1.
Metzker ML: Sequencing technologies - the next generation. Nat Rev Genet 2010;11:31-46.
2.
McLaughlin HM: A systematic approach to the reporting of medically relevant findings from whole genome sequencing. BMC Med Genet 2014;15:134.
3.
O'Rawe J: Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med 2013;5:28.
4.
Yang Y, et al: Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med 2013;369:1502-1511.
5.
Richards S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-423.
6.
Matthijs G; et al. Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 2016;24:2-5.
7.
Høberg-Vetti H, et al: BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. Eur J Hum Genet 2016;24:881-888.
8.
Chapman PB, et al: Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 2011;364:2507-2516.
9.
Hyman DM, et al: Vemurafenib in multiple nonmelanoma cancers with BRAF V600 mutations. N Engl J Med 2015;373:726-736.
10.
Murtaza M, et al: Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA. Nature 2013;497:108-112.
11.
Khurana E, et al: Role of non-coding sequence variants in cancer. Nat Rev Genet 2016;17:93-108.
12.
Beschluss des Bewertungsausschusses nach § 87 Abs. 1 Satz 1 SGB V in seiner 372. Sitzung am 11. März 2016 zur Änderung des Einheitlichen Bewertungsmaßstabes (EBM) mit Wirkung zum 1. Juli 2016.
13.
Hummel M: Voraussetzungen für die molekularbiologische Diagnostik in der Pathologie. Verh Dtsch Ges Pathol 1994;78:161-165.
14.
Sanger F, Nicklen S, Coulson AR: DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A 1977;74:5463-5467.
15.
Ellis LW: PARP inhibitors in cancer therapy: promise, progress and puzzles. Cancer Cell 2011;19:165-167.
16.
Ledermann J, et al: Olaparib maintenance therapy in platinum-sensitive relapsed ovarian cancer. N Engl J Med 2012;366:1382-1392.
17.
Jänne PA, et al: AZD9291 in EGFR inhibitor-resistant non-small-cell lung cancer. N Engl J Med 2015;372:1689-1699.
18.
Sherwood JL, et al: Optimised Pre-analytical methods improve KRAS Mutation detection in circulating tumour DNA (ctDNA) from patients with non-small cell lung cancer (NSCLC). PLoS ONE 2016;11:e0150197.
19.
Sausen, M., et al: Clinical implications of genomic alterations in the tumour and circulation of pancreatic cancer patients. Nat Commun 2015;6:7686.
20.
Norton SE, et al: A new blood collection device minimizes cellular DNA release during sample storage and shipping when compared to a standard device. J Clin Lab Anal 2013;27:305-311.
21.
Ritter J, et al: Donor CD4 T cell diversity determines virus reactivation in patients after HLA-matched allogeneic stem cell transplantation. Am J Transplant 2015;15:2170-2179.
22.
Schwaederle M, et al: Impact of precision medicine in diverse cancers: a meta-analysis of phase II clinical trials. J Clin Oncol 2015;33:3817-3825.
23.
Kostenko A: An integrated cost-effectiveness and outcome analysis based on multiplex lung cancer genotyping in the network genomic medicine. IASLC-Congress 2015;ORAL06.07.
24.
König K, et al: Implementation of Amplicon parallel sequencing leads to improvement of diagnosis and therapy of lung cancer patients. J Thorac Oncol 2015;10:1049-1057.
25.
Shaw AT, et al: Clinical activity of crizotinib in advanced non-small cell lung cancer (NSCLC) harboring ROS1 gene rearrangement. J Clin Oncol 2012;30 (suppl):abstr 7508.
26.
Van Allen EM, et al: Genomic correlates of response to CTLA-4 blockade in metastatic melanoma. Science 2015;350 :207-211.
27.
Rizvi NA, et al: Cancer immunology. Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer. Science 2015;348:124-128.
28.
Placke T, et al: Requirement for CDK6 in MLL-rearranged acute myeloid leukemia. Blood 2014;124:13-23.
29.
Farmer H, et al: Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 2005;434:917-921.
30.
DGHO-Information für Ärzte: Patientenaufklärung vor Veranlassung einer BRCA-Mutationsanalyse zur gezielten Arzneimitteltherapie bei Ovarial- oder Mammakarzinom. www.onkopedia.com/de/wissensdatenbank/wissensdatenbank/brcaness/brcaness (letzter Zugriff 14. Juni 2016).
31.
Huster S, Schmutzler RK: Rechtliche Aspekte aktueller Entwicklungen in der molekulargenetischen Tumordiagnostik. Medizinrecht 2015;33:248-251.
32.
Plon SE, et al: Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008;29:1282-1291.
33.
Couch FJ, et al: Assessment of functional effects of unclassified genetic variants. Hum Mutat 2008;29:1314-1326.
34.
Lindor NM, et al: BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management. Oncologist 2013;18:518-524.
35.
Meindl A, et al: Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 2010;42:410-414.
36.
Johns LE, Houlston RS: A systematic review and meta-analysis of familial colorectal cancer risk. Am J Gastroenterol. 2001;96:2992-3003.
37.
Lynch HT, et al: Hereditary nonpolyposis colorectal carcinoma (HNPCC) and HNPCC-like families: problems in diagnosis, surveillance, and management. Cancer 2004;100:53-64.
38.
Steinke V, et al: Erblicher Darmkrebs ohne Polyposis. Dtsch Arztebl Int 2013;110:32-38.
39.
Vasen HF, et al: New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999;116:1453-1456.
40.
Umar A, et al: Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261-268.
41.
Dudley JC, et al: Microsatellite instability as a biomarker for PD-1 blockade. Clin Cancer Res 2016;22:813-820.
42.
Funkhouser WK Jr, et al: Relevance, pathogenesis, and testing algorithm for mismatch repair-defective colorectal carcinomas: a report of the association for molecular pathology. J Mol Diagn 2012;14:91-103.
43.
Gendiagnostikgesetz vom 31. Juli 2009 (BGBl. I S. 2529, 3672), das durch Artikel 2 Absatz 31 u. Artikel 4 Absatz 18 des Gesetzes vom 7. August 2013 (BGBl. I S. 3154) geändert worden ist.
44.
Heidemann S, Schillhorn K. Gendiagnostikgesetz. Kommentar für die Praxis. Heidelberg, medhochzwei Verlag, 2011.8
45.
Deutsche Gesellschaft für Hämatologie und Onkologie: Aufklärung und Einwilligungserklärung zur genetischen Untersuchung von BRCA-Mutationen am Tumorgewebe. www.onkopedia.com/de/wissensdatenbank/wissensdatenbank/brcaness/Aufklaerung%20und%20Einwilligung%20-%20BRCA%20Tumorgewebe%202015.1.pdf (letzter Zugriff 14. Juni 2016).
46.
Stroth M, Lüftner D: Patientenaufklärung vor BRCA-Mutationsanalyse. Frauenarzt 2015;56:988-995.
47.
Deutscher Ethikrat: Die Zukunft der genetischen Diagnostik - von der Forschung in die klinische Anwendung. Stellungnahme. 2013. www.ethikrat.org/dateien/pdf/stellungnahme-zukunft-der-genetischen-diagnostik.pdf (letzter Zugriff 14. Juni 2016).
48.
Kitzman JO, et al: Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med 2012;4:137ra76.
49.
Ambacher N, et al: Personalisierte Medizin der Zukunft. Trendstudie des 2b AHEAD ThinkTanks, Leipzig. 2015.www.2bahead.com/studien/trendstudie/ detail/trendstudie-personalisierte-medizin (letzter Zugriff 14. Juni 2016).
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently...
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
2016
You do not currently have access to this content.