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BRCA1 and ovarian cancer are reported together in 26 articles.
Gene
BRCA1
- HGNC
- HGNC:1100
132articles
132mentions
5variants with confirmed gene link
Most co-reported phenotypes (articles)
breast cancer 92ovarian cancer 26prostate cancer 9colorectal cancer 5diabetes mellitus 3gastric cancer 3leukemia 3lung cancer 3
Reported variants (articles · ClinVar status)
Phenotype
Ovarian cancer
173articles
173mentions
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
26 records shown · first 60Prevalence of BRCA1 and BRCA2 Germline Mutations in Western Saudi Patients with Epithelial Tubo-Ovarian Carcinoma.
PMID 42239567 | PMCID PMC13227442 | DOI 10.15537/1658-3175.8779 · Saudi medical journal · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Prevalence of BRCA1 and BRCA2 Germline Mutations in Western Saudi Patients with Epithelial Tubo-Ovarian Carcinoma.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “OBJECTIVE: Ovarian cancer represents the most lethal gynecologic malignancy, the epithelial type (EOC) being the most common.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA2 | “Prevalence of BRCA1 and BRCA2 Germline Mutations in Western Saudi Patients with Epithelial Tubo-Ovarian Carcinoma.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “BRCA-positive patients demonstrated significant associations with familial history of cancer (p < 0.001) and lower diabetes mellitus rates (p = 0.02).” | 0.98 | phenotype_alias_lexicon_v2 |
Advances in PARP Inhibition in Improving Outcomes of Breast Cancer, Ovarian Cancer, and Other Solid Tumors: Journey of Discovery, Development, and Clinical Updates of Talazoparib.
PMID 42125218 | PMCID PMC13158130 | DOI 10.2147/DDDT.S575152 · Drug design, development and therapy · 2026 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “This review describes the role of BRCA1/2 in BC and OC, highlighting key discovery milestones and providing an overview of available PARP inhibitors (PARPi) at various stages of development.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Advances in PARP Inhibition in Improving Outcomes of Breast Cancer, Ovarian Cancer, and Other Solid Tumors: Journey of Discovery, Development, and Clinical Updates of Talazoparib.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | breast cancer | “Advances in PARP Inhibition in Improving Outcomes of Breast Cancer, Ovarian Cancer, and Other Solid Tumors: Journey of Discovery, Development, and Clinical Updates of Talazoparib.” | 0.98 | phenotype_alias_lexicon_v2 |
Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.
PMID 40392379 | PMCID PMC12092876 | DOI 10.1007/s12672-025-02640-x · Discover oncology · 2025 · 13 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Overall, 34, 10, and 7 PV/LPV were identified in BRCA1, BRCA2, and other genes, respectively.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA2 | “Overall, 34, 10, and 7 PV/LPV were identified in BRCA1, BRCA2, and other genes, respectively.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “BACKGROUND: The incidence of breast cancer (BC) and ovarian cancer (OC) has increased in Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
RAD51 and PALB2 in precision oncology: Clinical implications for HRD associated breast and ovarian cancers (Review).
PMID 40613200 | PMCID PMC12270392 | DOI 10.3892/ijo.2025.5771 · International journal of oncology · 2025 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “RAD51 facilitates homology search and strand invasion, while PALB2 links BRCA1 and BRCA2, stabilizing RAD51 filaments.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Their structural and functional roles are explored in the context of breast and ovarian cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | RAD51 | “RAD51 and PALB2 in precision oncology: Clinical implications for HRD associated breast and ovarian cancers (Review).” | 0.98 | hgnc_dict_v1 |
| gene | PALB2 | “RAD51 and PALB2 in precision oncology: Clinical implications for HRD associated breast and ovarian cancers (Review).” | 0.98 | hgnc_dict_v1 |
P53 Mutation Induces Epithelial-to-Mesenchymal Transition (EMT) Associated with Stem Cell Properties and Tumorigenesis in Fallopian Tube Cells.
PMID 41154374 | PMCID PMC12564701 | DOI 10.3390/cancers17203317 · Cancers · 2025 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Mutations of TP53 and BRCA1 genes have been associated with HGSC, which has been suggested as a subtype that arises from the fallopian tube lesion called serous tubal intraepithelial carcinoma (STIC).” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Background/Objectives: Type II ovarian cancer, including high-grade serous carcinoma (HGSC), is genetically unstable and exhibits frequent mutations in the tumor suppressor genes.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | TP53 | “Mutations of TP53 and BRCA1 genes have been associated with HGSC, which has been suggested as a subtype that arises from the fallopian tube lesion called serous tubal intraepithelial carcinoma (STIC).” | 0.98 | hgnc_dict_v1 |
A rare presentation of high-grade serous ovarian carcinoma with ulcerating inguinal lymph node metastasis: a case report.
PMID 40400693 | PMCID PMC12093310 | DOI 10.1093/jscr/rjaf317 · Journal of surgical case reports · 2025 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Genetic testing identified a BRCA1 mutation, leading to adjuvant maintenance therapy with Olaparib.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “A rare presentation of high-grade serous ovarian carcinoma with ulcerating inguinal lymph node metastasis: a case report.” | 0.93 | phenotype_alias_lexicon_v2 |
Constitutional BRCA1 and MGMT Methylation Are Significant Risk Factors for Triple-Negative Breast Cancer and High-Grade Serous Ovarian Cancer in Saudi Women.
PMID 38542081 | PMCID PMC10970267 | DOI 10.3390/ijms25063108 · International journal of molecular sciences · 2024 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Constitutional BRCA1 and MGMT Methylation Are Significant Risk Factors for Triple-Negative Breast Cancer and High-Grade Serous Ovarian Cancer in Saudi Women.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Constitutional BRCA1 and MGMT Methylation Are Significant Risk Factors for Triple-Negative Breast Cancer and High-Grade Serous Ovarian Cancer in Saudi Women.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MGMT | “Constitutional BRCA1 and MGMT Methylation Are Significant Risk Factors for Triple-Negative Breast Cancer and High-Grade Serous Ovarian Cancer in Saudi Women.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Constitutional BRCA1 and MGMT Methylation Are Significant Risk Factors for Triple-Negative Breast Cancer and High-Grade Serous Ovarian Cancer in Saudi Women.” | 0.98 | phenotype_alias_lexicon_v2 |
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.
PMID 36833203 | PMCID PMC9956348 | DOI 10.3390/genes14020277 · Genes · 2023 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “As we did not find other conclusive candidates, we then performed a candidate gene approach to identify other candidate variants in genes involved in the FANCI protein interactome in OC families negative for pathogenic variants in BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, and FANCI, which identified four candidate variants.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | FANCI | “Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “As we did not find other conclusive candidates, we then performed a candidate gene approach to identify other candidate variants in genes involved in the FANCI protein interactome in OC families negative for pathogenic variants in BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, and FANCI, which identified four candidate variants.” | 0.98 | hgnc_dict_v1 |
The emerging role of MCPH1/BRIT1 in carcinogenesis.
PMID 36845691 | PMCID PMC9951231 | DOI 10.3389/fonc.2023.1047588 · Frontiers in oncology · 2023 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “The MCPH1 gene, also known as BRCT-repeat inhibitor of hTERT expression (BRIT1), has three BRCA1 carboxyl-terminal domains which is an important regulator of DNA repair, cell cycle checkpoints and chromosome condensation.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “The expression level of the MCPH1/BRIT1 gene is decreased at the DNA, RNA or protein level in a number of types of cancers including breast cancer, lung cancer, cervical cancer, prostate cancer and ovarian cancer compared to normal tissue.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MCPH1 | “The emerging role of MCPH1/BRIT1 in carcinogenesis.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “The expression level of the MCPH1/BRIT1 gene is decreased at the DNA, RNA or protein level in a number of types of cancers including breast cancer, lung cancer, cervical cancer, prostate cancer and ovarian cancer compared to normal tissue.” | 0.98 | phenotype_alias_lexicon_v2 |
Assessing frequency and clinical outcomes of BRCA mutated ovarian cancer in Saudi women.
PMID 34980015 | PMCID PMC8722352 | DOI 10.1186/s12885-021-09123-6 · BMC cancer · 2022 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “The most common deleterious germline BRCA1 mutation was c.1140dupG (39%).” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Assessing frequency and clinical outcomes of BRCA mutated ovarian cancer in Saudi women.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Riyadh | “Assessing frequency and clinical outcomes of BRCA mutated ovarian cancer in Saudi women. There are limited data from Saudi Arabia (SA); thus, this study aims to determine the frequency, pattern, and impact on patient characteristics and outcomes of BRCAm OC compared to wild-type BRCA (BRCAw) in Saudi women. CONCLUSION: The prevalence of BRCAm of OC was higher in Saudi women compared to regional and most of the international figures. TRIAL REGISTRATION: Trial approved by the Institutional Review Board of King Faisal Specialist Hospital and Research Center (RAC # 2171137) and conducted at King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11,211, Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| variant | c.1140dupG | “The most common deleterious germline BRCA1 mutation was c.1140dupG (39%).” | 0.95 | hgvs_regex_v1 |
Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.
PMID 35456503 | PMCID PMC9032308 | DOI 10.3390/genes13040697 · Genes · 2022 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA2 | “Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.” | 0.98 | hgnc_dict_v1 |
| variant | c.5407-25T>A | “Results: BRCA1 c.5407-25T>A intronic variant, identified in two affected sisters and one sporadic OC case, is predicted to create a new splice effecting transcription of BRCA1.” | 0.95 | hgvs_regex_v1 |
MicroRNA-126 expression in the peripheral white blood cells of patients with breast and ovarian cancer is a potential biomarker for the early prediction of cancer risk in the carriers of methylated BRCA1.
PMID 35782895 | PMCID PMC9247668 | DOI 10.3892/ol.2022.13396 · Oncology letters · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “MicroRNA-126 expression in the peripheral white blood cells of patients with breast and ovarian cancer is a potential biomarker for the early prediction of cancer risk in the carriers of methylated BRCA1.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “MicroRNA-126 expression in the peripheral white blood cells of patients with breast and ovarian cancer is a potential biomarker for the early prediction of cancer risk in the carriers of methylated BRCA1.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | breast cancer | “Constitutive breast cancer type 1 gene (BRCA1) promoter methylation is associated with increased cancer risk, but its role in cancer-free (CF) female carriers is incompletely understood.” | 0.98 | phenotype_alias_lexicon_v2 |
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.
PMID 34861889 | PMCID PMC8642877 | DOI 10.1186/s13073-021-00998-5 · Genome medicine · 2021 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “BACKGROUND: Familial ovarian cancer (OC) cases not harbouring pathogenic variants in either of the BRCA1 and BRCA2 OC-predisposing genes, which function in homologous recombination (HR) of DNA, could involve pathogenic variants in other DNA repair pathway genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “BACKGROUND: Familial ovarian cancer (OC) cases not harbouring pathogenic variants in either of the BRCA1 and BRCA2 OC-predisposing genes, which function in homologous recombination (HR) of DNA, could involve pathogenic variants in other DNA repair pathway genes.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | FANCI | “A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “BACKGROUND: Familial ovarian cancer (OC) cases not harbouring pathogenic variants in either of the BRCA1 and BRCA2 OC-predisposing genes, which function in homologous recombination (HR) of DNA, could involve pathogenic variants in other DNA repair pathway genes.” | 0.98 | hgnc_dict_v1 |
The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.
PMID 34298626 | PMCID PMC8305212 | DOI 10.3390/cancers13143406 · Cancers · 2021 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Multiple carriers of a limited number of pathogenic variants in BRCA1 and BRCA2, the major risk genes for hereditary breast and/or ovarian cancer syndrome families, have been identified in French Canadians, which is in stark contrast to the array of over 2000 different pathogenic variants reported in each of these genes in other populations.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA2 | “Multiple carriers of a limited number of pathogenic variants in BRCA1 and BRCA2, the major risk genes for hereditary breast and/or ovarian cancer syndrome families, have been identified in French Canadians, which is in stark contrast to the array of over 2000 different pathogenic variants reported in each of these genes in other populations.” | 0.98 | hgnc_dict_v1 |
| gene | PALB2 | “For example, multiple carriers of distinct variants were identified in PALB2 and RAD51D.” | 0.98 | hgnc_dict_v1 |
Curcumin induces re‑expression of BRCA1 and suppression of γ synuclein by modulating DNA promoter methylation in breast cancer cell lines.
PMID 32020216 | PMCID PMC7041105 | DOI 10.3892/or.2020.7473 · Oncology reports · 2020 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Curcumin induces re‑expression of BRCA1 and suppression of γ synuclein by modulating DNA promoter methylation in breast cancer cell lines.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Constitutional promoter methylation of BRCA1 DNA repair associated (BRCA1) gene is linked with a high risk of developing breast and ovarian cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SNCG | “Furthermore, hypomethylation of the proto‑oncogene γ synuclein (SNCG) is associated with the metastasis of breast and ovarian cancer and reduced disease‑free survival (DFS).” | 0.98 | hgnc_dict_v1 |
| gene | TET1 | “Curcumin‑induced hypomethylation of the BRCA1 promoter appears to be realized through the upregulation of the ten‑eleven translocation 1 (TET1) gene, whereas curcumin‑induced hypermethylation of SNCG may be realized through the upregulation of the DNA methyltransferase 3 (DNMT3) and the downregulation of TET1.” | 0.98 | hgnc_dict_v1 |
Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.
PMID 32726901 | PMCID PMC7464855 | DOI 10.3390/genes11080856 · Genes · 2020 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Soon after the discovery of BRCA1 and BRCA2 over 20 years ago, it became apparent that not all hereditary breast and/or ovarian cancer syndrome families were explained by germline variants in these cancer predisposing genes, suggesting that other such genes have yet to be discovered.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Soon after the discovery of BRCA1 and BRCA2 over 20 years ago, it became apparent that not all hereditary breast and/or ovarian cancer syndrome families were explained by germline variants in these cancer predisposing genes, suggesting that other such genes have yet to be discovered.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BARD1 | “Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “Soon after the discovery of BRCA1 and BRCA2 over 20 years ago, it became apparent that not all hereditary breast and/or ovarian cancer syndrome families were explained by germline variants in these cancer predisposing genes, suggesting that other such genes have yet to be discovered.” | 0.98 | hgnc_dict_v1 |
BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan.
PMID 33067490 | PMCID PMC7568559 | DOI 10.1038/s41598-020-74250-2 · Scientific reports · 2020 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “In this study, 192 breast cancer patients (and 8 ovarian cancer cases) were included.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA2 | “BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan.” | 0.98 | phenotype_alias_lexicon_v2 |
Genetic epidemiology of ovarian cancer in the 22 Arab countries: A systematic review.
PMID 30352249 | DOI 10.1016/j.gene.2018.10.044 · Gene · 2019 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “The total number of OC patients captured was 802; of these, 53 and five families carry 22 mutations in BRCA1/2 genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Genetic epidemiology of ovarian cancer in the 22 Arab countries: A systematic review.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA2 | “The ratio of BRCA1 (77.3%) mutations was higher than BRCA2 mutations (22.7%).” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “OC is underdiagnosed, underreported, and mostly reported with breast cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females.
PMID 30820179 | PMCID PMC6298454 | DOI 10.2478/jomb-2018-0037 · Journal of medical biochemistry · 2019 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “This study was designed to determine the frequency of three single nucleotide polymorphisms (SNPs) variants in BRCA1 gene and BRCA1 expression in Saudi females with ovarian cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | TG | “The genotype TG was significantly protective (OR = 0.36, p value = 0.024).” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females. This study was designed to determine the frequency of three single nucleotide polymorphisms (SNPs) variants in BRCA1 gene and BRCA1 expression in Saudi females with ovarian cancer.” | 0.95 | saudi_context_rules_v1 |
Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East.
PMID 30825404 | DOI 10.1002/humu.23736 · Human mutation · 2019 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA2 | “Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Germline mutations in breast cancer susceptibility gene 1 and 2 have previously been estimated to contribute to 13-18% of all epithelial ovarian cancer (EOC).” | 0.98 | phenotype_alias_lexicon_v2 |
Prevalence of BRCA mutations among hereditary breast and/or ovarian cancer patients in Arab countries: systematic review and meta-analysis.
PMID 30898109 | PMCID PMC6429759 | DOI 10.1186/s12885-019-5463-1 · BMC cancer · 2019 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “BACKGROUND: To systematically assess the prevalence of BRCA1 and BRCA2 gene mutations in women with Hereditary Breast and/or Ovarian Cancer (HBOC) in Arab countries and to describe the variability in the BRCA gene mutations in different regions of the Arab world.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Prevalence of BRCA mutations among hereditary breast and/or ovarian cancer patients in Arab countries: systematic review and meta-analysis.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA2 | “BACKGROUND: To systematically assess the prevalence of BRCA1 and BRCA2 gene mutations in women with Hereditary Breast and/or Ovarian Cancer (HBOC) in Arab countries and to describe the variability in the BRCA gene mutations in different regions of the Arab world.” | 0.98 | hgnc_dict_v1 |
High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.
PMID 29297111 | DOI 10.1007/s10549-017-4635-4 · Breast cancer research and treatment · 2018 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA2 | “High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.” | 0.98 | hgnc_dict_v1 |
| population | Population | “RESULTS: We identified a total of 17 distinct pathogenic mutations, of which four were novel, in 28 patients; nine out of 108 breast (8.3%) and 19 out of 65 ovarian cancer (29.2%) patients.” | 0.80 | saudi_context_rules_v1 |
Methylation of BRCA1 and MGMT genes in white blood cells are transmitted from mothers to daughters.
PMID 30049288 | PMCID PMC6062990 | DOI 10.1186/s13148-018-0529-5 · Clinical epigenetics · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Methylation of BRCA1 and MGMT genes in white blood cells are transmitted from mothers to daughters.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “METHODS: A total of 1014 female subjects (cancer-free women, n = 268; delivering women, n = 295; newborn females, n = 302; breast cancer patients, n = 67; ovarian cancer patients, n = 82) were screened for methylation status in white blood cells (WBC) using methylation-specific PCR and bisulfite pyrosequencing assays.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MGMT | “Methylation of BRCA1 and MGMT genes in white blood cells are transmitted from mothers to daughters.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “METHODS: A total of 1014 female subjects (cancer-free women, n = 268; delivering women, n = 295; newborn females, n = 302; breast cancer patients, n = 67; ovarian cancer patients, n = 82) were screened for methylation status in white blood cells (WBC) using methylation-specific PCR and bisulfite pyrosequencing assays.” | 0.98 | phenotype_alias_lexicon_v2 |
Main implications related to the switch to BRCA1/2 tumor testing in ovarian cancer patients: a proposal of a consensus.
PMID 29731958 | PMCID PMC5929401 | DOI 10.18632/oncotarget.24728 · Oncotarget · 2018 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Main implications related to the switch to BRCA1/2 tumor testing in ovarian cancer patients: a proposal of a consensus.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Main implications related to the switch to BRCA1/2 tumor testing in ovarian cancer patients: a proposal of a consensus.” | 0.98 | phenotype_alias_lexicon_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 | 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 |
| phenotype | ovarian cancer | “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 | phenotype_alias_lexicon_v2 |
| 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 |
| gene | ATM | “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 |
Association of BRCA2 variants with cardiovascular disease in Saudi Arabia.
PMID 24938600 | DOI 10.4238/2014.May.16.13 · Genetics and molecular research : GMR · 2014 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Abnormalities in the breast cancer tumor suppressor genes (BRCA1 and BRCA2) are associated with breast and ovarian cancer.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Abnormalities in the breast cancer tumor suppressor genes (BRCA1 and BRCA2) are associated with breast and ovarian cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BRCA2 | “Association of BRCA2 variants with cardiovascular disease in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Abnormalities in the breast cancer tumor suppressor genes (BRCA1 and BRCA2) are associated with breast and ovarian cancer.” | 0.98 | phenotype_alias_lexicon_v2 |