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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
3 records shown · first 60Genetic 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 |
|---|---|---|---|---|
| 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 |
| variant | rs1042522 | “Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).” | 0.90 | hgvs_regex_v1 |
| gene | MTHFR | “Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).” | 0.98 | hgnc_dict_v1 |
| gene | TP53 | “Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).” | 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 |
|---|---|---|---|---|
| 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 |
| variant | rs1042522 | “Additionally, the rs2250889 SNV of the MMP9 gene was significantly associated with HER2 status, whereas the TP53 SNVs rs12951053 and rs1042522 were associated with age at menarche (p-value = 0.043) and breastfeeding status (p-value = 0.013), respectively.” | 0.90 | hgvs_regex_v1 |
| 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 |
|---|---|---|---|---|
| phenotype | breast cancer | “Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs1042522 | “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)].” | 0.90 | hgvs_regex_v1 |
| gene | TP53 | “Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.” | 0.98 | hgnc_dict_v1 |
| 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 |