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Entry | Name | Description | Category | Pathway | Gene |
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H00019 | Pancreatic cancer | ... early, inactivation of the p16 gene at an intermediate stage, and the inactivation of p53, SMAD4, and BRCA2 occur relatively late. Activated K-ras engages multiple effector pathways. Although EGF receptors ... | Cancer | hsa05212 Pancreatic cancer |
KRAS [HSA:3845] [KO:K07827] TP53 [HSA:7157] [KO:K04451] SMAD4 [HSA:4089] [KO:K04501] STK11 [HSA:6794] [KO:K07298] ERBB2 (overexpression) [HSA:2064] [KO:K05083] CDKN2A (mutation, deletion, promoter methylation) [HSA:1029] [KO:K06621] (PNCA1) PALLD [HSA:23022] [KO:K22029] (PNCA2) BRCA2 [HSA:675] [KO:K08775] (PNCA3) PALB2 [HSA:79728] [KO:K10897] (PNCA4) BRCA1 [HSA:672] [KO:K10605] (PNCA5) RABL3 [HSA:285282] [KO:K07933] |
H00027 | Ovarian cancer | ... ovarian cancers arise in women who have inherited mutations in cancer susceptibility genes (BRCA1 or BRCA2). The vast majority of ovarian cancers are sporadic, resulting from the accumulation of genetic ... | Cancer |
BRCA1 (germline mutation / deletion) [HSA:672] [KO:K10605] BRCA2 (germline mutation / deletion) [HSA:675] [KO:K08775] MSH2 (germline mutation) [HSA:4436] [KO:K08735] MLH1 (germline mutation) [HSA:4292] [KO:K08734] ERBB2 (amplification / overexpression) [HSA:2064] [KO:K05083] K-ras (mutation) [HSA:3845] [KO:K07827] AKT2 (amplification) [HSA:208] [KO:K04456] PIK3CA (amplification) [HSA:5290] [KO:K00922] c-MYC (overexpression) [HSA:4609] [KO:K04377] p53 (mutation / deletion, overexpression) [HSA:7157] [KO:K04451] CTNNB1 [HSA:1499] [KO:K02105] PRKN [HSA:5071] [KO:K04556] OPCML [HSA:4978] [KO:K06773] AKT1 [HSA:207] [KO:K04456] CDH1 [HSA:999] [KO:K05689] |
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H00031 | Breast cancer | Breast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland ... | Cancer | hsa05224 Breast cancer |
BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605] BRCA2 [HSA:675] [KO:K08775] BARD1 [HSA:580] [KO:K10683] BRIP1 [HSA:83990] [KO:K15362] PALB2 [HSA:79728] [KO:K10897] RAD51 [HSA:5888] [KO:K04482] RAD54L [HSA:8438] [KO:K10875] XRCC3 [HSA:7517] [KO:K10880] ERBB2/HER2 (overexpression) [HSA:2064] [KO:K05083] ESR1/ER1 [HSA:2099] [KO:K08550] PGR [HSA:5241] [KO:K08556] GATA3 [HSA:2625] [KO:K17895] PIK3CA [HSA:5290] [KO:K00922] TP53 [HSA:7157] [KO:K04451] PPM1D [HSA:8493] [KO:K10147] RB1CC1 [HSA:9821] [KO:K17589] HMMR [HSA:3161] [KO:K06267] NQO2 [HSA:4835] [KO:K08071] SLC22A18 [HSA:5002] [KO:K08214] PTEN [HSA:5728] [KO:K01110] EGFR (overexpression) [HSA:1956] [KO:K04361] KIT (overexpression) [HSA:3815] [KO:K05091] NOTCH1 (overexpression) [HSA:4851] [KO:K02599] NOTCH4 (overexpression) [HSA:4855] [KO:K20996] FZD7 (overexpression) [HSA:8324] [KO:K02432] LRP6 (overexpression) [HSA:4040] [KO:K03068] FGFR1 (amplification) [HSA:2260] [KO:K04362] CCND1 (amplification) [HSA:595] [KO:K04503] |
H00042 | Glioma | Gliomas are the most common of the primary brain tumors and account for more than 40% of all central nervous system neoplasms. Gliomas include tumours that are composed predominantly of astrocytes (astrocytomas) ... | Cancer | hsa05214 Glioma |
(GLM1) IDH1 [HSA:3417] [KO:K00031] (GLM1) TP53 [HSA:7157] [KO:K04451] (GLM1) ERBB2 [HSA:2064] [KO:K05083] (GLM2) PTEN [HSA:5728] [KO:K01110] (GLM3) BRCA2 [HSA:675] [KO:K08775] (GLM9) POT1 [HSA:25913] [KO:K11109] EGFR (amplification, overexpression) [HSA:1956] [KO:K04361] MDM2 (amplification, overexpression) [HSA:4193] [KO:K06643] CDK4 (amplification) [HSA:1019] [KO:K02089] PDGFA (overexpression) [HSA:5154] [KO:K04359] PDGFB (overexpression) [HSA:5155] [KO:K17386] PDGFRA (overexpression, amplification) [HSA:5156] [KO:K04363] PDGFRB (overexpression, amplification) [HSA:5159] [KO:K05089] RB1 (loss) [HSA:5925] [KO:K06618] CDKN2A [HSA:1029] [KO:K06621] |
H00238 | Fanconi anemia | Fanconi anemia (FA), a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow failures, chromosomal instability and susceptibility ... | Hematologic disease |
(FANCA) FANCA [HSA:2175] [KO:K10888] (FANCB) FANCB [HSA:2187] [KO:K10889] (FANCC) FANCC [HSA:2176] [KO:K10890] (FANCD1) BRCA2 [HSA:675] [KO:K08775] (FANCD2) FANCD2 [HSA:2177] [KO:K10891] (FANCE) FANCE [HSA:2178] [KO:K10892] (FANCF) FANCF [HSA:2188] [KO:K10893] (FANCG) FANCG [HSA:2189] [KO:K10894] (FANCI) FANCI [HSA:55215] [KO:K10895] (FANCJ) BRIP1 [HSA:83990] [KO:K15362] (FANCL) FANCL [HSA:55120] [KO:K10606] (FANCM) FANCM [HSA:57697] [KO:K10896] (FANCN) PALB2 [HSA:79728] [KO:K10897] (FANCO) RAD51C [HSA:5889] [KO:K10870] (FANCP) SLX4 [HSA:84464] [KO:K10484] (FANCQ) ERCC4 [HSA:2072] [KO:K10848] (FANCR) RAD51 [HSA:5888] [KO:K04482] (FANCS) BRCA1 [HSA:672] [KO:K10605] (FANCT) UBE2T [HSA:29089] [KO:K13960] (FANCU) XRCC2 [HSA:7516] [KO:K10879] (FANCV) MAD2L2 [HSA:10459] [KO:K13728] (FANCW) RFWD3 [HSA:55159] [KO:K15691] |
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H01554 | Fallopian tube cancer | Fallopian tube cancer is a rare, aggressive gynecologic malignancy. Recent genetic and immunohistochemical studies strongly suggest that high-grade serous adenocarcinoma (SAC) involving the ovary likely ... | Cancer |
BRCA1 (mutation) [HSA:672] [KO:K10605] BRCA2 (mutation) [HSA:675] [KO:K08775] TP53 (overexpression) [HSA:7157] [KO:K04451] ERBB2 (overexpression) [HSA:2064] [KO:K05083] c-myc (overexpression) [HSA:4609] [KO:K04377] |
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H02301 |
Nephroblastoma Wilms tumor |
Nephroblastoma, also called Wilms tumor (WT), is the most common renal tumor of childhood. It can present as a single nodule, as multifocal unilateral lesions or as bilateral tumours. Typically, nephroblastoma ... | Cancer |
(WT1) WT1 [HSA:7490] [KO:K09234] (WT5) POU6F2 [HSA:11281] [KO:K09368] (WT6) REST [HSA:5978] [KO:K09222] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] BRCA2 [HSA:675] [KO:K08775] GPC3 [HSA:2719] [KO:K08109] |
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H02531 | Familial breast-ovarian cancer | ... cancer is considered to be polygenic. The most important breast cancer susceptibility genes are BRCA1 and BRCA2. Mutations in these genes confer a high risk of early-onset breast cancer and also an increased ... | Cancer |
(BROVCA1) BRCA1 [HSA:672] [KO:K10605] (BROVCA2) BRCA2 [HSA:675] [KO:K08775] (BROVCA3) RAD51C [HSA:5889] [KO:K10870] (BROVCA4) RAD51D [HSA:5892] [KO:K10871] (BROVCA5) PALB2 [HSA:79728] [KO:K10897] |
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