M. Ligtenberg

发表

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

V. Pankratz, F. Couch, B. Ponder, 2010, Human molecular genetics.

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

Peter H. L. Krijger, J. Foekens, A. Das, 2014, Nature Biotechnology.

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

W. Chung, P. Hall, V. Pankratz, 2013, PLoS genetics.

Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH

J. Peterse, H. Horlings, L. Wessels, 2008, Breast Cancer Research and Treatment.

Guidance for laboratories performing molecular pathology for cancer patients

Etienne Rouleau, Manfred Dietel, Ed Schuuring, 2014, Journal of Clinical Pathology.

ESAG 6 and 7 products of Trypanosoma brucei form a transferrin binding protein complex.

M. Ligtenberg, Y. Stierhof, A. Beck‐Sickinger, 1994, European journal of cell biology.

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

I. Nagtegaal, M. Ligtenberg, B. Dutilh, 2019, European Journal of Human Genetics.

Predictive and prognostic markers for the outcome of chemotherapy in advanced colorectal cancer, a retrospective analysis of the phase III randomised CAIRO study.

I. Nagtegaal, C. Punt, M. Ligtenberg, 2009, European journal of cancer.

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

R. D. De Abreu, C. Hulsbergen-van de Kaa, M. Ligtenberg, 2003, Clinical cancer research : an official journal of the American Association for Cancer Research.

Cell-associated episialin is a complex containing two proteins derived from a common precursor.

M. Ligtenberg, M. van Meijer, S. Litvinov, 1992, The Journal of biological chemistry.

A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Christian Gilissen, Ilse Feenstra, Nienke Wieskamp, 2013, Human mutation.

Testing for inherited susceptibility to breast and ovarian cancer.

H. Brunner, M. Ligtenberg, 1999, European journal of obstetrics, gynecology, and reproductive biology.

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

B. V. van Oost, J. Mandel, M. Ligtenberg, 1995, American journal of human genetics.

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

Suet Yi Leung, Han G Brunner, Tsun Leung Chan, 2009, Nature Genetics.

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

I. Nagtegaal, M. Ligtenberg, M. Goossens, 2014, Gastroenterology.

EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients

R. Kuiper, M. Ligtenberg, N. Hoogerbrugge, 2012, Familial Cancer.

Young age and a positive family history of colorectal cancer are complementary selection criteria for the identification of Lynch syndrome.

I. Nagtegaal, M. Ligtenberg, P. Manders, 2011, European journal of cancer.

Lynch Syndrome-Associated Extracolonic Tumors Are Rare in Two Extended Families With the Same EPCAM Deletion

C. Boland, S. Thibodeau, L. Boardman, 2011, The American Journal of Gastroenterology.

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

Julie O. Culver, L. Kiemeney, M. Kloor, 2011, The Lancet. Oncology.

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

I. Tomlinson, L. Vreede, A. V. van Kessel, 2010, Gastroenterology.

Multicenter Comparison of Molecular Tumor Boards in The Netherlands: Definition, Composition, Methods, and Targeted Therapy Recommendations

H. Groen, E. Schuuring, W. Dinjens, 2020, The oncologist.

Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool.

R. Kuiper, M. Ligtenberg, E. Waanders, 2016, European journal of medical genetics.

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

B. Bonanni, T. Rebbeck, J. Benítez, 2011, British Journal of Cancer.

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

Mads Thomassen, Nina Ditsch, Vijai Joseph, 2012, Breast Cancer Research.

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

L. Vreede, R. Kuiper, C. V. van Ravenswaaij-Arts, 2013, Gastroenterology.

Effect of Pneumatic Tube System Transport on Cell-Free DNA.

M. Ligtenberg, E. Kamping, M. Geerlings, 2020, Clinical chemistry.

Numerous high-risk epithelial lesions in familial breast cancer.

L. Kiemeney, P. Bult, H. Brunner, 2006, European journal of cancer.

Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

E. Schröck, C. Lázaro, G. Capellá, 2018, Familial Cancer.

A Systematic Review and Meta-Analysis on the Predictive Value of Cell-Free DNA–Based Androgen Receptor Copy Number Gain in Patients With Castration-Resistant Prostate Cancer

J. Schalken, M. Ligtenberg, I. V. van Oort, 2020 .

External quality assessment for KRAS testing is needed: setup of a European program and report of the first joined regional quality assessment rounds.

P. Laurent-Puig, F. López-Ríos, E. Dequeker, 2011, The oncologist.

RAS testing in metastatic colorectal cancer: advances in Europe

N. Normanno, M. Ligtenberg, S. Patterson, 2015, Virchows Archiv.

Higher quality of molecular testing, an unfulfilled priority: Results from external quality assessment for KRAS mutation testing in colorectal cancer.

E. Dequeker, N. Normanno, M. Ligtenberg, 2014, The Journal of molecular diagnostics : JMD.

Mismatch repair deficiency in early‐onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect

I. Nagtegaal, M. Ligtenberg, L. Brosens, 2021, The journal of pathology. Clinical research.

[18F]Fluoro-2-deoxy-d-glucose Positron Emission Tomography Detects Gastric Carcinoma in an Early Stage in an Asymptomatic E-Cadherin Mutation Carrier

W. Oyen, M. Ligtenberg, J. Drenth, 2004, Clinical Cancer Research.

Prediction of -association in hereditary non- breast carcinomas with array-CGH

H. Horlings, S. Verhoef, M. Ligtenberg, 2020 .

Optimizing the detection of hereditary non-polyposis colorectal cancer: An update

E. Adang, M. Ligtenberg, F. Nagengast, 2006, Scandinavian journal of gastroenterology. Supplement.

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2

E. Mariman, L. J. Veer, H. Brunner, 1999, British Journal of Cancer.

A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.

G. Pals, P. Devilee, A. V. D. van den Ouweland, 1997, American journal of human genetics.

BMC Cancer

Leila Mohammadi, Peter Devilee, H. V. van Houwelingen, 2001 .

KRAS mutation testing for predicting response to anti-EGFR therapy for colorectal carcinoma: proposal for an European quality assurance program

P. Jares, C. Langner, P. Quirke, 2008, Virchows Archiv.

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

A. Eijkelenboom, M. Ligtenberg, T. Rinne, 2019, Scientific Reports.

Episialin (MUC1) inhibits cytotoxic lymphocyte-target cell interaction.

C. Melief, C. Figdor, M. Ligtenberg, 1993, Journal of immunology.

Myotonic dystrophy and recurrent pleomorphic adenomas: Case report and association hypothesis

M. Ligtenberg, F. Hoogen, C. Herpen, 2020, Neuromuscular Disorders.

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

E. Dequeker, M. Ligtenberg, S. V. Borght, 2011, Virchows Archiv.

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

E. Schuuring, C. Keppens, E. Dequeker, 2019, Human Mutation.

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

H. Brunner, M. Ligtenberg, J. Prins, 2015, Journal of Genetic Counseling.

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

L. Vissers, A. Hoischen, J. Lupski, 2017, European Journal of Human Genetics.

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

H. Brunner, M. Ligtenberg, M. Goossens, 2009, European Journal of Human Genetics.

Most Patients with Colorectal Tumors at Young Age Do Not Visit a Cancer Genetics Clinic

T. Ruers, M. Ligtenberg, F. Nagengast, 2008, Diseases of the colon and rectum.

Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer

H. Hollema, A. V. D. Van Der Zee, E. D. de Vries, 2006, Gut.

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

I. Nagtegaal, M. Ligtenberg, N. Hoogerbrugge, 2020, International journal of cancer.

Deficient mismatch repair system in patients with sporadic advanced colorectal cancer

M. Ligtenberg, M. Koopman, L. Mekenkamp, 2009, British Journal of Cancer.

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

W. Foulkes, G. Capellá, I. Tomlinson, 2019, Cancer cell.

Complexity of MAM-6, an epithelial sialomucin associated with carcinomas.

M. Ligtenberg, J. Hilkens, F. Buijs, 1989, Cancer research.

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

H. Brunner, M. Ligtenberg, J. Prins, 2013, Familial Cancer.

Episialin, a carcinoma-associated mucin, is generated by a polymorphic gene encoding splice variants with alternative amino termini.

M. Ligtenberg, H. L. Vos, J. Hilkens, 1990, The Journal of biological chemistry.

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers

V. Pankratz, F. Couch, B. Bonanni, 2012, Breast Cancer Research.

Renal cell cancer: chromosome 3 translocations as risk factors.

A. V. van Kessel, M. Ligtenberg, A. Smits, 1999, Journal of the National Cancer Institute.

Investigations for a multi-marker RT-PCR to improve sensitivity of disseminated tumor cell detection.

T. Wobbes, T. Ruers, C. Punt, 2003, Anticancer research.

Structure, Processing, Differential Glycosylation and Biology of Episialin

M. Ligtenberg, H. L. Vos, S. Litvinov, 1991 .

A single nucleotide polymorphism in an exon dictates allele dependent differential splicing of episialin mRNA.

M. Ligtenberg, H. L. Vos, J. Hilkens, 1991, Nucleic acids research.

HNF4A immunohistochemistry facilitates distinction between primary and metastatic breast and gastric carcinoma

P. Bult, M. Ligtenberg, N. Hoogerbrugge, 2014, Virchows Archiv.

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

M. Ligtenberg, R. Seruca, F. Nagengast, 2004, Oncogene.

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

Peter Devilee, Ronald van Eijk, Tamara Peelen, 1997, Nature Genetics.

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

W. Quint, W. Melchers, M. Ligtenberg, 2009, International journal of cancer.

Current clinical selection strategies for identification of hereditary non‐polyposis colorectal cancer families are inadequate: a meta‐analysis

E. Adang, M. Ligtenberg, F. Nagengast, 2004, Clinical genetics.

Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.

M. Ligtenberg, G. Matthijs, C. Mattocks, 2010, Clinical chemistry.

Micro-costing diagnostics in oncology: from single-gene testing to whole- genome sequencing

E. Cuppen, B. Tops, E. de Bruijn, 2021, Expert review of pharmacoeconomics & outcomes research.

Micro-costing diagnostics in oncology: from single-gene testing to whole- genome sequencing

E. Cuppen, B. Tops, E. Schuuring, 2019, Expert review of pharmacoeconomics & outcomes research.

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

R. Pfundt, J. Hehir-Kwa, E. Bongers, 2012, American journal of human genetics.

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

A. Hoischen, I. Nagtegaal, C. Gilissen, 2015, Scientific Reports.

Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers

L. Kiemeney, J. Witjes, M. Ligtenberg, 2010, Journal of Medical Genetics.

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

E. Dequeker, N. Normanno, M. Ligtenberg, 2015, The oncologist.

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

I. V. van Rooij, M. Ligtenberg, R. Seruca, 2013, Human molecular genetics.

Interpretation of Immunohistochemistry for Mismatch Repair Proteins is Only Reliable in a Specialized Setting

M. Ligtenberg, N. Hoogerbrugge, R. Hermens, 2008, The American journal of surgical pathology.

Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats

A. Wagner, W. Dinjens, R. Hofstra, 2010, British Journal of Cancer.

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

M. Bracko, M. Ligtenberg, R. Golouh, 2004, Cancer detection and prevention.

Germline copy number variation and cancer risk.

R. Kuiper, M. Ligtenberg, N. Hoogerbrugge, 2010, Current opinion in genetics & development.

Limitations of cytokeratin 20 RT-PCR to detect disseminated tumour cells in blood and bone marrow of patients with colorectal cancer: expression in controls and downregulation in tumour tissue

T. Wobbes, T. Ruers, C. Punt, 2002, Molecular pathology : MP.

Real-Time Analysis of Tyrosine Hydroxylase Gene Expression : A Sensitive and Semiquantitative Marker for Minimal Residual Disease Detection of Neuroblastoma 1

M. Ligtenberg, L. Heuvel, C. H. Kaa, 2003 .

Massive gastric polyposis associated with a germline SMAD4 gene mutation

M. Ligtenberg, H. Vasen, H. Vasen, 2015, Familial Cancer.

Title Interplay between BRCA 1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

Loris, Fiona, Meindl, 2012 .

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

B. Tops, A. Eijkelenboom, L. S. Schultze Kool, 2019, Genes, chromosomes & cancer.

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

I. Nagtegaal, C. Punt, M. Ligtenberg, 2009, Journal of cellular and molecular medicine.

Control of antigenic variation in African trypanosomes.

P. Borst, F. van Leeuwen, M. Ligtenberg, 1993, Cold Spring Harbor symposia on quantitative biology.

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

B. Tops, E. Schuuring, P. Nederlof, 2019, Virchows Archiv.

The viral thymidine kinase gene as a tool for the study of mutagenesis in Trypanosoma brucei.

P. Borst, M. Ligtenberg, G. Rudenko, 1996, Nucleic acids research.

Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma

P. Bult, M. Ligtenberg, N. Hoogerbrugge, 2014, Hereditary cancer in clinical practice.

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

M. Nöthen, M. Kloor, T. Becker, 2012, Familial Cancer.

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

D. Ruiter, M. Ligtenberg, W. Mooi, 2002, The Journal of pathology.

Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability

H. Brunner, M. Ligtenberg, M. Goossens, 2006, British Journal of Cancer.

Two intronic mutations in the adrenoleukodystrophy gene

B. V. van Oost, M. Ligtenberg, P. Barth, 1995, Human mutation.

Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1

F. Gabreëls, K. Cerosaletti, M. Ligtenberg, 2001, Journal of medical genetics.

Cell membrane-associated mucins and their adhesion-modulating property.

M. Ligtenberg, H. L. Vos, S. Litvinov, 1992, Trends in biochemical sciences.

Analysis of mutations in genes of the follicle-stimulating hormone receptor signaling pathway in ovarian granulosa cell tumors.

H. Brunner, M. Ligtenberg, A. Themmen, 1999, The Journal of clinical endocrinology and metabolism.

RAS testing in metastatic colorectal cancer: advances in Europe

N. Normanno, M. Ligtenberg, S. Patterson, 2018 .

Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL

Etienne Rouleau, Michael Hummel, Antonio Marchetti, 2016, Virchows Archiv.

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

P. D. de Wilde, D. Ruiter, M. Ligtenberg, 2005, The American journal of surgical pathology.

Screening male intracytoplasmic sperm injection candidates for mutations of the follicle stimulating hormone receptor gene.

H. Brunner, L. Hoefsloot, M. Ligtenberg, 1998, Human reproduction.

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

A. Hoischen, M. Nelen, B. Tops, 2016, Human mutation.

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.

B. Tops, P. Laurent-Puig, I. Soubeyran, 2016, The Journal of molecular diagnostics : JMD.

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

A. Marchetti, G. Botti, E. Schuuring, 2012, Virchows Archiv.

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

P. Pauwels, M. Ligtenberg, G. Offerhaus, 2007, Human pathology.

Suppression of cellular aggregation by high levels of episialin.

M. Ligtenberg, H. L. Vos, J. Hilkens, 1992, Cancer research.

Advances and challenges in precision medicine in salivary gland cancer.

M. Ligtenberg, C. V. van Herpen, W. van Boxtel, 2019, Cancer treatment reviews.

Bmc Cancer

Leila Mohammadi, Peter Devilee, Hans C van Houwelingen, 2022 .

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

P. Devilee, M. Blok, S. Verhoef, 2009, Breast Cancer Research.

Homologous Recombination Repair Deficiency and Implications for Tumor Immunogenicity

M. Ligtenberg, R. Koornstra, N. Mehra, 2021, Cancers.

A multiplex PCR predictor for aCGH success of FFPE samples

P. Nederlof, S. Verhoef, M. Ligtenberg, 2005, British Journal of Cancer.

Opportunities for immunotherapy in microsatellite instable colorectal cancer

C. Figdor, M. Ligtenberg, N. Hoogerbrugge, 2016, Cancer Immunology, Immunotherapy.

Medullary Pancreatic Carcinoma Due to Somatic POLE Mutation

L. Wood, R. Hruban, I. Nagtegaal, 2020, Pancreas.

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

A. Stenzinger, M. Ligtenberg, F. Haller, 2020, The Journal of molecular diagnostics : JMD.

NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?

R. Kuiper, M. Ligtenberg, N. Hoogerbrugge, 2018, The Journal of pathology.

The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery

A. V. van Kessel, R. Kuiper, M. Ligtenberg, 2016, Cellular Oncology.

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status.

L. Aaltonen, D. Arango, P. Laiho, 2004, Human molecular genetics.

University of Groningen A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history Garcia,

P. Devilee, A. Ouweland, M. Blok, 2015 .

UvA-DARE ( Digital Academic Repository ) A method to assess the clinical significance of unclassified variants in the BRCA 1 and BRCA 2 genes based on cancer family history

P. Devilee, A. Ouweland, M. Blok, 2009 .

University of Groningen Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk Couch,

F. Couch, B. Bonanni, O. Olopade, 2013 .

Impact of DNA damage repair defects on response to PSMA radioligand therapy in metastatic castration-resistant prostate cancer

J. Witjes, M. Ligtenberg, C. Kratochwil, 2021, Prostate cancer and prostatic diseases.

BRCA Testing by Single-Molecule Molecular Inversion Probes.

J. Shendure, A. Hoischen, J. Hehir-Kwa, 2017, Clinical chemistry.

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

Trees Jansen, L. Jacobs, M. Netea, 2015, Familial Cancer.

Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.

R. Kuiper, M. Ligtenberg, P. Jin, 2015, World journal of gastroenterology.

Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair

S. Verhoef, A. V. D. van den Ouweland, A. Wagner, 2014, Journal of Medical Genetics.

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

Dieter Niederacher, Ute Hamann, Alfons Meindl, 2008, American journal of human genetics.

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

J. Shendure, A. Hoischen, J. Hehir-Kwa, 2015, Nature Genetics.

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

Miika Ahdesmäki, Justin Johnson, Patrick Pauwels, 2017, Human mutation.

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

P. Schirmacher, C. V. van Asperen, E. Friedman, 2017, Seminars in oncology.

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation

L. Kiemeney, A. V. van Kessel, R. Kuiper, 2011, European Journal of Human Genetics.

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

Roy R. L. Bastien, H. Feilotter, B. Tops, 2018, BMC Cancer.

Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations

R. Eeles, J. Wesseling, J. Oosterwijk, 2005, Journal of Medical Genetics.

PTEN Hamartoma Tumor Syndrome and Immune Dysregulation123

M. Netea, M. Ligtenberg, R. Netea-Maier, 2018, Translational oncology.

PTEN Hamartoma Tumor Syndrome and Immune Dysregulation123

M. Netea, M. Ligtenberg, R. Netea-Maier, 2018, Translational oncology.

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

H. Brunner, M. Ligtenberg, J. Prins, 2013, Familial Cancer.

The epigenetics of (hereditary) colorectal cancer.

R. Kuiper, M. Ligtenberg, N. Hoogerbrugge, 2010, Cancer genetics and cytogenetics.

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting

H. Meijers-Heijboer, S. Verhoef, R. Hofstra, 2006, Human mutation.

Isolation of a bovine full length cytochrome P450 (CYP3A) cDNA sequence and its functional expression in V79 cells.

E. M. de Groene, R. Witkamp, M. Ligtenberg, 1997, Environmental toxicology and pharmacology.

CDKN2A (INK4A-ARF) Mutation Analysis to Distinguish Cutaneous Melanoma Metastasis From a Second Primary Melanoma

M. Ligtenberg, W. Blokx, K. Punt, 2007, The American journal of surgical pathology.

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

E. Schuuring, W. Dinjens, E. Speel, 2020, Frontiers in Oncology.

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

M. Ligtenberg, F. Thunnissen, P. Nooijen, 2012, Cellular Oncology.

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

J. Schalken, M. Ligtenberg, H. Bloemendal, 2020, International journal of cancer.

Recurrence and variability of germline EPCAM deletions in Lynch syndrome

Julie O. Culver, M. Kloor, P. Hutter, 2011, Human mutation.

Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation

M. Ligtenberg, F. Waldhauser, A. F. V. Lieburg, 1995, Human Genetics.

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

H. Hollema, I. Nagtegaal, B. Ylstra, 2019, Modern Pathology.

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

I. Nagtegaal, M. Ligtenberg, G. Offerhaus, 2019, Cancer biology & therapy.

More Differences Between HNPCC-related and Sporadic Carcinomas From the Endometrium as Compared to the Colon

K. Aben, M. Ligtenberg, F. van der Leij, 2004, The American journal of surgical pathology.

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

M. C. Vos, A. Eijkelenboom, M. Ligtenberg, 2020, International journal of cancer.

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

I. Nagtegaal, A. Eijkelenboom, M. Ligtenberg, 2020, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

D. de Jong, R. van Hillegersberg, E. Dekker, 2012, International journal of cancer.

High prevalence of premalignant lesions in prophylactically removed breasts from women at hereditary risk for breast cancer.

L. Kiemeney, P. Bult, H. Brunner, 2003, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

A. Wagner, R. Kuiper, M. Ligtenberg, 2018, Clinical Cancer Research.

The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype

U. Ladabaum, R. Ward, M. Ligtenberg, 2013, European Journal of Human Genetics.

Molecular analysis of a familial case of renal cell cancer and a t(3;6)(q12;q15)

M. Ligtenberg, A. Smits, D. Smeets, 2001, Genes, chromosomes & cancer.

Predisposition to colorectal cancer: exploiting copy number variation to identify novel predisposing genes and mechanisms

M. Ligtenberg, N. Hoogerbrugge, R. Kuiper, 2009, Cytogenetic and Genome Research.

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma

A. V. van Kessel, R. Kuiper, M. Ligtenberg, 2010, Genes, chromosomes & cancer.

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

A. Hoischen, M. Nelen, B. Tops, 2016, The Journal of molecular diagnostics : JMD.

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

Mads Thomassen, Nina Ditsch, Dieter Niederacher, 2009, Human molecular genetics.

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

E. Schuuring, P. Nederlof, E. Thunnissen, 2011, Journal of Clinical Pathology.

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

M. Ligtenberg, M. Looijen-Salamon, O. Schuurbiers, 2010, Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer.

Evolution of RAS testing over time: factors influencing mutation rates in metastatic colorectal cancer patients

C. Keppens, E. Dequeker, M. Ligtenberg, 2020 .

KRAS mutation testing for predicting response to anti-EGFR therapy for colorectal carcinoma: proposal for an European quality assurance program

P. Jares, C. Langner, P. Quirke, 2008, Virchows Archiv.

Reply to Kratz et al.

E. Schröck, D. Evans, C. Lázaro, 2020, European Journal of Human Genetics.

A non-BRCA1/2 hereditary breast cancer sub-group defined by aCGH profiling of genetically related patients

P. Devilee, L. Wessels, S. Verhoef, 2011, Breast Cancer Research and Treatment.

Plasma BRAF Mutation Detection for the Diagnostic and Monitoring Trajectory of Patients with LDH-High Stage IV Melanoma

J. Schalken, M. Ligtenberg, J. D. de Groot, 2021, Cancers.

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

W. Chung, P. Hall, V. Pankratz, 2013, PLoS Genetics.

Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2015, PloS one.

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

R. van Hillegersberg, C. Caldas, D. Huntsman, 2015, Journal of Medical Genetics.

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

J. Bussink, M. Ligtenberg, M. Looijen-Salamon, 2012, Thoracic cancer.

Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer

H. Morreau, T. van Wezel, M. Ligtenberg, 2014, European Journal of Human Genetics.

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

L. Vreede, C. Gilissen, R. Kuiper, 2016, PLoS genetics.

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

P. Devilee, C. Asperen, S. Verhoef, 2016, Human mutation.

EMAST Is Associated with a Poor Prognosis in Microsatellite Instable Metastatic Colorectal Cancer

I. Nagtegaal, C. Punt, M. Ligtenberg, 2015, PloS one.

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

M. Ligtenberg, N. Hoogerbrugge, R. D. de Voer, 2020, International journal of molecular sciences.

Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer

Marc Vidal, Dieter Niederacher, Roderic Guigó, 2011, PLoS biology.

The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region.

G. Pals, B. V. van Oost, M. Ligtenberg, 1995, American Journal of Human Genetics.

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

M. Ligtenberg, A. Smits, D. Smeets, 2002, Cancer genetics and cytogenetics.

An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation.

E. van den Berg, M. Ligtenberg, D. Smeets, 1998, American journal of human genetics.

Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

S. Seal, N. Rahman, D. Noh, 2012, PloS one.

Breast Cancer Risk and 6 q 22 . 33 : Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA 1 / 2

S. Seal, N. Rahman, D. Noh, 2012 .

EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients

R. Kuiper, M. Ligtenberg, N. Hoogerbrugge, 2013, Familial Cancer.

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.

Katherine M. Tucker, Aung Ko Win, Swati G. Patel, 2021, The Lancet. Oncology.

Familial gastric cancer: detection of a hereditary cause helps to understand its etiology

M. Ligtenberg, N. Hoogerbrugge, R. S. van der Post, 2012, Hereditary cancer in clinical practice.

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

M. Ligtenberg, R. Seruca, N. Hoogerbrugge, 2013, European Journal of Human Genetics.

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

I. Nagtegaal, B. Ylstra, M. Ligtenberg, 2019, Histopathology.

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

H. Hollema, A. V. D. Van Der Zee, E. D. de Vries, 2003, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Familial gastric cancer: detection of a hereditary cause helps to understand its etiology

M. Ligtenberg, N. Hoogerbrugge, R. S. van der Post, 2012, Hereditary Cancer in Clinical Practice.

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

D. Jong, R. van Hillegersberg, M. Ligtenberg, 2012, Familial Cancer.

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

M. C. Vos, A. Eijkelenboom, M. Ligtenberg, 2020, International journal of cancer.

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

A. Jakubowska, J. Lubiński, A. Wagner, 2018, Journal of Medical Genetics.

The impact of a false-positive MRI on the choice for mastectomy in BRCA mutation carriers is limited.

P. Bult, E. Bongers, H. Brunner, 2008, Annals of oncology : official journal of the European Society for Medical Oncology.

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

H. Hollema, R. Hofstra, M. Ligtenberg, 2009, Genes, chromosomes & cancer.

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

B. Tops, E. Dequeker, M. Ligtenberg, 2015, Oncotarget.

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

M. Ligtenberg, W. V. van Zelst-Stams, A. Mensenkamp, 2014, Virchows Archiv.

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

B. Tops, E. Schuuring, P. Nederlof, 2020, BMC Cancer.

Unraveling Neuroendocrine Gallbladder Cancer: Comprehensive Clinicopathologic and Molecular Characterization

I. Nagtegaal, M. Ligtenberg, L. Kroeze, 2021, JCO precision oncology.

Comprehensive Assessment of Incidence, Risk Factors, and Mechanisms of Impaired Medical and Psychosocial Health Outcomes among Adolescents and Young Adults with Cancer: Protocol of the Prospective Observational COMPRAYA Cohort Study

M. J. van den Bent, M. Ligtenberg, J. Gietema, 2021, Cancers.

q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers

V. Pankratz, F. Couch, B. Bonanni, 2012 .

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

I. Nagtegaal, M. Ligtenberg, W. V. van Zelst-Stams, 2020, Gastroenterology.

Fourfold increased detection of Lynch syndrome by raising age limit for tumour genetic testing from 50 to 70 years is cost-effective.

E. Adang, M. Ligtenberg, A. S. Sie, 2014, Annals of oncology : official journal of the European Society for Medical Oncology.

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

K. Czene, P. Hall, V. Pankratz, 2009, Breast Cancer Research and Treatment.

[Tumour examination to detect hereditary colorectal cancer].

M. Ligtenberg, F. Nagengast, N. Hoogerbrugge, 2012, Nederlands tijdschrift voor geneeskunde.

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

L. Kiemeney, H. Clevers, I. Nagtegaal, 2015, The Journal of pathology.

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.

B. V. van Oost, J. Mandel, M. Ligtenberg, 1994, Biochemical and biophysical research communications.

Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer

H. Brunner, M. Ligtenberg, M. Goossens, 2007, British Journal of Cancer.

DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct

H. Brunner, M. Ligtenberg, J. Prins, 2012, BMC Women's Health.

Electronic reminders for pathologists promote recognition of patients at risk for Lynch syndrome: cluster-randomised controlled trial

E. Adang, M. Ligtenberg, F. Nagengast, 2010, Virchows Archiv.

Cost effectiveness of a new strategy to identify HNPCC patients

T. Ruers, E. Adang, M. Ligtenberg, 2004, Gut.

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

A. Hoischen, J. Hehir-Kwa, M. Nelen, 2017, Oncotarget.

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

H. Brunner, M. Ligtenberg, N. Hoogerbrugge, 2006, Modern Pathology.

Molecular Pathology in Contemporary Diagnostic Pathology Laboratory

M. Ligtenberg, J. V. van Krieken, P. Groenen, 2010, American Journal of Surgical Pathology.

Nationwide evaluation of mutation-tailored treatment of gastrointestinal stromal tumors in daily clinical practice

M. Ligtenberg, H. Gelderblom, S. Willems, 2021, Gastric Cancer.

Optimal selection for BRCA1 and BRCA2 mutation testing using a combination of ‘easy to apply’ probability models

J. Oosterwijk, M. Ligtenberg, N. Hoogerbrugge, 2006, British Journal of Cancer.

Only about 25% of familial breast cancer is explained by mutations in brca1 and brca2, fewer by moderate penetrance genes like p53, pten, chek2, atm and palb2 and an unknown fraction by common variants of genes with low penetrance

P. Devilee, H. Meijers-Heijboer, L. Wessels, 2008 .

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

Carla Oliveira, Raquel Seruca, Annika Lindblom, 2009, Human molecular genetics.

RAS testing for colorectal cancer patients is reliable in European laboratories that pass external quality assessment

E. Dequeker, M. Ligtenberg, A. Siebers, 2018, Virchows Archiv.

Abstract 36: The OncoNetwork Consortium: A European Collaborative Research study on the development of an Ion AmpliSeq gene panel targeting hot spots in colon and lung cancers.

B. Tops, A. Scarpa, I. Cree, 2013 .

Using a semi‐conductor sequencing‐based panel for genotyping of HPV‐positive and HPV‐negative oropharyngeal cancer: a retrospective pilot study

B. Tops, M. Ligtenberg, C. V. van Herpen, 2017, Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery.

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

H. Höfler, D. Glavač, M. Ligtenberg, 2010, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist’s initiative

H. Brunner, M. Ligtenberg, F. Nagengast, 2012, Familial Cancer.

Multifocal colorectal cancer - Do intraluminal metastases occur?

I. Nagtegaal, B. Ylstra, M. Ligtenberg, 2020, Gastroenterology.

Mutual exclusion of t(11;18)(q21;q21) and numerical chromosomal aberrations in the development of different types of primary gastric lymphomas

A. Chott, M. Ligtenberg, M. Hoeve, 2003, British journal of haematology.

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

M. Ligtenberg, N. Hoogerbrugge, C. Kets, 2008, Virchows Archiv.

197PUnderstanding BRCA1 and BRCA2 mutated breast cancer cases in Romania: First report on founder mutations in Romanians

M. Ligtenberg, A. Eniu, L. Pop, 2017 .