Genes (39)
Species: human : 39 | |
Human | BLOC1S3 | 388552 | biogenesis of lysosomal organelles complex-1, subunit 3 | A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8) | Human | FLCN | 201163 | folliculin | The first germline missense mutation in BHD c.1978A>G (K508R) in a patient who presented with bilateral multifocal renal oncocytomas, is reported study reports an Asian family with Birt-Hogg-Dube syndrom with a BHD germline mutation | Human | KIF1B | 23095 | kinesin family member 1B | a germline mutation in the KIF1B beta gene on 1p36 may have a role in neural and nonneural tumors | Human | CHEK2 | 11200 | checkpoint kinase 2 | Heterozygosity for a germline CHEK2 mutation appears to represent an adverse prognostic factor in patients with early-stage breast cancer CHEK2 germline mutation rarely contributes to breast cancer development in the Czech Republic Germ line mutation in checkpoint kinase 2 is associated with breast cancer patients with a positive estrogen receptor status | Human | KERA | 11081 | keratocan | No evidence that endothelial dysfunction and germline mutation of lumican and keratocan genes participate in the etiology of subepithelial corneal haze | Human | AXIN2 | 8313 | axin 2 | Germline AXIN2 mutation is associated with melanoma | Human | WT1 | 7490 | Wilms tumor 1 | Two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations) A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X | Human | VHL | 7428 | von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase | Germline mutation of the VHL gene and loss of heterozygosity on the VHL gene locus in 3p were detected in a meningioma in VHL disease associated with multiple cerebellar hemangioblastomas Germline mutation on the VHL gene was present in patients with pheochromocytoma or functional paraganglioma P81S germline mutation in a German Von Hippel-Lindau disease type 2C family with the previously identified L188V mutation; co-segregation of these two mutations with the disease | Human | TSHR | 7253 | thyroid stimulating hormone receptor | TSHR mutation as a sporadic germline mutation in a patient with hyperthyroidism after thyroid surgery report describes clinical and molecular findings in a Japanese family with hereditary nonautoimmune hyperthyroidism due to a novel TSHR germline mutation (Asp617Tyr) Isoleucine 691 is changed to phenylalanine in a Chinese family and is the first germline mutation in TSHR intracellular C-terminal domain Similarities and differences in the phenotype of members of an Italian family with hereditary non-autoimmune hyperthyroidism associated with an activating TSH receptor germline mutation A novel TSHR germline mutation (N372T) was found in a man who presented with thyrotoxicosis | Human | TP53 | 7157 | tumor protein p53 | A novel germline mutation in p53 gene was found in a patient with Li-Fraumeni syndrome Germline p53 mutation is associated with adrenocortical carcinoma and subsequent osteosarcoma Results show that the TP53 R337H germline mutation predisposes to a larger spectrum of tumours Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age p53 function was lost by TP53 germline mutation with the loss of a wild type allele induced by the chemotherapy against ovarian cancer, leading to the development of MDS Genetic mutation analysis was performed and revealed a germline p53 mutation of CGT > CAT at codon 273 | Human | THRB | 7068 | thyroid hormone receptor, beta | Except for cardiac hypertrophy, the presence of a germline TR-beta mutation had surprisingly little effect on cardiac function | Human | STK11 | 6794 | serine/threonine kinase 11 | report of a novel truncating-type germline mutation of the STK11 gene in a Peutz-Jeghers syndrome patient with gastric cancer STK11/LKB1 gene in IPMNs (intraductal papillary-mucinous neoplasms of the pancreas) with LOH revealed a germline mutation in one IPMN that arose in a patient with PJS (Peutz-Jeghers Syndrome) and a somatic mutation in 1 of the 20 sporadic IPMNs Peutz-Jeghers syndrome with germline mutation of LKB1 | Human | SMARCB1 | 6598 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | Transmission of a germline INI1-mutation in a rhabdoid tumor predisposition syndrome family via nonpenetrant males germline hSNF5 mutation is associated with rhabdoid predisposition syndrome | Human | SMARCA4 | 6597 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | Some mutations are found in prostate cancer, such as germline mutation, SNPs, but common mutations are excluded | Human | SDHD | 6392 | succinate dehydrogenase complex, subunit D, integral membrane protein | germline mutation in the succinate dehydrogenase subunit D (SDHD) gene Germ-line mutation in SDHD is associated with parasympathetic paraganglioma Germline mutation on the SDHD gene was present in patients with pheochromocytoma or functional paraganglioma | Human | SDHB | 6390 | succinate dehydrogenase complex, subunit B, iron sulfur (Ip) | Participation of the iron-sulfur protein subunit of SDHB in development of susceptibility to familial pheochromocytoma is reconfirmed by a familial case with a germline mutation | Human | RET | 5979 | ret proto-oncogene | The majority of medullary thyroid cancers are sporadic, but 20% of cases are a result of a germline mutation in the ret proto-oncogene First molecular studies on a complex germline RET mutation lying in the juxtamembrane region of the receptor are reported in medullary thyroid carcinoma Germ-Line Mutation in RET proto-oncogene is associated with Multiple Endocrine Neoplasia With this study we excluded influence of the G691S polymorphism on RET mRNA expression, development of somatic RET mutation, the linkage with germline RET mutation, younger onset of medullary thyroid carcinoma, and clinical outcome of the disease A germline RET mutation at codon 603 in exon 10 is associated with both medullary and nonmedullary thyroid cancer in a kindred The newly identified RET/N777S germline mutation is a low-penetrant cause of medullary thyroid carcinoma Germline mutation on the RET gene was present in patients with pheochromocytoma or functional paraganglioma We unexpectedly discovered a germline RET mutation in 35 of 481 (7.3%) apparently sporadic medullary thyroid carcinoma patients germline mutation of the RET proto-oncogene in members of Slovak families with multiple endocrine neoplasia 2 uncommon coexistence of a germline mutation in two suppressor genes, RET and CDKN2A in multiple endocrine neoplasia 2a Germ line mutation in RET is associated with multiple endocrine neoplasia type 2A | Human | PTEN | 5728 | phosphatase and tensin homolog | novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association germline PTEN mutation is associated with Hamartoma Tumor Syndrome | Human | NBN | 4683 | nibrin | Germline 657del5 mutation in the NBS1 gene is associated with breast cancer | Human | MUTYH | 4595 | mutY homolog (E. coli) | Biallelic germline mutation of MYH in colorectal cancer also demonstrated microsatellite instability as a result of biallelic hypermethylation of the MLH1 promoter | Human | TRNL1 | 4567 | tRNA | Mutation in the mitochondrial tRNA(Ile) gene, A4267G transition, represents a sporadic germline mutation | Human | MSH2 | 4436 | mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) | Chinese hereditary nonpolyposis colorectal cancer showed relatively frequent germline mutation of mismatch repair (MMR) genes Two to six percent of CRC are caused by germline mutation in the mismatch repair genes MLH1, MSH2 and MSH6 A germline mutation of MSH2 gene could be found in patients with hereditary nonpolyposis colorectal cancer syndrome Germline mutation in MSH2 exon 1, codon 61, nucleotide 181, stopping translation noted in one Uraguayan HNPCC family; and in another mutation at exon 3: at nucleotide 530, codon 117, causing frameshift and premature stop codon eight base pairs later | Human | MLH1 | 4292 | mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) | the patterns of somatic events (LOH and promoter methylation) differ depending on the tissue and germline mutation A germline mutation of MLH1 gene could be found in patients with hereditary nonpolyposis colorectal cancer syndrome results show methylation of MLH1 promoter doesn't exclude presence of germline mutation in mismatch repair gene; hypermethylation of MLH1 promoter may be present in most cases of sporadic colorectal cancer but does not exclude diagnosis of Lynch syndrome Chinese hereditary nonpolyposis colorectal cancer showed relatively frequent germline mutation of mismatch repair (MMR) genes Novel germline mutation in MLH1, with a deletion resulting in a frameshift and a premature stop codon (codon 228) noted in one Uraguayan HNPCC family | Human | MET | 4233 | met proto-oncogene | germline c-met missense mutation g.3522G--> A in exon 16 and somatic missense mutation g.3997 T-->C in exon 19 were identified in papillary renal cell carcinoma patients identified | Human | MEN1 | 4221 | multiple endocrine neoplasia I | Routine germline MEN1 mutation testing of all cases of "classical" MEN1, familial hyperparathyroidism, and sporadic hyperparathyroidism with one other MEN1 related condition is justified by national testing services Multiple Endocrine Neoplasia type 1 (MEN-1) and is caused by a germ-line mutation in MEN-1 gene encoding a tumour suppressor protein, menin |
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