Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HEREDITARY BREAST CANCER	227535	ATM	Unknown	33471991	Orphanet	Platinum drug resistance Homologous recombination NF-kappa B signaling pathway +33 more
		BRCA1	Unknown	10323242 12442275 9609997	Orphanet	Platinum drug resistance Homologous recombination Fanconi anemia pathway +19 more
		BRCA2	Unknown	10323242 12442275 9609997	Orphanet	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
		CDH1	Unknown	32322110	Orphanet	Rap1 signaling pathway Apelin signaling pathway Hippo signaling pathway +15 more
		KLLN	Unknown	23450725	Orphanet	—
		NQO2	Unknown	18996184	Orphanet	Phase I - Functionalization of compounds
		PALB2	Unknown	25099575	Orphanet	Homologous recombination Fanconi anemia pathway HDR through Homologous Recombination (HRR) +3 more
		RAD54L	Unknown	—	Orphanet	Homologous recombination
		SLC67A1	Unknown	—	Orphanet	—
		XRCC2	Unknown	22464251	Orphanet	Homologous recombination HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) +3 more
HEREDITARY BREAST CARCINOMA	MONDO:0016419	ATM	Unknown	—	GenCC	Platinum drug resistance Homologous recombination NF-kappa B signaling pathway +33 more
		ATRIP	Unknown	36977412 37592023	ClinGen, GWAS catalog	Fanconi anemia pathway Activation of ATR in response to replication stress HDR through Single Strand Annealing (SSA) +5 more
		BARD1	Unknown	—	GenCC	Homologous recombination HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) +11 more
		BRIP1	Unknown	—	ClinGen, GenCC	Homologous recombination Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +8 more
		CDH1	Unknown	—	GenCC	Rap1 signaling pathway Apelin signaling pathway Hippo signaling pathway +15 more
		CDK9	Unknown	—	GenCC	Viral life cycle - HIV-1 Transcriptional misregulation in cancer Formation of RNA Pol II elongation complex +8 more
		CHEK2	Unknown	15122511 15492928 16828850 17164383 18172190 18759107 19401704 21807500 21876083 21956126 22006311 22901170 23149842 23713947 23946381 24713400 25431674 26014596 26884562 27269948 27433846 28418444 28649662 29493579 29520813 29522	GWAS catalog	Cell cycle p53 signaling pathway Cellular senescence +9 more
		EPCAM	Unknown	—	ClinGen	Virion - Hepatitis viruses Cell surface interactions at the vascular wall
		FANCM	Unknown	26130695 31700994 33471991 36707629	ClinGen, GWAS catalog	Fanconi anemia pathway Fanconi Anemia Pathway
		GEN1	Unknown	—	ClinGen	Resolution of D-loop Structures through Holliday Junction Intermediates
		MCPH1	Unknown	—	ClinGen, GenCC	Condensation of Prophase Chromosomes
		MLH1	Unknown	—	ClinGen	Platinum drug resistance Mismatch repair Fanconi anemia pathway +8 more
		MRE11	Unknown	—	ClinGen	Homologous recombination Non-homologous end-joining Cellular senescence +16 more
		MSH2	Unknown	—	ClinGen	Platinum drug resistance Mismatch repair Pathways in cancer +7 more
		MSH6	Unknown	—	ClinGen	Platinum drug resistance Mismatch repair Pathways in cancer +4 more
		MUTYH	Unknown	—	ClinGen	Base excision repair Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine +2 more
		NBN	Unknown	—	ClinGen	Homologous recombination Cellular senescence DNA Damage/Telomere Stress Induced Senescence +13 more
		PALB2	Unknown	—	GenCC	Homologous recombination Fanconi anemia pathway HDR through Homologous Recombination (HRR) +3 more
		PIK3CA	Unknown	—	ClinGen	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +149 more
		PMS2	Unknown	—	ClinGen	Mismatch repair Fanconi anemia pathway Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) +3 more
		RAD50	Unknown	—	ClinGen	Homologous recombination Non-homologous end-joining Cellular senescence +14 more
		RAD51	Unknown	—	GenCC	Homologous recombination Fanconi anemia pathway Pathways in cancer +8 more
		RECQL	Unknown	—	ClinGen	—
		RINT1	Unknown	—	ClinGen	COPI-dependent Golgi-to-ER retrograde traffic
		SLX4	Unknown	—	ClinGen	Fanconi anemia pathway Resolution of D-loop Structures through Holliday Junction Intermediates Fanconi Anemia Pathway
		XRCC2	Unknown	—	ClinGen	Homologous recombination HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) +3 more

Hereditary breast cancer

Bookmark This Disease