Portrait of a cancer: mutational signature analyses for cancer diagnostics

Autor: Ruben van Boxtel, Niels H. Tjoonk, Edwin Cuppen, Arne Van Hoeck

Publikováno v: BMC Cancer, Vol 19, Iss 1, Pp 1-14 (2019)
BMC Cancer, 19. BioMed Central
BMC Cancer

Background In the past decade, systematic and comprehensive analyses of cancer genomes have identified cancer driver genes and revealed unprecedented insight into the molecular mechanisms underlying the initiation and progression of cancer. These stu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e7270bd29ec4dd28b4af3dcea41dcc2
http://link.springer.com/article/10.1186/s12885-019-5677-2

JAK2-tree: a simple CBC-based decision rule to guide appropriate JAK2 V617F mutation testing

Autor: Gary D. Sinclair, Tarah Lynch, Meer-Taher Shabani-Rad, Stig E. Bojesen, Etienne Mahe, Yunus Çolak, Faisal Khan, Kasper Mønsted Pedersen

Publikováno v: Journal of Clinical Pathology
Mahe, E, Pedersen, K M, Çolak, Y, Bojesen, S E, Lynch, T, Sinclair, G, Khan, F & Shabani-Rad, M-T 2019, ' JAK2-tree : a simple CBC-based decision rule to guide appropriate JAK2 V617F mutation testing ', Journal of Clinical Pathology, vol. 72, no. 2, pp. 172-176 . https://doi.org/10.1136/jclinpath-2018-205527

AimsThe JAK2 V617F mutation is highly recurrent in many of the myeloproliferative neoplasms, a molecular variant that can be easily detected using sensitive and minimally invasive techniques. Given the ease of JAK2 V617F testing, this test may be imp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8b7c52bded4ddb732644b395387c831
https://doi.org/10.1136/jclinpath-2018-205527

KRAS mutations in the parental tumour accelerate in vitro growth of tumoroids established from colorectal adenocarcinoma

Autor: Vera Timmermans, Linea Cecilie Melchior, Jacob Thastrup, Nabi Mousavi, Steffen Heegaard, Anna Hammerich Thysen, Sarah Line Bring Truelsen, Henrik Harling, Lars N. Jorgensen, Grith Hagel

Publikováno v: Mousavi, N, Truelsen, S L B, Hagel, G, Jorgensen, L N, Harling, H, Timmermans, V, Melchior, L C, Thysen, A H, Heegaard, S & Thastrup, J 2019, ' KRAS mutations in the parental tumour accelerate in vitro growth of tumoroids established from colorectal adenocarcinoma ', International Journal of Experimental Pathology, vol. 100, no. 1, pp. 12-18 . https://doi.org/10.1111/iep.12308

The aim of the present study was to characterize a patient-derived in vitro 3D model (ie tumoroid) established from colorectal adenocarcinoma. This study investigated the growth rate of tumoroids and whether the Kirsten rat sarcoma (KRAS) mutations i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be64c15c4a4732c8bdd8121194ad1f5d
https://europepmc.org/articles/PMC6463397/

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

Autor: Maartje Nielsen, Marjolijn J. L. Ligtenberg, Yvonne Tiersma, Juul T. Wijnen, Maran J. W. Olderode-Berends, Encarna Gomez Garcia, B. Redeker, José B. M. Zonneveld, Sanne W. ten Broeke, Frederik J. Hes, Carli M. J. Tops, Peter Devilee, Theo A. M. van Os, Christi J. van Asperen, Hans J. J. P. Gille, Niels de Wind, Heleen M. van der Klift, Arjen R. Mensenkamp, Tom G.W. Letteboer, Yvonne J. Vos, Elsa C. Bik, Mark Drost, S. Verhoef, Liselotte P. van Hest, Anja Wagner

Publikováno v: Human mutation, 37(11), 1162-1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162-1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162–1179. Wiley-Liss Inc.
Human Mutation, 37(11), 1162-1179. Wiley
Human Mutation, 37(11), 1162-1179
Human Mutation, 37, 11, pp. 1162-1179
Human Mutation, 37, 1162-1179
van der Klift, H M, Mensenkamp, A R, Drost, M, Bik, E C, Vos, Y J, Gille, H J J P, Redeker, B E J W, Tiersma, Y, Zonneveld, J B M, Garcia, E G, Letteboer, T G W, Olderode-Berends, M J W, van Hest, L P, van Os, T A, Verhoef, S, Wagner, A, van Asperen, C J, Ten Broeke, S W, Hes, F J, de Wind, N, Nielsen, M, Devilee, P, Ligtenberg, M J L, Wijnen, J T & Tops, C M J 2016, ' Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome ', Human Mutation, vol. 37, no. 11, pp. 1162-1179 . https://doi.org/10.1002/humu.23052

Monoallelic PMS2 germline mutations cause 5-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional MMR deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0e47d3e18fe6f732f598289c985f991
https://doi.org/10.1002/humu.23052

Mutational Analysis of sRNA-mRNA Base Pairing by Electrophoretic Mobility Shift Assay

Autor: Eva Maria Sternkopf Lillebæk, Birgitte H. Kallipolitis

Publikováno v: Lillebæk, E M S & Kallipolitis, B H 2018, Mutational Analysis of sRNA-mRNA Base Pairing by Electrophoretic Mobility Shift Assay . in V Arluison & C Valverde (eds), Bacterial Regulatory RNA : Methods and Protocols . Humana Press, Methods in Molecular Biology, vol. 1737, pp. 165-176 . https://doi.org/10.1007/978-1-4939-7634-8_10
Methods in Molecular Biology ISBN: 9781493976331

Small regulatory RNAs (sRNAs) in bacteria often act by base pairing to mRNAs. Direct interactions between an sRNA and its target mRNA can be investigated by electrophoretic mobility shift assay. In this assay, regions engaged in base pairing are anal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::035de61518a0ab429646367737756fe2
https://portal.findresearcher.sdu.dk/da/publications/76846632-f1af-4b0a-8e27-cd7f4a6dd570