China
Africa
Explore chapters and articles related to this topic
Familial Pancreatic Cancer
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
FPC, in particular familial PDAC, appears to share the same driver mutations in the oncogene KRAS and tumor suppressor genes CDKN2A, TP53, and SMAD4, which are detected in <20% of FPC samples, but in a much higher proportion of pancreatic cancer samples. A number of other genes (e.g., MLL3, TGFBR2, ARID1A, SF3B1, EPC1, ARID2, ZIM2, MAP2K4, NALCN, SLC16A4, MAGE/A6, RNF43, GNAS, RREB1, and PBRM1) may be also implicated in the development of pancreatic cancer [5,8–11].
Leiomyosarcoma
Published in Dongyou Liu, Tumors and Cancers, 2017
Molecularly, leiomyosarcoma demonstrates multiple and variable gene alterations and very complex karyotypes. These include gains from 1q12-q31, 1q21, 1p3, 5p15, 6q, 8q24 (47%), 15q12-15, 15q25-q26, 16p, 17p11.2 (encompassing MAP2K4, FLCN and MYOCD genes), 17q25.1 (41%), 19q13.12 (53%), 20q, 22q, and Xp; losses from 1q42-qter, 1p36, 2p, 2q, 2p15-pter, 3p21-p23, 4q, 8p21-pter, 9p21.3 (41%), 10p, 10q23-qter (encompassing PTEN gene), 11p, 11q23-qter, 13q14 (encompassing RB gene), 13q14-21, 13q32-qter, 16q, and 18p11; and regions of amplification at 1q21, 5p14-pter, 8q, 12q13-15, 13q31, 17p11 (encompassing p53 gene), 19p13, and 20q13.
Chemical Causes of Cancer
Published in Peter G. Shields, Cancer Risk Assessment, 2005
Gary M. Williams, Alan M. Jeffrey
Each type of malignancy has a specific pattern of metastasis which is determined both by lymphatic and blood drainage from the tumor, and also by factors produced by disseminated cells allowing them to establish metastases (157,158). Genes regulating metastasis of tumor cells have been categorized as either metastasis-promoting (CDH2, CXCRy, MTA1) or metastasis-suppressing (CD9, CD44, Nm 23, KiSS1, Ka11/CD82, CDH1,MAP2K4, MKK4, TIMP, and BRMS1) (159). Several of these (CD9,CD44, and CD82) code for transmembrane proteins. One possible mechanism for metastasis inhibition is the maintenance of gap junction intracellu-lar communication (160).
Pharmacological management of male breast cancer
Published in Expert Opinion on Pharmacotherapy, 2020
Bruno A. Duso, Dario Trapani, Antonio Marra, Paolo D’Amico, Elena Guerini Rocco, Nicola Fusco, Luca Mazzarella, Carmen Criscitiello, Angela Esposito, Giuseppe Curigliano
Evidences suggest that ER-positive MaBC and FeBC share a similar genomic landscape considering copy number profiles, gene mutation (PIK3CA and GATA-3) and specific genetic signatures [23,25–27]. Yet, similarly to FeBC, MaBC is a heterogeneous disease and some unique molecular characteristics have been characterized in different studies. Johansson et al. found different driver genetic aberrations in MaBC as compared to FeBC [28]. Among 30 candidate driver genes identified in MaBC, only a minority included known cancer genes (e.g. MAP2K4, LHP, ZNF217). Lately, it has been observed that the recurrent genetic alterations identified in ER-positive/HER2-negative FeBC were less prevalent in MaBC, including low frequency of TP53 mutations [29]. Conversely, chromatin-regulating gene alterations and homologous recombination (HR) deficiency-related signatures were more frequently identified in MaBCs [25].
Inflammatory and immune response genes: A genetic analysis of inhibitor development in Iranian hemophilia A patients
Published in Pediatric Hematology and Oncology, 2019
Niloofar Naderi, Hossein Yousefi, Sahar Mollazadeh, Afsaneh Seyed Mikaeili, Masoumeh Keshavarz Norouzpour, Mohammad Jazebi, Seyedeh Somayeh Moazezi Nekooi Asl, Ali Namvar, Alireza Azizi Saraji, Elnaz Agi, Azam Bolhassani
As known, TNF-α cytokine plays an important role in the pathogenesis of many infectious and inflammatory diseases. For instance, a SNP in the promoter region (-308 A/G) was found to correlate with enhanced spontaneous and stimulated TNF-α production in autoimmune diseases [32, 34, 35, 42]. In addition, the polymorphism in the -308 region of TNF-α gene was correlated with the development of inhibitors in HA patients. Individuals homozygous for the allele A presented a higher risk of developing inhibitors compared to heterozygotes [35, 43]. The results obtained in our study were not consistent with previous studies, where the association between the -308 A/A genotype and the formation of inhibitors was shown in a subgroup of patients with severe HA [37, 38, 42]. Our study showed that genotype and allele frequencies did not differ significantly between patients with inhibitors and without inhibitors for TNF-α, MAP2K4, PTPRN2, PDGFRB, PCGF2, IQGAP2, and IL-5 genes.
The evolution in our understanding of the genetics of rheumatoid arthritis and the impact on novel drug discovery
Published in Expert Opinion on Drug Discovery, 2020
Filip Machaj, Jakub Rosik, Bartosz Szostak, Andrzej Pawlik
Since this study, several other RA susceptibility risk loci have been identified e.g. 22q12 [35], BACH2 [36], CDK5RAP2 and DPP4 [37]. A number of studies focusing on the interactions between high-risk HLA variants and low-risk SNPs have demonstrated synergistic effects between the HLA-DRB1 SE alleles and variants in PTPN22, HTR2A and MAP2K4 with regard to an elevated risk of ACPA-positive RA. The combination of risk factors yielded a greater odds ratio than their additive separate effects [21,38,39].