mutation rates were found in PIK3CA (12.9%), BRCA2 (11.7%), BRCA1 (10.2%), TP53 (6.0%), MSH2 (3.8%), PMS2 (3.8%), BARD1 (3.8%), MLH1 (3.4%), CDH1 (3.0%), RAD50 (3.0%), MSH6 (3.0%), NF1 (2.6%), in addition to others.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “Among the genes analyzed, the highest mutation rates were found in PIK3CA (12.9%), BRCA2 (11.7%), BRCA1 (10.2%), TP53 (6.0%), MSH2 (3.8%), PMS2 (3.8%), BARD1 (3.8%), MLH1 (3.4%), CDH1 (3.0%), RAD50 (3.0%), MSH6 (3.0%), NF1 (2.6%), in addition to others.” | 0.98 | hgnc_dict_v1 |
Murine Double Minute 2 Gene (MDM2) rs937283A/G variant significantly increases the susceptibility to breast cancer in Saudi Women.
PMID 33911942 | PMCID PMC8071807 | DOI 10.1016/j.sjbs.2021.01.020 · Saudi journal of biological sciences · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “TP53 and its inhibitor the murine double minute 2 (MDM2) genes encode proteins that have crucial functions in the DNA damage response.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Murine Double Minute 2 Gene (MDM2) rs937283A/G variant significantly increases the susceptibility to breast cancer in Saudi Women.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MDM2 | “Murine Double Minute 2 Gene (MDM2) rs937283A/G variant significantly increases the susceptibility to breast cancer in Saudi Women.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Murine Double Minute 2 Gene (MDM2) rs937283A/G variant significantly increases the susceptibility to breast cancer in Saudi Women. In the present case-control study, the association of MDM2 rs937283A/G polymorphism and breast cancer susceptibility in Saudi women with samples of 137 breast cancer patients, and 98 healthy controls were explored. The results revealed that rs937283A/G variant is significantly increases the risk of breast cancer in Saudi women (p-value = 0.0078). Positive association between increased breast cancer risk and rs937283 variant in premenopausal Saudi women, below 50 years of age, was demonstrated (p-value = 0.0023). Collectively, MDM2 rs937283A/G polymorphism could act as a possible biomarker for breast cancer susceptibility in Saudi women.” | 0.95 | saudi_context_rules_v1 |
Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients.
PMID 34906214 | PMCID PMC8670057 | DOI 10.1186/s13053-021-00206-w · Hereditary cancer in clinical practice · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA1 | “All the patients carrying TP53 mutations were negative for BRCA1 and BRCA2 mutations.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “All the patients carrying TP53 mutations were negative for BRCA1 and BRCA2 mutations.” | 0.98 | hgnc_dict_v1 |
Clinical Features of Breast Cancer in South Korean Patients with Germline TP53 Gene Mutations.
PMID 33818021 | PMCID PMC8090805 | DOI 10.4048/jbc.2021.24.e16 · Journal of breast cancer · 2021 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Clinical Features of Breast Cancer in South Korean Patients with Germline TP53 Gene Mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Clinical Features of Breast Cancer in South Korean Patients with Germline TP53 Gene Mutations.” | 0.98 | phenotype_alias_lexicon_v2 |
Targeted sequencing of crucial cancer causing genes of breast cancer in Saudi patients.
PMID 32994724 | PMCID PMC7499116 | DOI 10.1016/j.sjbs.2020.05.047 · Saudi journal of biological sciences · 2020 · 15 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Out of these, most mutations were observed in TP53.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Targeted sequencing of crucial cancer causing genes of breast cancer in Saudi patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA1 | “We identified a total of 14 point mutations and one deletion in BRCA1, BRCA2, and RAD50 genes from the BRCA panel analysis of breast cancer samples.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “We identified a total of 14 point mutations and one deletion in BRCA1, BRCA2, and RAD50 genes from the BRCA panel analysis of breast cancer samples.” | 0.98 | hgnc_dict_v1 |
Anastatica hierochuntica (L.) methanolic and aqueous extracts exert antiproliferative effects through the induction of apoptosis in MCF-7 breast cancer cells.
PMID 32792843 | PMCID PMC7414070 | DOI 10.1016/j.jsps.2020.06.020 · Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2020 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “In addition, the most pro-apoptotic extracts, ASD and ML, up-regulated the expression of pro-apoptotic Bax, tumor suppressor TP53 genes and the cyclin inhibitor CDKN1A gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Anastatica hierochuntica (L.) methanolic and aqueous extracts exert antiproliferative effects through the induction of apoptosis in MCF-7 breast cancer cells.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CDKN1A | “In addition, the most pro-apoptotic extracts, ASD and ML, up-regulated the expression of pro-apoptotic Bax, tumor suppressor TP53 genes and the cyclin inhibitor CDKN1A gene.” | 0.98 | hgnc_dict_v1 |
The molecular mechanisms underlying reduced E-cadherin expression in invasive ductal carcinoma of the breast: high throughput analysis of large cohorts.
PMID 30760857 | DOI 10.1038/s41379-019-0209-9 · Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2019 · 19 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “CDH1 copy number was associated with copy number loss of TP53, ATM, BRCA1, and BRCA2 (p < 0.001).” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “E-cadherin is a tumor suppressor gene in invasive lobular breast cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CDH1 | “CDH1 copy number loss was in 21% of invasive ductal carcinoma, which also showed low CDH1 mRNA expression (p = 0.003).” | 0.98 | hgnc_dict_v1 |
| gene | BRCA1 | “CDH1 copy number was associated with copy number loss of TP53, ATM, BRCA1, and BRCA2 (p < 0.001).” | 0.98 | hgnc_dict_v1 |
Correlation between Candidate Single Nucleotide Variants and Several Clinicopathological Risk Factors Related to Breast Cancer in Jordanian Women: A Genotype-Phenotype Study.
PMID 31528229 | PMCID PMC6746117 | DOI 10.7150/jca.33857 · Journal of Cancer · 2019 · 16 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “This study aim to investigate the association of breast cancer risk and prognostic factors with single nucleotide variants of the BRCA1, BRCA2, DAPK1, MMP9, TOX3, and TP53 genes in Jordanian women.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Correlation between Candidate Single Nucleotide Variants and Several Clinicopathological Risk Factors Related to Breast Cancer in Jordanian Women: A Genotype-Phenotype Study.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA1 | “This study aim to investigate the association of breast cancer risk and prognostic factors with single nucleotide variants of the BRCA1, BRCA2, DAPK1, MMP9, TOX3, and TP53 genes in Jordanian women.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “This study aim to investigate the association of breast cancer risk and prognostic factors with single nucleotide variants of the BRCA1, BRCA2, DAPK1, MMP9, TOX3, and TP53 genes in Jordanian women.” | 0.98 | hgnc_dict_v1 |
Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.
PMID 30796655 | PMCID PMC6533225 | DOI 10.1007/s10549-019-05168-1 · Breast cancer research and treatment · 2019 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.817C>T | “The latter included a deleterious missense mutation, c.817C>T (p.Arg273Cys), in a unique patient, and the common and functionally relevant coding polymorphism at amino acid 72 [Pro72Arg (rs1042522)].” | 0.95 | hgvs_regex_v1 |
| variant | p.Arg273Cys | “The latter included a deleterious missense mutation, c.817C>T (p.Arg273Cys), in a unique patient, and the common and functionally relevant coding polymorphism at amino acid 72 [Pro72Arg (rs1042522)].” | 0.95 | hgvs_regex_v1 |
Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.
PMID 31477031 | PMCID PMC6721087 | DOI 10.1186/s12881-019-0881-0 · BMC medical genetics · 2019 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “METHODS: We have utilized a cost-effective targeted sequencing approach of high priority actionable BC genes (BRCA1, BRCA2, ERBB2 and TP53) in a homogeneous patient cohort from Bangladesh (n = 52) by using tumor and blood samples.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA1 | “METHODS: We have utilized a cost-effective targeted sequencing approach of high priority actionable BC genes (BRCA1, BRCA2, ERBB2 and TP53) in a homogeneous patient cohort from Bangladesh (n = 52) by using tumor and blood samples.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “METHODS: We have utilized a cost-effective targeted sequencing approach of high priority actionable BC genes (BRCA1, BRCA2, ERBB2 and TP53) in a homogeneous patient cohort from Bangladesh (n = 52) by using tumor and blood samples.” | 0.98 | hgnc_dict_v1 |
Evaluation of lapatinib cytotoxicity and genotoxicity on MDA-MB-231 breast cancer cell line.
PMID 31234033 | DOI 10.1016/j.etap.2019.103207 · Environmental toxicology and pharmacology · 2019 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “We investigated the cytotoxicity of lapatinib by MTT assay, mode of cell death using apoptosis-necrosis assay, DNA damage using micronucleus test, EGFR protein expression by immunocytochemistry, and assessed its effect on EGFR (7p11.2 locus) and TP53 (17p13 locus) genes using interphase-FISH technique.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Evaluation of lapatinib cytotoxicity and genotoxicity on MDA-MB-231 breast cancer cell line.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | EGFR | “We investigated the cytotoxicity of lapatinib by MTT assay, mode of cell death using apoptosis-necrosis assay, DNA damage using micronucleus test, EGFR protein expression by immunocytochemistry, and assessed its effect on EGFR (7p11.2 locus) and TP53 (17p13 locus) genes using interphase-FISH technique.” | 0.98 | hgnc_dict_v1 |
Comprehensive molecular biomarker identification in breast cancer brain metastases.
PMID 29287594 | PMCID PMC5747948 | DOI 10.1186/s12967-017-1370-x · Journal of translational medicine · 2017 · 45 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Important cancer genes affected by CNVs included TP53, BRCA1, BRCA2, ERBB2, IDH1, and IDH2.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Comprehensive molecular biomarker identification in breast cancer brain metastases.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BCL3 | “RESULTS: The top 370 probe sets that were differentially expressed between BCBM and both BC and prBT were in the majority comparably overexpressed in BCBM and included, e.g. the coding genes BCL3, BNIP3, BNIP3P1, BRIP1, CASP14, CDC25A, DMBT1, IDH2, E2F1, MYCN, RAD51, RAD54L, and VDR.” | 0.98 | hgnc_dict_v1 |
| gene | BNIP3 | “RESULTS: The top 370 probe sets that were differentially expressed between BCBM and both BC and prBT were in the majority comparably overexpressed in BCBM and included, e.g. the coding genes BCL3, BNIP3, BNIP3P1, BRIP1, CASP14, CDC25A, DMBT1, IDH2, E2F1, MYCN, RAD51, RAD54L, and VDR.” | 0.98 | hgnc_dict_v1 |
Clinical significance of TP53 (R72P) and MDM2 (T309G) polymorphisms in breast cancer patients.
PMID 26553387 | DOI 10.1007/s12094-015-1425-5 · Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2016 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Clinical significance of TP53 (R72P) and MDM2 (T309G) polymorphisms in breast cancer patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Clinical significance of TP53 (R72P) and MDM2 (T309G) polymorphisms in breast cancer patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MDM2 | “Clinical significance of TP53 (R72P) and MDM2 (T309G) polymorphisms in breast cancer patients.” | 0.98 | hgnc_dict_v1 |
| variant | R72P | “Clinical significance of TP53 (R72P) and MDM2 (T309G) polymorphisms in breast cancer patients.” | 0.82 | literature_variant_regex_v2 |
A Comparative Analysis of Breast and Ovarian Cancer-related Gene Mutations in Canadian and Saudi Arabian Patients with Breast Cancer.
PMID 25964535 · Anticancer research · 2015 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “The most frequently mutated gene in both populations was the BRCA2 gene, followed by BRCA1 and TP53.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “A Comparative Analysis of Breast and Ovarian Cancer-related Gene Mutations in Canadian and Saudi Arabian Patients with Breast Cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA1 | “In the present study, breast tumor samples from Canadian and Saudi Arabian patients were screened for known and unknown mutations within BRCA1 and BRCA2 as well as 21 additional genes, including, ATM, BARD1, CDH1, P53, EPCAM, MSH6, and RAD50, which have been implicated in breast and ovarian cancer predisposition.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “In the present study, breast tumor samples from Canadian and Saudi Arabian patients were screened for known and unknown mutations within BRCA1 and BRCA2 as well as 21 additional genes, including, ATM, BARD1, CDH1, P53, EPCAM, MSH6, and RAD50, which have been implicated in breast and ovarian cancer predisposition.” | 0.98 | hgnc_dict_v1 |
Increased TNF α, IL-6 and ErbB2 mRNA expression in peripheral blood leukocytes from breast cancer patients.
PMID 24961464 | DOI 10.1007/s12032-014-0038-0 · Medical oncology (Northwood, London, England) · 2014 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Therefore, have investigated whether or not the expression levels, of selected genes [tumor necrosis factor-α (TNFα), interleukin 6 (IL-6), adiponectin, leptin, C-reactive protein (CRP), parathyroid hormone (PTH), tumor protein 53 (TP53) and erythroblastic leukemia viral oncogene 2 (ErbB2)] were altered in blood samples of lean, overweight/obese and breast cancer subjects.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Increased TNF α, IL-6 and ErbB2 mRNA expression in peripheral blood leukocytes from breast cancer patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | TNF | “Increased TNF α, IL-6 and ErbB2 mRNA expression in peripheral blood leukocytes from breast cancer patients.” | 0.98 | hgnc_dict_v1 |
| gene | CRP | “Therefore, have investigated whether or not the expression levels, of selected genes [tumor necrosis factor-α (TNFα), interleukin 6 (IL-6), adiponectin, leptin, C-reactive protein (CRP), parathyroid hormone (PTH), tumor protein 53 (TP53) and erythroblastic leukemia viral oncogene 2 (ErbB2)] were altered in blood samples of lean, overweight/obese and breast cancer subjects.” | 0.98 | hgnc_dict_v1 |
A single-nucleotide polymorphism in the TP53 and MDM-2 gene modifies breast cancer risk in an ethnic Arab population.
PMID 21477265 | DOI 10.1111/j.1472-8206.2011.00939.x · Fundamental & clinical pharmacology · 2012 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “A single-nucleotide polymorphism in the TP53 and MDM-2 gene modifies breast cancer risk in an ethnic Arab population.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “A single-nucleotide polymorphism in the TP53 and MDM-2 gene modifies breast cancer risk in an ethnic Arab population.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MDM2 | “The tumor suppressor TP53 and its negative regulator MDM2 play crucial roles in carcinogenesis.” | 0.98 | hgnc_dict_v1 |
| gene | TG | “We found an increased breast cancer risk associated with the MDM2 GG [odds ratio (OR) = 2.79, 95% confidence interval (CI) = 2.04-3.92] and TG [OR = 1.43, 95% CI = 1.12-2.02] genotypes.” | 0.98 | hgnc_dict_v1 |
The p53 codon 72 polymorphism is associated with risk and early onset of breast cancer among Saudi women.
PMID 22741010 | PMCID PMC3362654 | DOI 10.3892/ol.2012.581 · Oncology letters · 2012 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “Owing to the importance of the TP53 gene in breast carcinogenesis, we analyzed the possible link between TP53 single nucleotide polymorphisms (SNPs) and the risk of breast cancer in Saudi women by direct sequencing of the TP53 gene exon 4 from 100 breast cancer tissues.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “The p53 codon 72 polymorphism is associated with risk and early onset of breast cancer among Saudi women.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “The p53 codon 72 polymorphism is associated with risk and early onset of breast cancer among Saudi women. In the Kingdom of Saudi Arabia (KSA), breast cancer incidence is on the increase and is characterized by early onset and aggressiveness. Owing to the importance of the TP53 gene in breast carcinogenesis, we analyzed the possible link between TP53 single nucleotide polymorphisms (SNPs) and the risk of breast cancer in Saudi women by direct sequencing of the TP53 gene exon 4 from 100 breast cancer tissues. The proportion of the polymorphic forms of SNP72 in the Saudi breast cancer patients were: Arg/Arg (RR), 39%; Pro/Pro (PP), 36%; and Arg/Pro (RP), 25%. The frequencies of these forms in disease-free Saudi women were 7.59, 22.22 and 60.19%, respectively. This indicates that the RR form of the codon 72 polymorphism is a potential risk factor, whereas the RP form is a protection factor against breast cancer among Saudi women (p=0.0001). Moreover, the results have shown that the p53 R72P SNP is significantly associated with the early onset of breast cancer in the Saudi population (p=0.0138). However, the codon 47 polymorphism appears to have no role in this disease among Saudi women. These results indicate that the TP53 gene could play a major role in breast carcinogenesis and the early onset of the disease among Saudi women.” | 0.95 | saudi_context_rules_v1 |
TP53 genetic alterations in Arab breast cancer patients: Novel mutations, pattern and distribution.
PMID 22866089 | PMCID PMC3410563 | DOI 10.3892/ol.2011.236 · Oncology letters · 2011 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “TP53 genetic alterations in Arab breast cancer patients: Novel mutations, pattern and distribution.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “TP53 genetic alterations in Arab breast cancer patients: Novel mutations, pattern and distribution.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “In the Kingdom of Saudi Arabia (KSA) breast cancer has shown an increase in incidence and is characterized by early onset and aggressiveness.” | 0.95 | saudi_context_rules_v1 |
Induction of p53 and p21 proteins by gamma radiation in skin fibroblasts derived from breast cancer patients.
PMID 14751518 | DOI 10.1016/j.ijrobp.2003.09.062 · International journal of radiation oncology, biology, physics · 2004 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TP53 | “PURPOSE: To test the hypothesis that breast cancer patients could have a predisposing defect in the induction of TP53 tumor suppressor protein (known as p53) that could be a marker of genetic instability and increased cancer susceptibility.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Induction of p53 and p21 proteins by gamma radiation in skin fibroblasts derived from breast cancer patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CDKN1A | “The accumulation of p53 was triggered by ionizing radiation, and its transcriptional activity was estimated from the induction of CDKN1A (known as p21).” | 0.98 | hgnc_dict_v1 |