Monika Morak

Monika Morak

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Monika Morak

Monika Morak

Publications by authors named "Monika Morak"

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Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.

Eur J Hum Genet 2019 Dec 22;27(12):1808-1820. Epub 2019 Jul 22.

Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Ziemssenstr. 1, 80336, Munich, Germany.

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http://dx.doi.org/10.1038/s41431-019-0472-8DOI Listing
December 2019

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Genet Med 2019 Jul 24. Epub 2019 Jul 24.

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41436-019-0596-9DOI Listing
July 2019

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.

Hered Cancer Clin Pract 2019 28;17. Epub 2019 Feb 28.

4Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, part of Oslo University Hospital, Olso, Norway.

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-019-0106-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394091PMC
February 2019

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

Fam Cancer 2018 01;17(1):141-153

Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1007/s10689-017-0011-0DOI Listing
January 2018

Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.

Fam Cancer 2017 Oct;16(4):491-500

Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Ziemssenstr. 1, 80336, Munich, Germany.

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http://dx.doi.org/10.1007/s10689-017-9975-zDOI Listing
October 2017

Biallelic MUTYH mutations can mimic Lynch syndrome.

Eur J Hum Genet 2014 Nov 12;22(11):1334-7. Epub 2014 Feb 12.

1] Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany [2] MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200426PMC
November 2014

An American founder mutation in MLH1.

Int J Cancer 2012 May 30;130(9):2088-95. Epub 2011 Aug 30.

Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1002/ijc.26233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3266960PMC
May 2012

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.

J Med Genet 2011 Aug 28;48(8):513-9. Epub 2011 Jun 28.

Medical Department, Campus Innenstadt, Klinikum der Universität, Munich, Germany; MGZ-Center of Medical Genetics, Munich, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2011-100050DOI Listing
August 2011

First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.

Eur J Cancer 2011 May 30;47(7):1046-55. Epub 2010 Dec 30.

University Hospital of the Ludwig-Maximilians-University, Campus Innenstadt, Ziemssenstr. 1, 80336 Munich, Germany.

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http://dx.doi.org/10.1016/j.ejca.2010.11.016DOI Listing
May 2011

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy.

Neuromuscul Disord 2010 Feb 16;20(2):131-5. Epub 2009 Dec 16.

Mitochondrial Research Group and NCG Rare Mitochondrial Disorders of Adults and Children Service, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/j.nmd.2009.10.010DOI Listing
February 2010

Report on de-novo mutation in the MSH2 gene as a rare event in hereditary nonpolyposis colorectal cancer.

Eur J Gastroenterol Hepatol 2008 Nov;20(11):1101-5

Department of Internal Medicine, Campus Innenstadt, University Hospital, Ludwig-Maximilians-University, Munich, Germany.

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http://pdfs.journals.lww.com/eurojgh/2008/11000/Report_on_de
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http://dx.doi.org/10.1097/MEG.0b013e328305e185DOI Listing
November 2008