Sökning: WFRF:(Moens Lotte) > Mutation patterns i...
Fältnamn | Indikatorer | Metadata |
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000 | 07606naa a2200781 4500 | |
001 | oai:DiVA.org:uu-380587 | |
003 | SwePub | |
008 | 190329s2019 | |||||||||||000 ||eng| | |
009 | oai:DiVA.org:su-168651 | |
009 | oai:prod.swepub.kib.ki.se:140687514 | |
009 | oai:lup.lub.lu.se:b6f78d0a-74ab-4af1-a7f9-5057650e1a4a | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3805872 URI |
024 | 7 | a https://doi.org/10.1016/j.lungcan.2019.01.0032 DOI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-1686512 URI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1406875142 URI |
024 | 7 | a https://lup.lub.lu.se/record/b6f78d0a-74ab-4af1-a7f9-5057650e1a4a2 URI |
040 | a (SwePub)uud (SwePub)sud (SwePub)kid (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a La Fleur, Linneau Uppsala University,Uppsala universitet,Klinisk och experimentell patologi,Science for Life Laboratory, SciLifeLab,Johan Botling4 aut0 (Swepub:uu)linla513 |
245 | 1 0 | a Mutation patterns in a population-based non-small cell lung cancer cohort and prognostic impact of concomitant mutations in KRAS and TP53 or STK11 |
264 | 1 | b Elsevier BV,c 2019 |
338 | a electronic2 rdacarrier | |
520 | a OBJECTIVES: Non-small cell lung cancer (NSCLC) is a heterogeneous disease with unique combinations of somatic molecular alterations in individual patients, as well as significant differences in populations across the world with regard to mutation spectra and mutation frequencies. Here we aim to describe mutational patterns and linked clinical parameters in a population-based NSCLC cohort.MATERIALS AND METHODS: Using targeted resequencing the mutational status of 82 genes was evaluated in a consecutive Swedish surgical NSCLC cohort, consisting of 352 patient samples from either fresh frozen or formalin fixed paraffin embedded (FFPE) tissues. The panel covers all exons of the 82 genes and utilizes reduced target fragment length and two-strand capture making it compatible with degraded FFPE samples.RESULTS: We obtained a uniform sequencing coverage and mutation load across the fresh frozen and FFPE samples by adaption of sequencing depth and bioinformatic pipeline, thereby avoiding a technical bias between these two sample types. At large, the mutation frequencies resembled the frequencies seen in other western populations, except for a high frequency of KRAS hotspot mutations (43%) in adenocarcinoma patients. Worse overall survival was observed for adenocarcinoma patients with a mutation in either TP53, STK11 or SMARCA4. In the adenocarcinoma KRAS-mutated group poor survival appeared to be linked to concomitant TP53 or STK11 mutations, and not to KRAS mutation as a single aberration. Similar results were seen in the analysis of publicly available data from the cBioPortal. In squamous cell carcinoma a worse prognosis could be observed for patients with MLL2 mutations, while CSMD3 mutations were linked to a better prognosis.CONCLUSION: Here we have evaluated the mutational status of a NSCLC cohort. We could not confirm any survival impact of isolated driver mutations. Instead, concurrent mutations in TP53 and STK11 were shown to confer poor survival in the KRAS-positive adenocarcinoma subgroup. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Klinisk laboratoriemedicin0 (SwePub)302232 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Clinical Laboratory Medicine0 (SwePub)302232 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
653 | a KRAS | |
653 | a Mutation patterns | |
653 | a Non-small cell lung cancer | |
653 | a STK11 | |
653 | a TP53 | |
653 | a Targeted resequencing | |
653 | a Patologi | |
653 | a Pathology | |
653 | a KRAS | |
653 | a Mutation patterns | |
653 | a Non-small cell lung cancer | |
653 | a STK11 | |
653 | a Targeted resequencing | |
653 | a TP53 | |
700 | 1 | a Falk-Sörqvist, Elinu Uppsala University,Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi4 aut0 (Swepub:uu)elifa876 |
700 | 1 | a Smeds, Patriku Uppsala University,Uppsala universitet,Institutionen för immunologi, genetik och patologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)patsm159 |
700 | 1 | a Berglund, Andersu EpiStat (Epidemiology & Statistics Consulting) Sweden4 aut |
700 | 1 | a Sundström, Magnusu Uppsala University,Uppsala universitet,Klinisk och experimentell patologi,Science for Life Laboratory, SciLifeLab,Johan Botling4 aut0 (Swepub:uu)magnsund |
700 | 1 | a Mattsson, Johanna Sofia Margareta,d 1985-u Uppsala universitet,Klinisk och experimentell patologi,Patrick Micke4 aut0 (Swepub:uu)johma961 |
700 | 1 | a Brandén, Evau Uppsala University,Uppsala universitet,Centrum för klinisk forskning, Gävleborg,Dept. of Respiratory Medicine, Gävle Hospital, Gävle4 aut0 (Swepub:uu)evabr789 |
700 | 1 | a Koyi, Hirshu Uppsala University,Karolinska Institutet,Uppsala universitet,Centrum för klinisk forskning, Gävleborg,Dept. of Respiratory Medicine, Gävle Hospital, Gävle4 aut0 (Swepub:uu)hirko843 |
700 | 1 | a Isaksson, Johanu Uppsala University,Uppsala universitet,Science for Life Laboratory, SciLifeLab,Klinisk och experimentell patologi,Centrum för klinisk forskning, Gävleborg,Dept. of Respiratory Medicine, Gävle Hospital, Gävle4 aut0 (Swepub:uu)johis237 |
700 | 1 | a Brunnström, Hansu Lund University,Lunds universitet,Förbättrad diagnostik och prognostik vid lungcancer och metastaser till lunga,Forskargrupper vid Lunds universitet,Improved diagnostics and prognostics of lung cancer and metastases to the lungs,Lund University Research Groups4 aut0 (Swepub:lu)med-hsb |
700 | 1 | a Nilsson, Matsu Stockholm University,Stockholms universitet,Institutionen för biokemi och biofysik4 aut0 (Swepub:lu)ma6088ni |
700 | 1 | a Micke, Patricku Uppsala University,Uppsala universitet,Klinisk och experimentell patologi,Science for Life Laboratory, SciLifeLab,Patrick Micke4 aut0 (Swepub:uu)patmi676 |
700 | 1 | a Moens, Lotteu Uppsala University,Uppsala universitet,Klinisk och experimentell patologi,Science for Life Laboratory, SciLifeLab,Johan Botling4 aut0 (Swepub:uu)lotmo617 |
700 | 1 | a Botling, Johanu Uppsala University,Uppsala universitet,Klinisk och experimentell patologi,Science for Life Laboratory, SciLifeLab,Johan Botling4 aut0 (Swepub:uu)johanbot |
710 | 2 | a Uppsala universitetb Klinisk och experimentell patologi4 org |
773 | 0 | t Lung Cancerd : Elsevier BVg 130, s. 50-58q 130<50-58x 0169-5002x 1872-8332 |
856 | 4 | u https://doi.org/10.1016/j.lungcan.2019.01.003y Fulltext |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1300619/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u http://www.lungcancerjournal.info/article/S0169500219300054/pdf |
856 | 4 | u http://dx.doi.org/10.1016/j.lungcan.2019.01.003x freey FULLTEXT |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-380587 |
856 | 4 8 | u https://doi.org/10.1016/j.lungcan.2019.01.003 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-168651 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:140687514 |
856 | 4 8 | u https://lup.lub.lu.se/record/b6f78d0a-74ab-4af1-a7f9-5057650e1a4a |
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