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Publications

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Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.

PMID 30199306 | PMCID PMC6223490 | DOI 10.1200/JGO.18.00066 · Journal of global oncology · 2018 · 7 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantc.4524G>A“The following three recurrent deleterious founder BRCA1 mutations were observed: c.4136_4137delCT was observed in five unrelated patients, c.5530delC was observed in three unrelated patients, and c.4524G>A mutations were observed in five unrelated patients.”0.95hgvs_regex_v1
geneBRCA1“Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.”0.98hgnc_dict_v1
geneBRCA2“Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.”0.98hgnc_dict_v1
phenotypebreast cancer“Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.”0.98phenotype_alias_lexicon_v2