Advanced search

Combine gene, variant, phenotype, region and year filters

Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.

Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
About your search

BRCA2 and leukemia are reported together in 3 articles.

Gene

BRCA2

HGNC
HGNC:1101
95articles
95mentions
6variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype

Leukemia

652articles
652mentions
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 60

Omics and artificial intelligence integration for stratifying blast crisis CML using COSMIC signatures and pan-cancer precision drug repurposing.

PMID 41355924 | PMCID PMC12678951 | DOI 10.5306/wjco.v16.i11.111983 · World journal of clinical oncology · 2025 · 4 validated mentions
TypeEntitySource evidenceConfidenceExtractor
geneBRCA2“ML identified three BC-CML clusters: (1) Cluster 1 [breast cancer susceptibility gene 2 (BRCA2), TP53]; (2) Cluster 2 [isocitrate dehydrogenase (IDH) 1/2, ten-eleven translocation 2]; and (3) Cluster 3 [Janus kinase (JAK) 2, colony-stimulating factor 3 receptor], with distinct COSMIC signatures.”0.98hgnc_dict_v1
phenotypeleukemia“BACKGROUND: Although chronic-phase chronic myeloid leukemia (CP-CML) is treatable and nearly curable in about 50% of patients, accelerated-phase chronic myeloid leukemia (AP-CML) shows concerning drug resistance, while blast crisis chronic myeloid leukemia (BC-CML) is highly lethal.”0.98phenotype_alias_lexicon_v2
geneTP53“ML identified three BC-CML clusters: (1) Cluster 1 [breast cancer susceptibility gene 2 (BRCA2), TP53]; (2) Cluster 2 [isocitrate dehydrogenase (IDH) 1/2, ten-eleven translocation 2]; and (3) Cluster 3 [Janus kinase (JAK) 2, colony-stimulating factor 3 receptor], with distinct COSMIC signatures.”0.98hgnc_dict_v1
phenotypebreast cancer“ML identified three BC-CML clusters: (1) Cluster 1 [breast cancer susceptibility gene 2 (BRCA2), TP53]; (2) Cluster 2 [isocitrate dehydrogenase (IDH) 1/2, ten-eleven translocation 2]; and (3) Cluster 3 [Janus kinase (JAK) 2, colony-stimulating factor 3 receptor], with distinct COSMIC signatures.”0.98phenotype_alias_lexicon_v2
TypeEntitySource evidenceConfidenceExtractor
geneBRCA2“Three patients with B-ALL had heterozygous pathogenic mutations in TP53, BRCA1, and BRCA2; one patient with B-ALL had homozygous pathogenic mutation in PMS2; and one patient with T-ALL had LP homozygous mutation in AK2 that was associated with reticular dysgenesis.”0.98hgnc_dict_v1
phenotypeleukemia“Frequency of pathogenic/likely pathogenic germline variants in cancer-related genes among children with acute leukemia in Saudi Arabia.”0.98phenotype_alias_lexicon_v2
geneTP53“Three patients with B-ALL had heterozygous pathogenic mutations in TP53, BRCA1, and BRCA2; one patient with B-ALL had homozygous pathogenic mutation in PMS2; and one patient with T-ALL had LP homozygous mutation in AK2 that was associated with reticular dysgenesis.”0.98hgnc_dict_v1
geneBRCA1“Three patients with B-ALL had heterozygous pathogenic mutations in TP53, BRCA1, and BRCA2; one patient with B-ALL had homozygous pathogenic mutation in PMS2; and one patient with T-ALL had LP homozygous mutation in AK2 that was associated with reticular dysgenesis.”0.98hgnc_dict_v1

Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.

PMID 26968956 | DOI 10.1016/j.cancergen.2016.02.003 · Cancer genetics · 2016 · 12 validated mentions
TypeEntitySource evidenceConfidenceExtractor
geneBRCA2“Three patients presented with early onset of cancer, two had BRCA2 mutation c.7007G > A (p.Arg2336His) and one had a novel c.3425del (p.Leu1142Tyrfs*21) PALB2 mutation.”0.98hgnc_dict_v1
phenotypeleukemia“One individual with SAA and acute myeloid leukemia had c.637_643del (p.Tyr213Lysfs*6) FANCG mutation.”0.98phenotype_alias_lexicon_v2
geneBRIP1“Four patients with severe aplastic anemia (SAA) had c.2392C > T (p.Arg798*) BRIP1/FANCJ mutation.”0.98hgnc_dict_v1
geneFANCC“Another child with SAA had novel c.1475T > C (p.Leu492Pro) FANCC mutation.”0.98hgnc_dict_v1