Ovarian cancer is the sixth most common cancer and the fifth leading cause of cancer-related death among women in developed countries. Approximately 90% of human ovarian cancer arises within the ovarian surface epithelium (OSE), with the rest originating from granulosa cells or, rarely, stroma or germ cells. Ovarian epithelial tumors are divided into mucinous, serous, endometrioid, and clear cell subtypes. Approximately 10% of 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 damage over a lifetime. Several specific genes involved in ovarian carcinogenesis have been identified, including the p53 tumor suppressor gene and ERBB2 and PIK3CA oncogenes.
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
Malignant neoplasms of female genital organs
2C73 Malignant neoplasms of ovary
H00027 Ovarian cancer
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06549 Cadherin signaling
H00027 Ovarian cancer
Tumor markers [br08442.html]
H00027
Cancer-associated carbohydrates [br08441.html]
H00027
McKie AB, Vaughan S, Zanini E, Okon IS, Louis L, de Sousa C, Greene MI, Wang Q, Agarwal R, Shaposhnikov D, Wong JL, Gungor H, Janczar S, El-Bahrawy M, Lam EW, Chayen NE, Gabra H
Title
The OPCML tumor suppressor functions as a cell surface repressor-adaptor, negatively regulating receptor tyrosine kinases in epithelial ovarian cancer.
Carpten JD, Faber AL, Horn C, Donoho GP, Briggs SL, Robbins CM, Hostetter G, Boguslawski S, Moses TY, Savage S, Uhlik M, Lin A, Du J, Qian YW, Zeckner DJ, Tucker-Kellogg G, Touchman J, Patel K, Mousses S, Bittner M, Schevitz R, Lai MH, Blanchard KL, Thomas JE
Title
A transforming mutation in the pleckstrin homology domain of AKT1 in cancer.
Hepatocellular carcinoma (HCC) is a major type of primary liver cancer and one of the rare human neoplasms etiologically linked to viral factors. It has been shown that, after HBV/HCV infection and alcohol or aflatoxin B1 exposure, genetic and epigenetic changes occur. The recurrent mutated genes were found to be highly enriched in multiple key driver signaling processes, including telomere maintenance, TP53, cell cycle regulation, the Wnt/beta-catenin pathway (CTNNB1 and AXIN1), the phosphatidylinositol-3 kinase (PI3K)/AKT/mammalian target of rapamycin (mTOR) pathway. Recent studies using whole-exome sequencing have revealed recurrent mutations in new driver genes involved in the chromatin remodelling (ARID1A and ARID2) and the oxidative stress (NFE2L2) pathways.
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
Malignant neoplasms of digestive organs
2C12 Malignant neoplasms of liver or intrahepatic bile ducts
H00048 Hepatocellular carcinoma
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06526 MAPK signaling
H00048 Hepatocellular carcinoma
nt06505 WNT signaling
H00048 Hepatocellular carcinoma
nt06507 TGFB signaling
H00048 Hepatocellular carcinoma
nt06518 JAK-STAT signaling
H00048 Hepatocellular carcinoma
nt06516 TNF signaling
H00048 Hepatocellular carcinoma
nt06528 Calcium signaling
H00048 Hepatocellular carcinoma
Cellular process
nt06550 Lysosome biogenesis
H00048 Hepatocellular carcinoma
nt06524 Apoptosis
H00048 Hepatocellular carcinoma
nt06549 Cadherin signaling
H00048 Hepatocellular carcinoma
Immune system
nt06517 TLR signaling
H00048 Hepatocellular carcinoma
nt06521 NLR signaling
H00048 Hepatocellular carcinoma
nt06519 RLR signaling
H00048 Hepatocellular carcinoma
Tumor markers [br08442.html]
H00048
Cancer-associated carbohydrates [br08441.html]
H00048
Pilomatricoma; Epithelioma calcificans of Malherbe
Description
Pilomatricoma is a benign cutaneous tumor of follicular structures. It occurs either in isolation or in conjunction with other symptoms such as myotonic dystrophy and Rubenstein-Taybi syndrome. The histologic appearance of the tumor is characterized by cells resembling those of the hair follicle matrix and sometimes show differentiation toward the follicular infundibulum and surrounding sheath.
Category
Neoplasm
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
Benign neoplasms except of mesenchymal origin
Benign cutaneous neoplasms
2F22 Benign neoplasms of epidermal appendages
H00947 Pilomatricoma
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06549 Cadherin signaling
H00947 Pilomatricoma
Medulloblastoma is the most common embryonal CNS tumor of childhood and is likely composed of biologically different subsets of tumors arising from stem and/or progenitor cells of the cerebellum. Recently, four distinct molecular subgroups of medulloblastoma have been identified [WNT (wingless), SHH (sonic hedgehog), Group 3, and Group 4]. Nearly all (90 %) of WNT patients have somatic missense mutations in CTNNB1 which promote protein stabilization. Alterations in SHH subgroup most often fall within the Shh signalling pathway. The most common are somatic or germline inactivating alterations or loss of PTCH1 and SUFU, or somatic missense mutations activating SMO. Group 3 tumors are characterized by MYC amplification resulting in high MYC mRNA expression levels compared with SHH and Group 4 tumors.The most frequently mutated somatic gene in Group 4 medulloblastoma is KDM6A, a histone H3 Lys27 (H3K27) demethylase.
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Neoplasms of central nervous system or related structures
2A00 Primary neoplasms of brain
H01667 Medulloblastoma
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06549 Cadherin signaling
H01667 Medulloblastoma
Cancer-associated carbohydrates [br08441.html]
H01667
Waszak SM, Robinson GW, Gudenas BL, Smith KS, Forget A, Kojic M, Garcia-Lopez J, Hadley J, Hamilton KV, Indersie E, Buchhalter I, Kerssemakers J, Jager N, Sharma T, Rausch T, Kool M, Sturm D, Jones DTW, Vasilyeva A, Tatevossian RG, Neale G, Lombard B, Loew D, Nakitandwe J, Rusch M, Bowers DC, Bendel A, Partap S, Chintagumpala M, Crawford J, Gottardo NG, Smith A, Dufour C, Rutkowski S, Eggen T, Wesenberg F, Kjaerheim K, Feychting M, Lannering B, Schuz J, Johansen C, Andersen TV, Roosli M, Kuehni CE, Grotzer M, Remke M, Puget S, Pajtler KW, Milde T, Witt O, Ryzhova M, Korshunov A, Orr BA, Ellison DW, Brugieres L, Lichter P, Nichols KE, Gajjar A, Wainwright BJ, Ayrault O, Korbel JO, Northcott PA, Pfister SM
Title
Germline Elongator mutations in Sonic Hedgehog medulloblastoma.
Begemann M, Waszak SM, Robinson GW, Jager N, Sharma T, Knopp C, Kraft F, Moser O, Mynarek M, Guerrini-Rousseau L, Brugieres L, Varlet P, Pietsch T, Bowers DC, Chintagumpala M, Sahm F, Korbel JO, Rutkowski S, Eggermann T, Gajjar A, Northcott P, Elbracht M, Pfister SM, Kontny U, Kurth I
Title
Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma.
