Breast Cancer, Familial Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description disease cluster belonging to disease group cancer (Genetic Association Database)
External Link https://www.disgenet.org/browser/0/1/0/C0346153
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Genes

171 genes associated with the disease Breast Cancer, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AATF apoptosis antagonizing transcription factor
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
AKAP10 A kinase (PRKA) anchor protein 10
AKAP13 A kinase (PRKA) anchor protein 13
ANGPT1 angiopoietin 1
ANGPT2 angiopoietin 2
APC adenomatous polyposis coli
AR androgen receptor
ARHGEF28 Rho guanine nucleotide exchange factor (GEF) 28
ARL11 ADP-ribosylation factor-like 11
ATM ATM serine/threonine kinase
ATR ATR serine/threonine kinase
BABAM1 BRISC and BRCA1 A complex member 1
BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1
BARD1 BRCA1 associated RING domain 1
BCORL1 BCL6 corepressor-like 1
BLM Bloom syndrome, RecQ helicase-like
BRAP BRCA1 associated protein
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRD7 bromodomain containing 7
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CASP10 caspase 10, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CCND1 cyclin D1
CCND2 cyclin D2
CD24 CD24 molecule
CD44 CD44 molecule (Indian blood group)
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDKN2A cyclin-dependent kinase inhibitor 2A
CENPE centromere protein E, 312kDa
CHEK1 checkpoint kinase 1
CHEK2 checkpoint kinase 2
CLDN1 claudin 1
CLSPN claspin
COL11A2 collagen, type XI, alpha 2
COMT catechol-O-methyltransferase
CT55 cancer/testis antigen 55
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL10 chemokine (C-X-C motif) ligand 10
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
DICER1 dicer 1, ribonuclease type III
EGFR epidermal growth factor receptor
EMSY EMSY transcriptional repressor, BRCA2 interacting
EP300 E1A binding protein p300
EPCAM epithelial cell adhesion molecule
ERBB2 erb-b2 receptor tyrosine kinase 2
ERCC4 excision repair cross-complementation group 4
ESR1 estrogen receptor 1
EXO1 exonuclease 1
FAM175A family with sequence similarity 175, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCD2 Fanconi anemia, complementation group D2
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FGFR2 fibroblast growth factor receptor 2
FHIT fragile histidine triad
FOXC1 forkhead box C1
FOXD3 forkhead box D3
FOXP1 forkhead box P1
GADD45A growth arrest and DNA-damage-inducible, alpha
GEN1 GEN1 Holliday junction 5' flap endonuclease
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMGA1 high mobility group AT-hook 1
HPGDS hematopoietic prostaglandin D synthase
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
IGF1 insulin-like growth factor 1 (somatomedin C)
IGFBP3 insulin-like growth factor binding protein 3
JAK2 Janus kinase 2
KLK14 kallikrein-related peptidase 14
KLLN killin, p53-regulated DNA replication inhibitor
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
LHFP lipoma HMGIC fusion partner
LMO4 LIM domain only 4
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
MARCH8 membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase
MAST1 microtubule associated serine/threonine kinase 1
MCPH1 microcephalin 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MGMT O-6-methylguanine-DNA methyltransferase
MLH1 mutL homolog 1
MLXIP MLX interacting protein
MRE11 MRE11 homolog, double strand break repair nuclease
MSH2 mutS homolog 2
MSH3 mutS homolog 3
MSH6 mutS homolog 6
MSR1 macrophage scavenger receptor 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTUS1 microtubule associated tumor suppressor 1
MUTYH mutY homolog
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYLIP myosin regulatory light chain interacting protein
NBN nibrin
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NLRP2 NLR family, pyrin domain containing 2
PALB2 partner and localizer of BRCA2
PARP1 poly (ADP-ribose) polymerase 1
PDLIM7 PDZ and LIM domain 7 (enigma)
PER1 period circadian clock 1
PER2 period circadian clock 2
PHB prohibitin
PIF1 PIF1 5'-to-3' DNA helicase
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLH polymerase (DNA directed), eta
POLQ polymerase (DNA directed), theta
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PRL prolactin
PTEN phosphatase and tensin homolog
PTPRG protein tyrosine phosphatase, receptor type, G
RAD50 RAD50 homolog (S. cerevisiae)
RAD51 RAD51 recombinase
RAD51B RAD51 paralog B
RAD51C RAD51 paralog C
RAD51D RAD51 paralog D
RAD54L RAD54-like (S. cerevisiae)
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RCC1 regulator of chromosome condensation 1
RECQL RecQ helicase-like
RECQL5 RecQ protein-like 5
RET ret proto-oncogene
RHOBTB2 Rho-related BTB domain containing 2
RINT1 RAD50 interactor 1
RTEL1 regulator of telomere elongation helicase 1
SAFB scaffold attachment factor B
SAFB2 scaffold attachment factor B2
SFN stratifin
SH3RF1 SH3 domain containing ring finger 1
SLC22A18 solute carrier family 22, member 18
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SLX4 SLX4 structure-specific endonuclease subunit
SOAT1 sterol O-acyltransferase 1
STK11 serine/threonine kinase 11
SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TEK TEK tyrosine kinase, endothelial
TEX15 testis expressed 15
TGFBR1 transforming growth factor, beta receptor 1
TLX1 T-cell leukemia homeobox 1
TM7SF2 transmembrane 7 superfamily member 2
TOPBP1 topoisomerase (DNA) II binding protein 1
TOX3 TOX high mobility group box family member 3
TP53 tumor protein p53
TPD52 tumor protein D52
TSG101 tumor susceptibility 101
TTK TTK protein kinase
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UIMC1 ubiquitin interaction motif containing 1
VEGFA vascular endothelial growth factor A
VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)
WIF1 WNT inhibitory factor 1
WRN Werner syndrome, RecQ helicase-like
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3