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Items: 1 to 50 of 113

1.

Genetic instability and recurrent MYC amplification in ALK-translocated NSCLC; a central role of TP53 mutations.

Alidousty C, Baar T, Martelotto LG, Heydt C, Wagener S, Fassunke J, Duerbaum N, Scheel AH, Frank S, Holz B, Binot E, Kron A, Merkelbach-Bruse S, Ihle MA, Wolf J, Buettner R, Schultheis AM.

J Pathol. 2018 Jun 9. doi: 10.1002/path.5110. [Epub ahead of print]

PMID:
29885057
2.

Therapy susceptible germline-related BRCA 1-mutation in a case of metastasized mixed adeno-neuroendocrine carcinoma (MANEC) of the small bowel.

Quaas A, Waldschmidt D, Alakus H, Zander T, Heydt C, Goeser T, Daheim M, Kasper P, Plum P, Bruns C, Brunn A, Roth W, Hartmann N, Bunck A, Schmidt M, Göbel H, Tharun L, Buettner R, Merkelbach-Bruse S.

BMC Gastroenterol. 2018 May 31;18(1):75. doi: 10.1186/s12876-018-0803-1.

3.

Clinical and Pathological Characteristics of KEAP1- and NFE2L2-Mutated Non-Small Cell Lung Carcinoma (NSCLC).

Frank R, Scheffler M, Merkelbach-Bruse S, Ihle MA, Kron A, Rauer M, Ueckeroth F, König K, Michels S, Fischer R, Eisert A, Fassunke J, Heydt C, Serke M, Ko YD, Gerigk U, Geist T, Kaminsky B, Heukamp LC, Clement-Ziza M, Büttner R, Wolf J.

Clin Cancer Res. 2018 Jul 1;24(13):3087-3096. doi: 10.1158/1078-0432.CCR-17-3416. Epub 2018 Apr 3.

PMID:
29615460
4.

Expression of cell cycle regulators and frequency of TP53 mutations in high risk gastrointestinal stromal tumors prior to adjuvant imatinib treatment.

Ihle MA, Huss S, Jeske W, Hartmann W, Merkelbach-Bruse S, Schildhaus HU, Büttner R, Sihto H, Sundby Hall K, Eriksson M, Reichardt P, Joensuu H, Wardelmann E.

PLoS One. 2018 Feb 16;13(2):e0193048. doi: 10.1371/journal.pone.0193048. eCollection 2018.

5.

Copy number variations in atypical fibroxanthomas and pleomorphic dermal sarcomas.

Helbig D, Quaas A, Mauch C, Merkelbach-Bruse S, Büttner R, Emberger M, Wobser M, Rüsseler V, Pütz K, Binot E, Rehker J, Budczies J, Ihle MA.

Oncotarget. 2017 Nov 25;8(65):109457-109467. doi: 10.18632/oncotarget.22691. eCollection 2017 Dec 12.

6.

An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice.

Ellison G, Ahdesmäki M, Luke S, Waring PM, Wallace A, Wright R, Röthlisberger B, Ludin K, Merkelbach-Bruse S, Heydt C, Ligtenberg MJL, Mensenkamp AR, de Castro DG, Jones T, Vivancos A, Kondrashova O, Pauwels P, Weyn C, Hahnen E, Hauke J, Soong R, Lai Z, Dougherty B, Carr TH, Johnson J, Mills J, Barrett JC.

Hum Mutat. 2018 Mar;39(3):394-405. doi: 10.1002/humu.23375. Epub 2017 Dec 28.

7.

EGFR T790M mutation testing of non-small cell lung cancer tissue and blood samples artificially spiked with circulating cell-free tumor DNA: results of a round robin trial.

Fassunke J, Ihle MA, Lenze D, Lehmann A, Hummel M, Vollbrecht C, Penzel R, Volckmar AL, Stenzinger A, Endris V, Jung A, Lehmann U, Zeugner S, Baretton G, Kreipe H, Schirmacher P, Kirchner T, Dietel M, Büttner R, Merkelbach-Bruse S.

Virchows Arch. 2017 Oct;471(4):509-520. doi: 10.1007/s00428-017-2226-8. Epub 2017 Sep 8.

PMID:
28884371
8.

LSD1 modulates the non-canonical integrin β3 signaling pathway in non-small cell lung carcinoma cells.

Lim SY, Macheleidt I, Dalvi P, Schäfer SC, Kerick M, Ozretić L, Ortiz-Cuaran S, George J, Merkelbach-Bruse S, Wolf J, Timmermann B, Thomas RK, Schweiger MR, Buettner R, Odenthal M.

Sci Rep. 2017 Aug 31;7(1):10292. doi: 10.1038/s41598-017-09554-x.

9.

Comparison of Blood Collection Tubes from Three Different Manufacturers for the Collection of Cell-Free DNA for Liquid Biopsy Mutation Testing.

Alidousty C, Brandes D, Heydt C, Wagener S, Wittersheim M, Schäfer SC, Holz B, Merkelbach-Bruse S, Büttner R, Fassunke J, Schultheis AM.

J Mol Diagn. 2017 Sep;19(5):801-804. doi: 10.1016/j.jmoldx.2017.06.004. Epub 2017 Jul 18.

PMID:
28732213
10.

Lung cancer as a paradigm for precision oncology in solid tumours.

Schallenberg S, Merkelbach-Bruse S, Buettner R.

Virchows Arch. 2017 Aug;471(2):221-233. doi: 10.1007/s00428-017-2183-2. Epub 2017 Jul 20. Review.

PMID:
28730537
11.

Use of the GeneReader NGS System in a clinical pathology laboratory: a comparative study.

Koitzsch U, Heydt C, Attig H, Immerschitt I, Merkelbach-Bruse S, Fammartino A, Büttner RH, Kong Y, Odenthal M.

J Clin Pathol. 2017 Aug;70(8):725-728. doi: 10.1136/jclinpath-2017-204342. Epub 2017 Apr 11.

12.

ALKG1269A mutation as a potential mechanism of acquired resistance to crizotinib in an ALK-rearranged inflammatory myofibroblastic tumor.

Michels SYF, Scheel AH, Wündisch T, Heuckmann JM, Menon R, Puesken M, Kobe C, Pasternack H, Heydt C, Scheffler M, Fischer R, Schultheis AM, Merkelbach-Bruse S, Heukamp L, Büttner R, Wolf J.

NPJ Precis Oncol. 2017 Mar 20;1(1):4. doi: 10.1038/s41698-017-0004-3. eCollection 2017.

13.

Block Excision of Iridociliary Tumors Enables Molecular Profiling and Immune Vaccination.

Heindl LM, Koch KR, Hermann MM, Merkelbach-Bruse S, Schultheis AM, Wagener S, Büttner R, Mauch C, Schuler-Thurner B, Schuler G, Cursiefen C.

Ophthalmology. 2017 Feb;124(2):268-270. doi: 10.1016/j.ophtha.2016.09.011. Epub 2016 Oct 27. Review. No abstract available.

PMID:
28195057
14.

Clinicopathological and molecular features of a large cohort of gastrointestinal stromal tumors (GISTs) and review of the literature: BRAF mutations in KIT/PDGFRA wild-type GISTs are rare events.

Huss S, Pasternack H, Ihle MA, Merkelbach-Bruse S, Heitkötter B, Hartmann W, Trautmann M, Gevensleben H, Büttner R, Schildhaus HU, Wardelmann E.

Hum Pathol. 2017 Apr;62:206-214. doi: 10.1016/j.humpath.2017.01.005. Epub 2017 Feb 1. Review.

PMID:
28159677
15.

Identification of ALK, ROS1, and RET Fusions by a Multiplexed mRNA-Based Assay in Formalin-Fixed, Paraffin-Embedded Samples from Advanced Non-Small-Cell Lung Cancer Patients.

Reguart N, Teixidó C, Giménez-Capitán A, Paré L, Galván P, Viteri S, Rodríguez S, Peg V, Aldeguer E, Viñolas N, Remon J, Karachaliou N, Conde E, Lopez-Rios F, Nadal E, Merkelbach-Bruse S, Büttner R, Rosell R, Molina-Vila MA, Prat A.

Clin Chem. 2017 Mar;63(3):751-760. doi: 10.1373/clinchem.2016.265314. Epub 2017 Jan 10.

16.

[Report on sessions and the general meeting of the working group Molecular Pathology].

Dietmaier W, Merkelbach-Bruse S, Jung A, Lehmann U.

Pathologe. 2016 Nov;37(Suppl 2):249-252. German. No abstract available.

PMID:
27638533
17.

ALK evaluation in the world of multiplex testing: Network Genomic Medicine (NGM): the Cologne model for implementing personalised oncology.

Heydt C, Kostenko A, Merkelbach-Bruse S, Wolf J, Büttner R.

Ann Oncol. 2016 Sep;27 Suppl 3:iii25-iii34. doi: 10.1093/annonc/mdw303. Review.

PMID:
27573753
18.

HR23b expression is a potential predictive biomarker for HDAC inhibitor treatment in mesenchymal tumours and is associated with response to vorinostat.

Angelika Ihle M, Merkelbach-Bruse S, Hartmann W, Bauer S, Ratner N, Sonobe H, Nishio J, Larsson O, Åman P, Pedeutour F, Taguchi T, Wardelmann E, Buettner R, Schildhaus HU.

J Pathol Clin Res. 2016 Feb 5;2(2):59-71. doi: 10.1002/cjp2.35. eCollection 2016 Apr.

19.

Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors.

Ortiz-Cuaran S, Scheffler M, Plenker D, Dahmen L, Scheel AH, Fernandez-Cuesta L, Meder L, Lovly CM, Persigehl T, Merkelbach-Bruse S, Bos M, Michels S, Fischer R, Albus K, König K, Schildhaus HU, Fassunke J, Ihle MA, Pasternack H, Heydt C, Becker C, Altmüller J, Ji H, Müller C, Florin A, Heuckmann JM, Nuernberg P, Ansén S, Heukamp LC, Berg J, Pao W, Peifer M, Buettner R, Wolf J, Thomas RK, Sos ML.

Clin Cancer Res. 2016 Oct 1;22(19):4837-4847. Epub 2016 Jun 1.

20.

The impact of sequencing on diagnosis and treatment of malignant melanoma.

Castiglione R, Ihle MA, Heydt C, Schultheis AM, Merkelbach-Bruse S, Mauch C, Büttner R.

Expert Rev Mol Diagn. 2016;16(4):423-33. doi: 10.1586/14737159.2016.1147958. Epub 2016 Feb 19. Review.

PMID:
26822148
21.

MDM2 gene amplification in esophageal carcinoma.

Michalk M, Meinrath J, Künstlinger H, Koitzsch U, Drebber U, Merkelbach-Bruse S, Bollschweiler E, Kloth M, Hartmann W, Hölscher A, Quaas A, Grimminger PP, Odenthal M.

Oncol Rep. 2016 Apr;35(4):2223-7. doi: 10.3892/or.2016.4578. Epub 2016 Jan 20.

PMID:
26796597
22.

Clinicopathological Characteristics of RET Rearranged Lung Cancer in European Patients.

Michels S, Scheel AH, Scheffler M, Schultheis AM, Gautschi O, Aebersold F, Diebold J, Pall G, Rothschild S, Bubendorf L, Hartmann W, Heukamp L, Schildhaus HU, Fassunke J, Ihle MA, Künstlinger H, Heydt C, Fischer R, Nogovà L, Mattonet C, Hein R, Adams A, Gerigk U, Schulte W, Lüders H, Grohé C, Graeven U, Müller-Naendrup C, Draube A, Kambartel KO, Krüger S, Schulze-Olden S, Serke M, Engel-Riedel W, Kaminsky B, Randerath W, Merkelbach-Bruse S, Büttner R, Wolf J.

J Thorac Oncol. 2016 Jan;11(1):122-7. doi: 10.1016/j.jtho.2015.09.016.

23.

Implementing amplicon-based next generation sequencing in the diagnosis of small cell lung carcinoma metastases.

Meder L, König K, Fassunke J, Ozretić L, Wolf J, Merkelbach-Bruse S, Heukamp LC, Buettner R.

Exp Mol Pathol. 2015 Dec;99(3):682-6. doi: 10.1016/j.yexmp.2015.11.002. Epub 2015 Nov 10.

PMID:
26546837
24.

Utility of different massive parallel sequencing platforms for mutation profiling in clinical samples and identification of pitfalls using FFPE tissue.

Fassunke J, Haller F, Hebele S, Moskalev EA, Penzel R, Pfarr N, Merkelbach-Bruse S, Endris V.

Int J Mol Med. 2015 Nov;36(5):1233-43. doi: 10.3892/ijmm.2015.2339. Epub 2015 Sep 7.

25.

NOTCH, ASCL1, p53 and RB alterations define an alternative pathway driving neuroendocrine and small cell lung carcinomas.

Meder L, König K, Ozretić L, Schultheis AM, Ueckeroth F, Ade CP, Albus K, Boehm D, Rommerscheidt-Fuss U, Florin A, Buhl T, Hartmann W, Wolf J, Merkelbach-Bruse S, Eilers M, Perner S, Heukamp LC, Buettner R.

Int J Cancer. 2016 Feb 15;138(4):927-38. doi: 10.1002/ijc.29835. Epub 2015 Sep 25.

26.

Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer Patients.

König K, Peifer M, Fassunke J, Ihle MA, Künstlinger H, Heydt C, Stamm K, Ueckeroth F, Vollbrecht C, Bos M, Gardizi M, Scheffler M, Nogova L, Leenders F, Albus K, Meder L, Becker K, Florin A, Rommerscheidt-Fuss U, Altmüller J, Kloth M, Nürnberg P, Henkel T, Bikár SE, Sos ML, Geese WJ, Strauss L, Ko YD, Gerigk U, Odenthal M, Zander T, Wolf J, Merkelbach-Bruse S, Buettner R, Heukamp LC.

J Thorac Oncol. 2015 Jul;10(7):1049-57. doi: 10.1097/JTO.0000000000000570.

27.

FGFR2 is overexpressed in myxoid liposarcoma and inhibition of FGFR signaling impairs tumor growth in vitro.

Künstlinger H, Fassunke J, Schildhaus HU, Brors B, Heydt C, Ihle MA, Mechtersheimer G, Wardelmann E, Büttner R, Merkelbach-Bruse S.

Oncotarget. 2015 Aug 21;6(24):20215-30.

28.

Activating ERBB2/HER2 mutations indicate susceptibility to pan-HER inhibitors in Lynch and Lynch-like colorectal cancer.

Kloth M, Ruesseler V, Engel C, Koenig K, Peifer M, Mariotti E, Kuenstlinger H, Florin A, Rommerscheidt-Fuss U, Koitzsch U, Wodtke C, Ueckeroth F, Holzapfel S, Aretz S, Propping P, Loeffler M, Merkelbach-Bruse S, Odenthal M, Friedrichs N, Heukamp LC, Zander T, Buettner R.

Gut. 2016 Aug;65(8):1296-305. doi: 10.1136/gutjnl-2014-309026. Epub 2015 Apr 28.

PMID:
26001389
29.

Spatial Tumor Heterogeneity in Lung Cancer with Acquired Epidermal Growth Factor Receptor-Tyrosine Kinase Inhibitor Resistance: Targeting High-Level MET-Amplification and EGFR T790M Mutation Occurring at Different Sites in the Same Patient.

Scheffler M, Merkelbach-Bruse S, Bos M, Fassunke J, Gardizi M, Michels S, Groneck L, Schultheis AM, Malchers F, Leenders F, Kobe C, König K, Heukamp LC, Sos ML, Thomas RK, Büttner R, Wolf J.

J Thorac Oncol. 2015 Jun;10(6):e40-3. doi: 10.1097/JTO.0000000000000503. No abstract available.

30.

miRNA-221 and miRNA-222 induce apoptosis via the KIT/AKT signalling pathway in gastrointestinal stromal tumours.

Ihle MA, Trautmann M, Kuenstlinger H, Huss S, Heydt C, Fassunke J, Wardelmann E, Bauer S, Schildhaus HU, Buettner R, Merkelbach-Bruse S.

Mol Oncol. 2015 Aug;9(7):1421-33. doi: 10.1016/j.molonc.2015.03.013. Epub 2015 Apr 10.

31.

Massively parallel sequencing fails to detect minor resistant subclones in tissue samples prior to tyrosine kinase inhibitor therapy.

Heydt C, Kumm N, Fassunke J, Künstlinger H, Ihle MA, Scheel A, Schildhaus HU, Haller F, Büttner R, Odenthal M, Wardelmann E, Merkelbach-Bruse S.

BMC Cancer. 2015 Apr 15;15:291. doi: 10.1186/s12885-015-1311-0.

32.

ROS1 rearrangements in lung adenocarcinoma: prognostic impact, therapeutic options and genetic variability.

Scheffler M, Schultheis A, Teixido C, Michels S, Morales-Espinosa D, Viteri S, Hartmann W, Merkelbach-Bruse S, Fischer R, Schildhaus HU, Fassunke J, Sebastian M, Serke M, Kaminsky B, Randerath W, Gerigk U, Ko YD, Krüger S, Schnell R, Rothe A, Kropf-Sanchen C, Heukamp L, Rosell R, Büttner R, Wolf J.

Oncotarget. 2015 Apr 30;6(12):10577-85.

33.

MET gene copy number alterations and expression of MET and hepatocyte growth factor are potential biomarkers in angiosarcomas and undifferentiated pleomorphic sarcomas.

Schmitz K, Koeppen H, Binot E, Fassunke J, Künstlinger H, Ihle MA, Heydt C, Wardelmann E, Büttner R, Merkelbach-Bruse S, Rüschoff J, Schildhaus HU.

PLoS One. 2015 Apr 6;10(4):e0120079. doi: 10.1371/journal.pone.0120079. eCollection 2015.

34.

c-myc copy number gain is a powerful prognosticator of disease outcome in cervical dysplasia.

Kübler K, Heinenberg S, Rudlowski C, Keyver-Paik MD, Abramian A, Merkelbach-Bruse S, Büttner R, Kuhn W, Schildhaus HU.

Oncotarget. 2015 Jan 20;6(2):825-35.

35.

MET amplification status in therapy-naïve adeno- and squamous cell carcinomas of the lung.

Schildhaus HU, Schultheis AM, Rüschoff J, Binot E, Merkelbach-Bruse S, Fassunke J, Schulte W, Ko YD, Schlesinger A, Bos M, Gardizi M, Engel-Riedel W, Brockmann M, Serke M, Gerigk U, Hekmat K, Frank KF, Reiser M, Schulz H, Krüger S, Stoelben E, Zander T, Wolf J, Buettner R.

Clin Cancer Res. 2015 Feb 15;21(4):907-15. doi: 10.1158/1078-0432.CCR-14-0450. Epub 2014 Dec 9.

36.

PIK3CA mutations in non-small cell lung cancer (NSCLC): genetic heterogeneity, prognostic impact and incidence of prior malignancies.

Scheffler M, Bos M, Gardizi M, König K, Michels S, Fassunke J, Heydt C, Künstlinger H, Ihle M, Ueckeroth F, Albus K, Serke M, Gerigk U, Schulte W, Töpelt K, Nogova L, Zander T, Engel-Riedel W, Stoelben E, Ko YD, Randerath W, Kaminsky B, Panse J, Becker C, Hellmich M, Merkelbach-Bruse S, Heukamp LC, Büttner R, Wolf J.

Oncotarget. 2015 Jan 20;6(2):1315-26.

37.

[Report of the working group on molecular pathology 2014].

Dietmaier W, Merkelbach-Bruse S, Dahl E.

Pathologe. 2014 Nov;35 Suppl 2:298-9. doi: 10.1007/s00292-014-1981-4. German. No abstract available.

PMID:
25394983
38.

Comparison of pre-analytical FFPE sample preparation methods and their impact on massively parallel sequencing in routine diagnostics.

Heydt C, Fassunke J, Künstlinger H, Ihle MA, König K, Heukamp LC, Schildhaus HU, Odenthal M, Büttner R, Merkelbach-Bruse S.

PLoS One. 2014 Aug 8;9(8):e104566. doi: 10.1371/journal.pone.0104566. eCollection 2014.

39.

Sensitive and specific detection of EML4-ALK rearrangements in non-small cell lung cancer (NSCLC) specimens by multiplex amplicon RNA massive parallel sequencing.

Moskalev EA, Frohnauer J, Merkelbach-Bruse S, Schildhaus HU, Dimmler A, Schubert T, Boltze C, König H, Fuchs F, Sirbu H, Rieker RJ, Agaimy A, Hartmann A, Haller F.

Lung Cancer. 2014 Jun;84(3):215-21. doi: 10.1016/j.lungcan.2014.03.002. Epub 2014 Mar 13.

PMID:
24674157
40.

High-resolution melting analysis is a sensitive diagnostic tool to detect imatinib-resistant and imatinib-sensitive PDGFRA exon 18 mutations in gastrointestinal stromal tumors.

Künstlinger H, Binot E, Merkelbach-Bruse S, Huss S, Wardelmann E, Buettner R, Schildhaus HU.

Hum Pathol. 2014 Mar;45(3):573-82. doi: 10.1016/j.humpath.2013.10.025. Epub 2013 Nov 4.

PMID:
24444465
41.

Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAF mutations.

Ihle MA, Fassunke J, König K, Grünewald I, Schlaak M, Kreuzberg N, Tietze L, Schildhaus HU, Büttner R, Merkelbach-Bruse S.

BMC Cancer. 2014 Jan 10;14:13. doi: 10.1186/1471-2407-14-13.

42.

[Report on the general assembly of the Working Group on Molecular Pathology during the 97th annual congress of the German Society of Pathology (DGP) in Heidelberg].

Dietmaier W, Penzel R, Merkelbach-Bruse S.

Pathologe. 2013 Nov;34 Suppl 2:295-6. doi: 10.1007/s00292-013-1853-3. German. No abstract available.

PMID:
24196636
43.

Therapeutic strategies in male breast cancer: clinical implications of chromosome 17 gene alterations and molecular subtypes.

Schildhaus HU, Schroeder L, Merkelbach-Bruse S, Binot E, Büttner R, Kuhn W, Rudlowski C.

Breast. 2013 Dec;22(6):1066-71. doi: 10.1016/j.breast.2013.08.008. Epub 2013 Sep 27.

PMID:
24080492
44.

Gastrointestinal stromal tumors with KIT exon 9 mutations: Update on genotype-phenotype correlation and validation of a high-resolution melting assay for mutational testing.

Künstlinger H, Huss S, Merkelbach-Bruse S, Binot E, Kleine MA, Loeser H, Mittler J, Hartmann W, Hohenberger P, Reichardt P, Büttner R, Wardelmann E, Schildhaus HU.

Am J Surg Pathol. 2013 Nov;37(11):1648-59. doi: 10.1097/PAS.0b013e3182986b88.

PMID:
24061512
45.

Fibroblast growth factor receptor 1 gene amplification in pancreatic ductal adenocarcinoma.

Lehnen NC, von Mässenhausen A, Kalthoff H, Zhou H, Glowka T, Schütte U, Höller T, Riesner K, Boehm D, Merkelbach-Bruse S, Kirfel J, Perner S, Gütgemann I.

Histopathology. 2013 Aug;63(2):157-66. doi: 10.1111/his.12115. Epub 2013 Jun 28. Erratum in: Histopathology. 2013 Dec;63(6):886.

PMID:
23808822
46.

Chromogenic in situ hybridization is a reliable assay for detection of ALK rearrangements in adenocarcinomas of the lung.

Schildhaus HU, Deml KF, Schmitz K, Meiboom M, Binot E, Hauke S, Merkelbach-Bruse S, Büttner R.

Mod Pathol. 2013 Nov;26(11):1468-77. doi: 10.1038/modpathol.2013.95. Epub 2013 Jun 7.

47.

Anaplastic lymphoma kinase (ALK) gene rearrangement in non-small cell lung cancer (NSCLC): results of a multi-centre ALK-testing.

V Laffert M, Warth A, Penzel R, Schirmacher P, Jonigk D, Kreipe H, Schildhaus HU, Merkelbach-Bruse S, Büttner R, Reu S, Kerler R, Jung A, Kirchner T, Wölfel C, Petersen I, Rodriguez R, Jochum W, Bartsch H, Fisseler-Eckhoff A, Berg E, Lenze D, Dietel M, Hummel M.

Lung Cancer. 2013 Aug;81(2):200-6. doi: 10.1016/j.lungcan.2013.04.015. Epub 2013 May 10.

PMID:
23669200
48.

Deep ion sequencing of amplicon adapter ligated libraries: a novel tool in molecular diagnostics of formalin fixed and paraffin embedded tissues.

Becker K, Vollbrecht C, Koitzsch U, Koenig K, Fassunke J, Huss S, Nuernberg P, Heukamp LC, Buettner R, Odenthal M, Altmueller J, Merkelbach-Bruse S.

J Clin Pathol. 2013 Sep;66(9):803-6. doi: 10.1136/jclinpath-2013-201549. Epub 2013 Apr 25.

PMID:
23618693
49.

A subset of gastrointestinal stromal tumors previously regarded as wild-type tumors carries somatic activating mutations in KIT exon 8 (p.D419del).

Huss S, Künstlinger H, Wardelmann E, Kleine MA, Binot E, Merkelbach-Bruse S, Rüdiger T, Mittler J, Hartmann W, Büttner R, Schildhaus HU.

Mod Pathol. 2013 Jul;26(7):1004-12. doi: 10.1038/modpathol.2013.47. Epub 2013 Apr 19.

50.

A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis.

Neuhann TM, Mansmann V, Merkelbach-Bruse S, Klink B, Hellinger A, Höffkes HG, Wardelmann E, Schildhaus HU, Tinschert S.

Am J Surg Pathol. 2013 Jun;37(6):898-905. doi: 10.1097/PAS.0b013e31827bc071.

PMID:
23598963

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