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Combine gene, variant, phenotype, region and year filters

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Publications

2 records shown · first 60

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
TypeEntitySource evidenceConfidenceExtractor
variantrs799917“The variants investigated included c.871 T>C (rs799917), c.1040 G>A (rs4986852), c.181 T>G (rs28897672) in BRCA1 gene.”0.90hgvs_regex_v1
geneBRCA1“Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females.”0.98hgnc_dict_v1
geneTG“The genotype TG was significantly protective (OR = 0.36, p value = 0.024).”0.98hgnc_dict_v1
phenotypeovarian 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.”0.98phenotype_alias_lexicon_v2

Lack of association of BRCA1 and BRCA2 variants with breast cancer in an ethnic population of Saudi Arabia, an emerging high-risk area.

PMID 24289560 | DOI 10.7314/apjcp.2013.14.10.5671 · Asian Pacific journal of cancer prevention : APJCP · 2013 · 6 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantrs799917“TaqMan based Real Time Polymerase chain reaction genotyping assays were used to determine the frequency of single nucleotide polymorphisms in BRCA1 (rs799917) and BRCA2 (rs144848) in a group of 100 breast cancer patients and unaffected age matched controls of Saudi Arabian origin.”0.90hgvs_regex_v1
geneBRCA1“Lack of association of BRCA1 and BRCA2 variants with breast cancer in an ethnic population of Saudi Arabia, an emerging high-risk area.”0.98hgnc_dict_v1
geneBRCA2“Lack of association of BRCA1 and BRCA2 variants with breast cancer in an ethnic population of Saudi Arabia, an emerging high-risk area.”0.98hgnc_dict_v1
phenotypebreast cancer“Lack of association of BRCA1 and BRCA2 variants with breast cancer in an ethnic population of Saudi Arabia, an emerging high-risk area.”0.98phenotype_alias_lexicon_v2