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Sökning: WFRF:(de la Chapelle A)

  • Resultat 11-20 av 23
  • Föregående 1[2]3Nästa
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  • ten Broeke, SW, et al. (författare)
  • Cancer Risks for PMS2-Associated Lynch Syndrome
  • 2018
  • Ingår i: Journal of clinical oncology : official journal of the American Society of Clinical Oncology. - 1527-7755. ; 36:29, s. 2961-
  • Tidskriftsartikel (refereegranskat)
  • Bao, Erik L, et al. (författare)
  • Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells
  • 2020
  • Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; 586:7831, s. 769-775
  • Tidskriftsartikel (refereegranskat)abstract
    • Myeloproliferative neoplasms (MPNs) are blood cancers that are characterized by the excessive production of mature myeloid cells and arise from the acquisition of somatic driver mutations in haematopoietic stem cells (HSCs). Epidemiological studies indicate a substantial heritable component of MPNs that is among the highest known for cancers1. However, only a limited number of genetic risk loci have been identified, and the underlying biological mechanisms that lead to the acquisition of MPNs remain unclear. Here, by conducting a large-scale genome-wide association study (3,797 cases and 1,152,977 controls), we identify 17 MPN risk loci (P < 5.0 × 10-8), 7 of which have not been previously reported. We find that there is a shared genetic architecture between MPN risk and several haematopoietic traits from distinct lineages; that there is an enrichment for MPN risk variants within accessible chromatin of HSCs; and that increased MPN risk is associated with longer telomere length in leukocytes and other clonal haematopoietic states-collectively suggesting that MPN risk is associated with the function and self-renewal of HSCs. We use gene mapping to identify modulators of HSC biology linked to MPN risk, and show through targeted variant-to-function assays that CHEK2 and GFI1B have roles in altering the function of HSCs to confer disease risk. Overall, our results reveal a previously unappreciated mechanism for inherited MPN risk through the modulation of HSC function.
  • Clendenning, M, et al. (författare)
  • A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome
  • 2008
  • Ingår i: Journal of Medical Genetics. - : BMJ Publishing Group. - 0022-2593 .- 1468-6244. ; 45:6, s. 340-345
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (<2% of all identified mutations), yet the immunohistochemical analysis of tumour samples indicates that approximately 5% of Lynch syndrome cases are caused by PMS2. This disparity is primarily due to complications in the study of this gene caused by interference from pseudogene sequences. Methods: Using a recently developed method for detecting PMS2 specific mutations, we have screened 99 patients who are likely candidates for PMS2 mutations based on immunohistochemical analysis. Results: We have identified a frequently occurring frame-shift mutation (c.736_741del 6ins11) in 12 ostensibly unrelated Lynch syndrome patients (20% of patients we have identified with a deleterious mutation in PMS2, n = 61). These individuals all display the rare allele (population frequency <0.05) at a single nucleotide polymorphism (SNP) in exon 11, and have been shown to possess a short common haplotype, allowing us to calculate that the mutation arose around 1625 years ago (65 generations; 95% confidence interval 22 to 120). Conclusion: Ancestral analysis indicates that this mutation is enriched in individuals with British and Swedish ancestry. We estimate that there are >10 000 carriers of this mutation in the USA alone. The identification of both the mutation and the common haplotype in one Swedish control sample (n = 225), along with evidence that Lynch syndrome associated cancers are rarer than expected in the probands' families, would suggest that this is a prevalent mutation with reduced penetrance.
  • Clendenning, M, et al. (författare)
  • Long-range PCR facilitates the identification of PMS2-specific mutations
  • 2006
  • Ingår i: Human Mutation. - : John Wiley & Sons Inc.. - 1059-7794 .- 1098-1004. ; 27:5, s. 490-495
  • Tidskriftsartikel (refereegranskat)abstract
    • Mutations within the DNA mismatch repair gene, "postmeiotic segregation increased 2" (PMS2), have been associated with a predisposition to hereditary nonpolyposis colorectal cancer (HNPCC; Lynch syndrome). The presence of a large family of highly homologous PMS2 pseudogenes has made previous attempts to sequence PMS2 very difficult. Here, we describe a novel method that utilizes long-range PCR as a way to preferentially amplify PMS2 and not the pseudogenes. A second, exon-specific, amplification from diluted long-range products enables us to obtain a clean sequence that shows no evidence of pseudogene contamination. This method has been used to screen a cohort of patients whose tumors were negative for the PMS2 protein by immunohistochemistry and had not shown any mutations within the MLH1 gene. Sequencing of the PMS2 gene from 30 colorectal and I I endometrial cancer patients identified 10 novel sequence changes as well as 17 sequence changes that had previously been identified. In total, putative pathologic mutations were detected in 11 of the 41 families. Among these were five novel mutations, c.705+1G > T, c.736-741del6ins11, c.862_863del, c.1688G > T, and c.2007-IG > A. We conclude that PMS2 mutation detection in selected Lynch syndrome and Lynch syndrome-like patients is both feasible and desirable.
  • Gillibert, R., et al. (författare)
  • Raman tweezers for tire and road wear micro- and nanoparticles analysis
  • 2022
  • Ingår i: Environmental Science-Nano. - : Royal Society of Chemistry (RSC). - 2051-8153 .- 2051-8161. ; 9:1, s. 145-161
  • Tidskriftsartikel (refereegranskat)abstract
    • Tire and road wear particles (TRWP) are non-exhaust particulate matter generated by road transport means during the mechanical abrasion of tires, brakes and roads. TRWP accumulate on the roadsides and are transported into the aquatic ecosystem during stormwater runoffs. Due to their size (sub-millimetric) and rubber content (elastomers), TRWP are considered microplastics (MPs). While the amount of the MPs polluting the water ecosystem with sizes from similar to 5 mu m to more than 100 mu m is known, the fraction of smaller particles is unknown due to the technological gap in the detection and analysis of <5 mu m MPs. Here we show that Raman tweezers, a combination of optical tweezers and Raman spectroscopy, can be used to trap and chemically analyze individual TRWPs in a liquid environment, down to the sub-micrometric scale. Using tire particles mechanically grinded from aged car tires in water solutions, we show that it is possible to optically trap individual sub-micron particles, in a so-called 2D trapping configuration, and acquire their Raman spectrum in few tens of seconds. The analysis is then extended to samples collected from a brake test platform, where we highlight the presence of sub-micrometric agglomerates of rubber and brake debris, thanks to the presence of additional spectral features other than carbon. Our results show the potential of Raman tweezers in environmental pollution analysis and highlight the formation of nanosized TRWP during wear.
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  • Föregående 1[2]3Nästa
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