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Genes (17)
Species: human : 17 | |
Human | TMEM30B | 161291 | transmembrane protein 30B | Human CDC50A mRNA was expressed in embryonic stem (ES) cells, placenta, brain and chondrosarcoma, while CDC50B mRNA was expressed in pancreatic islet, kidney, prostate as well as in lung carcinoid, parathyroid tumor, bladder tumor, meningioma and pancreatic cancer. | Human | CDC73 | 79577 | cell division cycle 73 | It is hypothesised that HRPT2 mutation is an early event that may lead to parathyroid malignancy and suggest intragenic mutation of HRPT2 as a marker of malignant potential in both familial and sporadic parathyroid tumours Mutation of HRPT2 is associated with the formation of parathyroid tumors in hyperparathyroidism-jaw tumor syndrome | Human | ANO1 | 55107 | anoctamin 1, calcium activated chloride channel | FLJ10261 mRNA was expressed in head and neck tumors, parathyroid tumors, breast, pancreatic, and gastric cancer. | Human | DACT1 | 51339 | dishevelled-binding antagonist of beta-catenin 1 | DAPPER1 mRNA was expressed in amnion, fetal brain, eye, heart, adult brain medulla, gastric cancer (signet ring cell features), RER+ colon tumor, acute lymphoblastic leukemia, germ cell tumor, chondrosarcoma, and parathyroid tumor. | Human | RELA | 5970 | v-rel avian reticuloendotheliosis viral oncogene homolog A | In parathyroid tumors, p65 phosphorylation is dramatically increased | Human | RBP3 | 5949 | retinol binding protein 3, interstitial | Furthermore, the locus that codes for a distinct phenotype, medullary thyroid carcinoma (MTC) with parathyroid tumors (PTs) and no pheochromocytomas (PHEOs) (referred to as MTC with PTs), in one of the families was closely linked to two markers, D10Z1 and RBP3, with lodscores of 2.86 and 3.54, respectively, at theta = 0. | Human | RAD51 | 5888 | RAD51 recombinase | Compared with the normal RAD51 cDNA sequence, no point mutations or microdeletions could be found in the parathyroid tumor cDNA. | Human | MEN1 | 4221 | multiple endocrine neoplasia I | MEN1 mutation is associated with familial multiple endocrine neoplasia type 1 and not with the sporadic parathyroid tumors | Human | SMAD3 | 4088 | SMAD family member 3 | All 9 coding exons and intron-exon boundaries of the Smad3 gene were then sequenced in genomic DNA from all 20 enteropancreatic and 25 parathyroid tumors, including every case with loss of heterozygosity. | Human | HRPT1 | 3278 | hyperparathyroidism 1 | Furthermore, analysis of parathyroid tumour DNA from one individual revealed a loss of the wild-type allele and retention of the mutant allele, consistent with Knudson;s ;two-hit; model of hereditary cancer and a tumour suppressor role for MEN1 in FIHP. | Human | HDAC1 | 3065 | histone deacetylase 1 | The mapping of HDAC1 centromeric of the main interval, and the lack of altered mRNA expression in tumors with LOH, suggest that HDAC1 is not the main target for 1p deletions in parathyroid tumors. | Human | CXADR | 1525 | coxsackie virus and adenovirus receptor | In conclusion, our results extend previous observation and suggest that clonal somatic mutations of the CaR gene and allelic loss at the CaR locus on chromosome 3q do not play a major role in the pathogenesis of sporadic parathyroid tumors. | Human | CTNNB1 | 1499 | catenin (cadherin-associated protein), beta 1, 88kDa | Aberrant accumulation of beta-catenin is very common in parathyroid tumors, and is caused by stabilizing homozygous mutation in 7.3% of Swedish patients | Human | CDKN2C | 1031 | cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) | Parathyroid tumor suppressor on 1p: analysis of the p18 cyclin-dependent kinase inhibitor gene as a candidate. | Human | CDKN2B | 1030 | cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) | However, single strand conformational polymorphism analysis of all 3 exons of the p16 gene and both exons of the p15 gene failed to demonstrate mutation in any of the 25 cases, and homozygous deletions of the p16 and p15 genes, which are present in some human cancers, were not found in any parathyroid tumors. | Human | CDKN1B | 1027 | cyclin-dependent kinase inhibitor 1B (p27, Kip1) | The absence of clonal inactivating mutations suggests that CDKN1B is not a classical tumor-suppressor gene in secondary/tertiary parathyroid tumors | Human | CASR | 846 | calcium-sensing receptor | A number of genes, put forth as candidate tumor suppressors based on their genomic locations, roles in familial disease, and/or other relevant biological functions, have been examined for pathogenetic mutations in sporadic parathyroid tumors with negative results; these include the calcium-sensing receptor protein (CaR), vitamin-D receptor (VDR), and RET. |
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