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List of works by Marjolijn J L Ligtenberg

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Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.

scientific article published on 21 December 2008
A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

scientific article published on 18 October 2013
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

scientific article
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

scientific article
Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors

scientific article published on 10 December 2013
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

scientific article published on 8 December 2010
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.

scientific article published on 17 August 2014
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome

scientific article
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009
Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

scientific article published on 4 August 2004
Guidance for laboratories performing molecular pathology for cancer patients

scientific article
EGFR and KRAS mutations in lung carcinomas in the Dutch population: increased EGFR mutation frequency in malignant pleural effusion of lung adenocarcinoma

scientific article
Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

scientific article published in March 2011
Germline copy number variation and cancer risk

scientific article published on 08 April 2010
Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.

scientific article published in December 2003
External quality assessment for KRAS testing is needed: setup of a European program and report of the first joined regional quality assessment rounds

scientific article published on 26 March 2011
High sensitivity of both sequencing and real-time PCR analysis of KRAS mutations in colorectal cancer tissue

scientific article published on 13 May 2010
A brief retrospective report on the feasibility of epidermal growth factor receptor and KRAS mutation analysis in transesophageal ultrasound- and endobronchial ultrasound-guided fine needle cytological aspirates

scientific article
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

scientific article
EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients

scientific article published on June 2013
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

scientific article
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

scientific article
Intragenic deletion of CDH1 as the inactivating mechanism of the wild-type allele in an HDGC tumour

scientific article published on 01 March 2004
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.

scientific article
Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients

scientific article
Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags

scientific article
A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic setting

article
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

scientific article published on 29 June 2009
Guideline on the requirements of external quality assessment programs in molecular pathology.

scientific article
Interpretation of immunohistochemistry for mismatch repair proteins is only reliable in a specialized setting

scientific article published on 01 August 2008
Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance

scientific article published on September 1, 2012
Opportunities for immunotherapy in microsatellite instable colorectal cancer

scientific article
Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion

scientific article published on 19 July 2011
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

scientific article published on 21 October 2016
A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

scientific article published on 06 February 2009
Germline epigenetic silencing of the tumor suppressor gene PTPRJ in early-onset familial colorectal cancer

scientific article published on 29 October 2010
Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.

scientific article published on 29 November 2012
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.

scientific article
Dietary factors and microsatellite instability in sporadic colon carcinomas.

scientific article
Development of a semi-conductor sequencing-based panel for genotyping of colon and lung cancer by the Onconetwork consortium

scientific article
Epigenetic targeting in pancreatic cancer

scientific article published on 03 January 2014
More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling

scientific article published on June 2014
External quality assessment unravels interlaboratory differences in quality of RAS testing for anti-EGFR therapy in colorectal cancer

scientific article
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

scientific article
Most patients with colorectal tumors at young age do not visit a cancer genetics clinic

scientific article published on August 2008
The epigenetics of (hereditary) colorectal cancer

scientific article
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

scientific article published on 01 February 2019
Higher quality of molecular testing, an unfulfilled priority: Results from external quality assessment for KRAS mutation testing in colorectal cancer

scientific article published on 14 March 2014

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