List of works by Marjolijn J L Ligtenberg

"The leading role of pathology in assessing the somatic molecular alterations of cancer: Position Paper of the European Society of Pathology": letter to the Editor

scientific article published on 06 August 2020

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

article

A Multicenter Study to Validate the Reproducibility of MSI Testing With a Panel of 5 Quasimonomorphic Mononucleotide Repeats ⬇️

scientific article published on December 1, 2010

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

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

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

scientific article

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

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients

scientific 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

Abstract 3575: The OncoNetwork Consortium: A global collaborative research study on the development and verification of an Ion AmpliSeq RNA gene lung fusion panel

Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.

scientific article

Added value of family history in counseling about risk of BRCA1/2 mutation in early-onset epithelial ovarian cancer.

scientific article published in October 2013

Advances and challenges in precision medicine in salivary gland cancer

scientific article published on 14 October 2019

Allelic imbalance in the diagnosis of benign, atypical and malignant Spitz tumours

scientific article

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

scientific article published on 7 December 2017

Are there geographical differences in the frequency of SYT-SSX1 and SYT-SSX2 chimeric transcripts in synovial sarcoma?

scientific article published on 01 January 2004

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article

BRCA Testing by Single-Molecule Molecular Inversion Probes

scientific article

CDKN2A (INK4A-ARF) mutation analysis to distinguish cutaneous melanoma metastasis from a second primary melanoma.

scientific article published in April 2007

CDKN2A but not TP53 mutations nor HPV presence predict poor outcome in metastatic squamous cell carcinoma of the skin.

scientific article published in May 2010

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

scientific article

Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies

scientific article published on 19 November 2020

Clinical utility gene card for: Hereditary diffuse gastric cancer (HDGC)

scientific article published on 27 February 2013

Clinical, Pathology, Genetic, and Molecular Features of Colorectal Tumors in Adolescents and Adults 25 Years or Younger

scientific article published on 22 June 2020

Colorectal metastasis to the gallbladder mimicking a primary gallbladder malignancy: histopathological and molecular characteristics

scientific article published on 18 July 2019

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

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

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

scientific article published on 05 August 2009

Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2.

scientific article

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

scientific article published on 20 July 2016

Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases

scientific article published on 11 February 2019

Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material

scientific article published on 07 April 2020

Cytogenetic and molecular analysis of early stage renal cell carcinomas in a family with a translocation (2;3)(q35;q21)

article

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

scientific article

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

scientific article

Dietary factors and microsatellite instability in sporadic colon carcinomas.

scientific article

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

EBUS and EUS guided fine needle aspirations for molecular diagnostic analysis in lung cancer.

scientific article published in August 2012

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

scientific article

EGFR and KRAS quality assurance schemes in pathology: generating normative data for molecular predictive marker analysis in targeted therapy.

scientific article

EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients

scientific article published on June 2013

Effect of Pneumatic Tube System Transport on Cell-Free DNA

scientific article published on 05 December 2020

Epigenetic targeting in pancreatic cancer

scientific article published on 03 January 2014

Evaluation of a hybrid capture-based pan-cancer panel for analysis of treatment stratifying oncogenic aberrations and processes

scientific article published on 20 March 2020

Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome

scientific article published on 08 June 2020

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

External quality assessment unravels interlaboratory differences in quality of RAS testing for anti-EGFR therapy in colorectal cancer

scientific article

Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance.

scientific article published in September 2012

Functional characterisation of a novel class of in-frame insertion variants of KRAS and HRAS.

scientific article published on 3 June 2019

Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation

scientific article published on 01 March 2015

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

scientific article (publication date: 2013)

Germline copy number variation and cancer risk

scientific article published on 08 April 2010

Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development.

scientific article published on 26 March 2015

Germline epigenetic silencing of the tumor suppressor gene PTPRJ in early-onset familial colorectal cancer

scientific article published on 29 October 2010

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome

scientific article

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.

scientific article

Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients

scientific article published in June 2017

Guidance for laboratories performing molecular pathology for cancer patients

scientific article

Guideline on the requirements of external quality assessment programs in molecular pathology.

scientific article

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

scientific article

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

High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling

scientific article published on 4 November 2015

High sensitivity of both sequencing and real-time PCR analysis of KRAS mutations in colorectal cancer tissue

scientific article published on 13 May 2010

High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer

scientific article published on 19 January 2018

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

INK4-ARF and p53 mutations in metastatic cutaneous squamous cell carcinoma: case report and archival study on the use of Ink4a-ARF and p53 mutation analysis in identification of the corresponding primary tumor

scientific article published on January 2005

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility

scientific article

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

scientific article

Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.

scientific article published on 29 November 2012

Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposis

scientific article published on 25 November 2008

Impact of DNA damage repair defects and aggressive variant features on response to carboplatin-based chemotherapy in metastatic castration-resistant prostate cancer

scientific article published on 23 September 2020

Implementation of Novel Molecular Biomarkers for Non-small Cell Lung Cancer in the Netherlands: How to Deal With Increasing Complexity

scientific article published on 01 January 2019

Improving calculation, interpretation and communication of familial colorectal cancer risk: protocol for a randomized controlled trial

scientific article

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

scientific article published on 01 August 2008

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

scientific article published on 01 March 2004

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

scientific article published on 19 July 2011

Massive gastric polyposis associated with a germline SMAD4 gene mutation

scientific article

Medullary Pancreatic Carcinoma Due to Somatic POLE Mutation: A Distinctive Pancreatic Carcinoma With Marked Long-Term Survival

scientific article published on 01 August 2020

Microsatellite instability screening in colorectal adenomas to detect Lynch syndrome patients? A systematic review and meta-analysis

scientific article published on 06 November 2019

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours

scientific article

Molecular analysis of primary gastric cancer, corresponding xenografts, and 2 novel gastric carcinoma cell lines reveals novel alterations in gastric carcinogenesis

scientific article published on 21 March 2007

Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome

scientific article published on 05 February 2020

Molecular tumour boards and molecular diagnostics for patients with cancer in the Netherlands: experiences, challenges, and aspirations

scientific article published on 27 May 2019

More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling

scientific article published on June 2014

More differences between HNPCC-related and sporadic carcinomas from the endometrium as compared to the colon

scientific article published in June 2004

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

scientific article published on August 2008

Multicenter comparison of Molecular Tumor Boards in the Netherlands: definition, composition, methods and targeted therapy recommendations

scientific article published on 28 October 2020

Mutation analysis of KRAS prior to targeted therapy in colorectal cancer: development and evaluation of quality by a European external quality assessment scheme

scientific article

Mutation and association analyses of the candidate genes ESR1, ESR2, MAX, PCNA, and KAT2A in patients with unexplained MSH2-deficient tumors

article

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

scientific article published on 01 February 2019

Mutational analysis of cervical cytology improves diagnosis of endometrial cancer: A prospective multicentre cohort study

scientific article published on 22 November 2019

NRAS-mutated melanocytic BAP1-associated intradermal tumor (MBAIT): a case report.

scientific article published on 24 October 2014

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

scientific article published on 11 December 2008

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma

scientific article published on July 2010

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

Occurrence of ocular melanoma thirteen years after skin melanoma: two separate primaries or metastatic disease? A case solved with NRAS and CDKN2A (INK4A-ARF) mutational analysis

scientific article published on 01 March 2008

Opportunities for immunotherapy in microsatellite instable colorectal cancer

scientific article

PTEN Hamartoma Tumor Syndrome and Immune Dysregulation

Pancreatic acinar cell carcinoma is associated with BRCA2 germline mutations: a case report and literature review

scientific article published on 19 April 2019

Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer

scientific article published on 30 May 2016

RAS testing in metastatic colorectal cancer: advances in Europe

scientific article published on 16 November 2015

RAS testing in metastatic colorectal cancer: excellent reproducibility amongst 17 Dutch pathology centers

scientific article published in June 2015

Real-time analysis of tyrosine hydroxylase gene expression: a sensitive and semiquantitative marker for minimal residual disease detection of neuroblastoma.

scientific article

Recommendations for the clinical interpretation and reporting of copy number gains using gene panel NGS analysis in routine diagnostics

scientific article published on 19 March 2019

Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

scientific article published in March 2011

Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect

scientific article published on 23 December 2015

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

scientific article

Response to Tomao, Panici, and Tomao

scientific article published on 09 July 2019

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

scientific article

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

scientific article published on 8 December 2010

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.

scientific article published on 12 January 2018

Simultaneous detection of lung fusions using a multiplex RT-PCR next generation sequencing-based approach: a multi-institutional research study

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

Somatic non-epigenetic mismatch repair gene aberrations underly most mismatch repair-deficient Lynch-like tumors

scientific article published on 27 November 2020

Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.

scientific article published on 17 August 2014

The epigenetics of (hereditary) colorectal cancer

scientific article

The homogeneous mutation status of a 22 gene panel justifies the use of serial sections of colorectal cancer tissue for external quality assessment.

scientific article published on 6 June 2015

Three Rounds of External Quality Assessment in France to Evaluate the Performance of 28 Platforms for Multiparametric Molecular Testing in Metastatic Colorectal and Non-Small Cell Lung Cancer.

scientific article published on 02 January 2016

Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.

scientific article published in December 2003

Two types of primary mucinous ovarian tumors can be distinguished based on their origin

scientific article published on 06 November 2019

Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instability.

scientific article

Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition

scientific article published in February 2020

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

scientific article published on 6 September 2017

Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon?

scientific article published on 14 October 2019

[Genetic testing in patients with cancer; new developments]

scientific article published on 20 May 2019

Paulina is supported by:

About Paulina

Help