Breast cancer | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
BREAST CARCINOMA	EFO_0000305	BRCA2	Causal	23535729 23535733 25751625 27117709 27197191 29058716 29059683 34290314	GWAS catalog	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
		CHEK2	Causal	25751625 29059683 32887889 38538606	GWAS catalog	Cell cycle p53 signaling pathway Cellular senescence +9 more
		PALB2	Causal	34290314 34594039	GWAS catalog	Homologous recombination Fanconi anemia pathway HDR through Homologous Recombination (HRR) +3 more
		TP53	Causal	28346444 32424353 32887889	GWAS catalog	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
FAMILIAL CANCER OF BREAST		ATM	Causal	—	ClinVar	Platinum drug resistance Homologous recombination NF-kappa B signaling pathway +33 more
		BARD1	Causal	—	ClinVar	Homologous recombination HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) +11 more
		BRCA1	Causal	23867111 12938098 12569143 11139248 12373604 16793542 8640237 14983014 18285836 9609997 7894493 14684699 12023982 8776600 11149425 11241844 11301010 28319063 9971877 12442274 9150152 10399947 23108138 23242139 22241545 17287723 12442275 14722926 15026808	ClinVar	Platinum drug resistance Homologous recombination Fanconi anemia pathway +19 more
		BRCA2	Causal	9609997 11114888 7545954 8554067 10323242 14684699 11948477 25539919 20624954 16353168 15133502 8776600 12023982 12938098 7894493 25105795 18285836 7939630 12442275 11301010 22357538 15365993 10978364 15026808 14722926 28319063 23108138 24013206 17924331	ClinVar	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
		BRIP1	Causal	21473589 8723683 12610780 20700469 12094328 21618645 11241844 15818573 25409685 9760198 10807537 12442275 11139248 9971877 11149425 7894491 12427738 11948477 9482581 28364669 17611497 14722926 11301010 11114888 28319063 10399947 12938098 9654203 12145750	ClinVar	Homologous recombination Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +8 more
		CDH1	Causal	—	ClinVar	Rap1 signaling pathway Apelin signaling pathway Hippo signaling pathway +15 more
		PIK3CA	Causal	12938098 11241844 11149425 14983014 8640237 16793542 12373604 23867111 25619829 11301010 7894491 12454775 12442275 11139248 15365993 9654203 12145750 12569143 23108138 15172753 9971877 12442274 9150152 10399947 9609997 23242139 22241545 20700469 17924331	ClinVar	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +149 more
		PPM1D	Causal	8776600 15133502 20624954 10323242 8554067 7545954 9609997 11114888 21473589 8723683 16353168 8640237 14983014 11149425 11241844 11301010 15172753 12454775 10807537 12427738 9482581 28364669 17611497 14722926 7894491 9760198 25409685 15818573 21618645	ClinVar	p53 signaling pathway Transcriptional regulation by RUNX2
		RAD51	Causal	28319063 15172753 23242139 11241844 24013206 11948477 14722926 12938098 10978364 11139248 15026808 25619829 16793542 8640237 14983014 11149425 12569143 12442275 12373604 9609997 23867111 12427738 10807537 11301010 17924331 15818573 7894491 12454775	ClinVar	Homologous recombination Fanconi anemia pathway Pathways in cancer +8 more
		RAD54L	Causal	—	ClinVar	Homologous recombination
		RB1CC1	Causal	—	ClinVar	Autophagy - animal Longevity regulating pathway Alzheimer disease +5 more
		TP53	Causal	—	ClinVar	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more