Rolf H. Sijmons

Overview

Best Publications

• Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease

  M. R. Nelen;W. C. G. Van Staveren;E. A. J. Peeters;Mohammed Ben Hassel

  589
  Citations

• Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

  Pål Møller;Toni T Seppälä;Inge Bernstein;Inge Bernstein;Elke Holinski-Feder

  547
  Citations

• Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

  Pal Moller;Toni Seppala;Inge Bernstein;Inge Bernstein;Elke Holinski-Feder

  541
  Citations

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

  Mev Dominguez-Valentin;Julian R. Sampson;Toni T. Seppälä;Sanne W. ten Broeke

  512
  Citations

• Familial endometrial cancer in female carriers of MSH6 germline mutations

  J Wijnen;W de Leeuw;H Vasen;H van der Klift

  499
  Citations

• Clinical findings with implications for genetic testing in families with clustering of colorectal cancer.

  JT Wijnen;Hfa Vasen;PM Khan;AH Zwinderman

  498
  Citations

• Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

  Bryony A Thompson;Bryony A Thompson;Amanda B Spurdle;John-Paul Plazzer;Marc S Greenblatt

  493
  Citations

• Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

  Ying Wu;Maran J.W. Berends;Rob G.J. Mensink;Claudia Kempinga

  382
  Citations

• Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics

  Birgit Sikkema-Raddatz;Lennart F. Johansson;Eddy N. de Boer;Rowida Almomani

  372
  Citations

• TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

  Marielle W. G. Ruijs;Senno Verhoef;Matti A. Rookus;Roelof Pruntel

  362
  Citations

• Molecular and Clinical Characteristics of MSH6 Variants: An Analysis of 25 Index Carriers of a Germline Variant

  Maran J.W. Berends;Ying Wu;Rolf H. Sijmons;Rob G.J. Mensink

  340
  Citations

• Risks of Less Common Cancers in Proven Mutation Carriers With Lynch Syndrome

  Christoph Engel;Markus Loeffler;Verena Steinke;Nils Rahner

  338
  Citations

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

  Marlies J E Kempers;Roland P Kuiper;Charlotte W Ockeloen;Pierre O Chappuis

  330
  Citations

• Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

  Thierry Frebourg;Svetlana Bajalica Lagercrantz;Carla Oliveira;Rita Magenheim

  247
  Citations

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

  Renee C. Niessen;Robert M. W. Hofstra;Helga Westers;Marjolijn J. L. Ligtenberg

  247
  Citations

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

  Carla Oliveira;Jantine L. Westra;Diego Arango;Miina Ollikainen

  241
  Citations

• Low-penetrance Genes and Their Involvement in Colorectal Cancer Susceptibility

  Mirjam M. de Jong;Ilja M. Nolte;Gerard J. te Meerman;Winette T. A. van der Graaf

  235
  Citations

• Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)

  M Nielsen;P F Franken;T H C M Reinards;M M Weiss

  226
  Citations

• Molecular evidence linking primary cancer of the fallopian tube to BRCA1 germline mutations.

  R. P. Zweemer;P. J. Van Diest;R. H. M. Verheijen;A. Ryan

  219
  Citations

• Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk

  Sanne W. ten Broeke;Richard M. Brohet;Carli M. Tops;Heleen M. van der Klift

  218
  Citations