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STK11 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
TypeEntitySource evidenceConfidenceExtractor
variantp.R175H“A TP53 hotspot mutation (p.R175H) was identified in a patient with a personal history of gastric cancer, a malignancy associated with Li-Fraumeni syndrome.”0.95hgvs_regex_v1
geneSTK11“STK11 and DNA Repair Gene Mutations Define Hereditary Subset of Middle Eastern Papillary Thyroid Cancer.”0.98hgnc_dict_v1
geneTP53“Eleven patients (4.5%) harbored germline PVs/LPVs in cancer susceptibility genes including STK11, TP53, BRCA1, BRCA2, FANCA, SLX4, RAD50, MSH6, POLD1 and NF1.”0.98hgnc_dict_v1
geneBRCA1“Eleven patients (4.5%) harbored germline PVs/LPVs in cancer susceptibility genes including STK11, TP53, BRCA1, BRCA2, FANCA, SLX4, RAD50, MSH6, POLD1 and NF1.”0.98hgnc_dict_v1