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1 records shown · first 60Mutational 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 |
|---|---|---|---|---|
| variant | p.Arg1699Trp | “BRCA1 NM_007294.4:c.1140dup p.(Lys381Glufs*3), NM_007294.4:c.5095C > T p.(Arg1699Trp), NM_007294.4:c.4986 + 6 T > C (p.?), NM_007294.4:c.5251C > T p.(Arg1751*), and NM_007294.4:c.5067_5074 + 1del p.(Met1689Ilefs*3) were recurrent with NM_007294.4:c.3217_3218del p.(Gly1073*), NM_007294.4:c.5067_5074 + 1del p.(Met1689Ilefs*3), and NM_007294.4:c.5234del p.(Asn1745Thrfs*20) being novel.” | 0.95 | hgvs_regex_v1 |
| gene | BRCA1 | “Overall, 34, 10, and 7 PV/LPV were identified in BRCA1, BRCA2, and other genes, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “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 |