Sabine Aretz

Affiliations
  • Betriebsärztlicher Dienst, Kliniken Maria Hilf GmbH Mönchengladbach, Akademisches Lehrkrankenhaus, RWTH Aachen, Mönchengladbach, Deutschland.

Publications (55)

Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study.

BMC cancer
Avec: Karolin Bucksch , Silke Zachariae , Stefan Aretz , Reinhard Büttner , Elke Holinski-Feder , Stefanie Holzapfel , Robert Hüneburg , Matthias Kloor , Magnus von Knebel Doeberitz , Monika Morak , Gabriela Möslein , Jacob Nattermann , Claudia Perne , Nils Rahner , Wolff Schmiegel , Karsten Schulmann , Verena Steinke-Lange , Christian P Strassburg , Deepak B Vangala , Jürgen Weitz , Markus Loeffler , Christoph Engel , Auteur inconnu

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Hereditary cancer in clinical practice
Avec: Jonas Henn , Isabel Spier , Ronja S Adam , Stefanie Holzapfel , Siegfried Uhlhaas , Katrin Kayser , Guido Plotz , Sophia Peters , Stefan Aretz

Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

PloS one
Avec: Claudia Perne , Sophia Peters , Maria Cartolano , Sukanya Horpaopan , Christina Grimm , Janine Altmüller , Anna K Sommer , Axel M Hillmer , Holger Thiele , Margarete Odenthal , Gabriela Möslein , Ronja Adam , Sugirthan Sivalingam , Jutta Kirfel , Michal R Schweiger , Martin Peifer , Isabel Spier , Stefan Aretz

Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndrome.

International journal of cancer
Avec: Swetlana Ladigan-Badura , Deepak B Vangala , Christoph Engel , Karolin Bucksch , Robert Hueneburg , Claudia Perne , Jacob Nattermann , Verena Steinke-Lange , Nils Rahner , Hans K Schackert , Jürgen Weitz , Matthias Kloor , Judith Kuhlkamp , Huu Phuc Nguyen , Gabriela Moeslein , Christian Strassburg , Monika Morak , Elke Holinski-Feder , Reinhard Buettner , Stefan Aretz , Markus Loeffler , Wolff Schmiegel , Christian Pox , Karsten Schulmann , Auteur inconnu

Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin.

Acta neuropathologica
Avec: Alisa Förster , Frank Brand , Rouzbeh Banan , Robert Hüneburg , Christine A M Weber , Wiebke Ewert , Jessica Kronenberg , Christopher Previti , Natalie Elyan , Ulrike Beyer , Helge Martens , Bujung Hong , Jan H Bräsen , Andreas Erbersdobler , Joachim K Krauss , Martin Stangel , Amir Samii , Stephan Wolf , Matthias Preller , Stefan Aretz , Bettina Wiese , Christian Hartmann , Ruthild G Weber

Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.

Journal of the National Cancer Institute
Avec: Linda A J Hendricks , Nicoline Hoogerbrugge , Arjen R Mensenkamp , Joan Brunet , Roser Lleuger-Pujol , Hildegunn Høberg-Vetti , Marianne Tveit Haavind , Giovanni Innella , Daniela Turchetti , Stefan Aretz , Isabel Spier , Marc Tischkowitz , Arne Jahn , Thera P Links , Maran J W Olderode-Berends , Ana Blatnik , Edward M Leter , D Gareth Evans , Emma R Woodward , Verena Steinke-Lange , Violetta C Anastasiadou , Chrystelle Colas , Marie-Charlotte Villy , Patrick R Benusiglio , Anna Gerasimenko , Valeria Barili , Maud Branchaud , Claude Houdayer , Bianca Tesi , M Omer Yazicioglu , Rachel S van der Post , Janneke H M Schuurs-Hoeijmakers , Auteur inconnu , Janet R Vos

Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.

The British journal of surgery
Avec: Gloria Zaffaroni , Alessandro Mannucci , Laura Koskenvuo , Borja de Lacy , Anna Maffioli , Tanya Bisseling , Elizabeth Half , Giulia Martina Cavestro , Laura Valle , Neil Ryan , Stefan Aretz , Karen Brown , Francesco Buttitta , Fatima Carneiro , Oonagh Claber , Ruth Blanco-Colino , Maxime Collard , Emma Crosbie , Miguel Cunha , Triantafyllos Doulias , Christina Fleming , Henriette Heinrich , Robert Hüneburg , Julie Metras , Iris Nagtegaal , Ionut Negoi , Maartje Nielsen , Gianluca Pellino , Luigi Ricciardiello , Abdurrahman Sagir , Luis Sánchez-Guillén , Toni T Seppälä , Peter Siersema , Benedikt Striebeck , Julian R Sampson , Andrew Latchford , Yann Parc , John Burn , Gabriela Möslein

Systematic large-scale application of ClinGen InSiGHT

medRxiv : the preprint server for health sciences
Avec: Xiaoyu Yin , Marcy Richardson , Andreas Laner , Xuemei Shi , Elisabet Ognedal , Valeria Vasta , Thomas V O Hansen , Marta Pineda , Deborah Ritter , Johan T den Dunnen , Emadeldin Hassanin , Wencong Lyman Lin , Ester Borras , Karl Krahn , Margareta Nordling , Alexandra Martins , Khalid Mahmood , Emily A W Nadeau , Victoria Beshay , Carli Tops , Maurizio Genuardi , Tina Pesaran , Ian M Frayling , Gabriel Capellá , Andrew Latchford , Sean V Tavtigian , Carlo Maj , Sharon E Plon , Marc S Greenblatt , Finlay A Macrae , Isabel Spier , Stefan Aretz

[S3 guidelines on the diagnosis and treatment of carcinoma of the endometrium : Requirements for pathology].

Der Pathologe
Avec: L-C Horn , G Emons , S Aretz , N Bock , M Follmann , S Lax , M Nothacker , E Steiner , D Mayr , Auteur inconnu , Auteur inconnu

The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
Avec: Sanne W Ten Broeke , Mar Rodríguez-Girondo , Manon Suerink , Stefan Aretz , Inge Bernstein , Gabriel Capellá , Christoph Engel , Encarna B Gomez-Garcia , Liselot P van Hest , Magnus von Knebel Doeberitz , Kristina Lagerstedt-Robinson , Tom G W Letteboer , Pal Moller , Theo A van Os , Marta Pineda , Nils Rahner , Maran J W Olderode-Berends , Jenny von Salomé , Hans K Schackert , Liesbeth Spruijt , Verena Steinke-Lange , Anja Wagner , Carli M J Tops , Maartje Nielsen

mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion.

Human molecular genetics
Avec: Henry Taylor , Dilay Yerlioglu , Claudia Phen , Antje Ballauff , Natalia Nedelkopoulou , Isabel Spier , Inés Loverdos , Veronica B Busoni , Jürgen Heise , Peter Dale , Tim de Meij , Kevin Sweet , Marta C Cohen , Victor L Fox , Emmanuel Mas , Stefan Aretz , Charis Eng , Stephan Buderus , Mike Thomson , Isabel Rojas , Holm H Uhlig

No evidence to support the impact of migration background on treatment response rates and cancer survival: a retrospective matched-pair analysis in Germany.

BMC cancer
Avec: Roman Rüdiger , Franziska Geiser , Manuel Ritter , Peter Brossart , Mignon-Denise Keyver-Paik , Andree Faridi , Hartmut Vatter , Friedrich Bootz , Jennifer Landsberg , Jörg C Kalff , Ulrich Herrlinger , Glen Kristiansen , Torsten Pietsch , Stefan Aretz , Daniel Thomas , Lukas Radbruch , Franz-Josef Kramer , Christian P Strassburg , Maria Gonzalez-Carmona , Dirk Skowasch , Markus Essler , Matthias Schmid , Jennifer Nadal , Nicole Ernstmann , Amit Sharma , Benjamin Funke , Ingo G H Schmidt-Wolf

Adenoma and colorectal cancer risks in Lynch syndrome, Lynch-like syndrome and familial colorectal cancer type X.

International journal of cancer
Avec: Karolin Bucksch , Silke Zachariae , Aysel Ahadova , Stefan Aretz , Reinhard Büttner , Heike Görgens , Elke Holinski-Feder , Robert Hüneburg , Matthias Kloor , Magnus von Knebel Doeberitz , Swetlana Ladigan-Badura , Gabriela Moeslein , Monika Morak , Jacob Nattermann , Huu Phuc Nguyen , Claudia Perne , Silke Redler , Ariane Schmetz , Verena Steinke-Lange , Harald Surowy , Deepak B Vangala , Jürgen Weitz , Markus Loeffler , Christoph Engel , Auteur inconnu

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

Nature genetics
Avec: Margot A Cousin , Blake A Creighton , Keith A Breau , Rebecca C Spillmann , Erin Torti , Sruthi Dontu , Swarnendu Tripathi , Deepa Ajit , Reginald J Edwards , Simone Afriyie , Julia C Bay , Kathryn M Harper , Alvaro A Beltran , Lorena J Munoz , Liset Falcon Rodriguez , Michael C Stankewich , Richard E Person , Yue Si , Elizabeth A Normand , Amy Blevins , Alison S May , Louise Bier , Vimla Aggarwal , Grazia M S Mancini , Marjon A van Slegtenhorst , Kirsten Cremer , Jessica Becker , Hartmut Engels , Stefan Aretz , Jennifer J MacKenzie , Eva Brilstra , Koen L I van Gassen , Richard H van Jaarsveld , Renske Oegema , Gretchen M Parsons , Paul Mark , Ingo Helbig , Sarah E McKeown , Robert Stratton , Benjamin Cogne , Bertrand Isidor , Pilar Cacheiro , Damian Smedley , Helen V Firth , Tatjana Bierhals , Katja Kloth , Deike Weiss , Cecilia Fairley , Joseph T Shieh , Amy Kritzer , Parul Jayakar , Evangeline Kurtz-Nelson , Raphael A Bernier , Tianyun Wang , Evan E Eichler , Ingrid M B H van de Laar , Allyn McConkie-Rosell , Marie T McDonald , Jennifer Kemppainen , Brendan C Lanpher , Laura E Schultz-Rogers , Lauren B Gunderson , Pavel N Pichurin , Grace Yoon , Michael Zech , Robert Jech , Juliane Winkelmann , Auteur inconnu , Auteur inconnu , Adriana S Beltran , Michael T Zimmermann , Brenda Temple , Sheryl S Moy , Eric W Klee , Queenie K-G Tan , Damaris N Lorenzo

Early detection of duodenal cancer by upper gastrointestinal-endoscopy in Lynch syndrome.

International journal of cancer
Avec: Deepak B Vangala , Swetlana Ladigan-Badura , Christoph Engel , Robert Hüneburg , Claudia Perne , Karolin Bucksch , Jacob Nattermann , Verena Steinke-Lange , Nils Rahner , Jürgen Weitz , Matthias Kloor , Judith Tomann , Ali Canbay , Huu-Phuc Nguyen , Christian Strassburg , Gabriele Möslein , Monika Morak , Elke Holinski-Feder , Reinhard Büttner , Stefan Aretz , Markus Löffler , Wolff Schmiegel , Christian Pox , Karsten Schulmann , Auteur inconnu

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.

Hereditary cancer in clinical practice
Avec: Pål Møller , Toni Seppälä , James G Dowty , Saskia Haupt , Mev Dominguez-Valentin , Lone Sunde , Inge Bernstein , Christoph Engel , Stefan Aretz , Maartje Nielsen , Gabriel Capella , Dafydd Gareth Evans , John Burn , Elke Holinski-Feder , Lucio Bertario , Bernardo Bonanni , Annika Lindblom , Zohar Levi , Finlay Macrae , Ingrid Winship , John-Paul Plazzer , Rolf Sijmons , Luigi Laghi , Adriana Della Valle , Karl Heinimann , Elizabeth Half , Francisco Lopez-Koestner , Karin Alvarez-Valenzuela , Rodney J Scott , Lior Katz , Ido Laish , Elez Vainer , Carlos Alberto Vaccaro , Dirce Maria Carraro , Nathan Gluck , Naim Abu-Freha , Aine Stakelum , Rory Kennelly , Des Winter , Benedito Mauro Rossi , Marc Greenblatt , Mabel Bohorquez , Harsh Sheth , Maria Grazia Tibiletti , Leonardo S Lino-Silva , Karoline Horisberger , Carmen Portenkirchner , Ivana Nascimento , Norma Teresa Rossi , Leandro Apolinário da Silva , Huw Thomas , Attila Zaránd , Jukka-Pekka Mecklin , Kirsi Pylvänäinen , Laura Renkonen-Sinisalo , Anna Lepisto , Päivi Peltomäki , Christina Therkildsen , Lars Joachim Lindberg , Ole Thorlacius-Ussing , Magnus von Knebel Doeberitz , Markus Loeffler , Nils Rahner , Verena Steinke-Lange , Wolff Schmiegel , Deepak Vangala , Claudia Perne , Robert Hüneburg , Aída Falcón de Vargas , Andrew Latchford , Anne-Marie Gerdes , Ann-Sofie Backman , Carmen Guillén-Ponce , Carrie Snyder , Charlotte K Lautrup , David Amor , Edenir Palmero , Elena Stoffel , Floor Duijkers , Michael J Hall , Heather Hampel , Heinric Williams , Henrik Okkels , Jan Lubiński , Jeanette Reece , Joanne Ngeow , Jose G Guillem , Julie Arnold , Karin Wadt , Kevin Monahan , Leigha Senter , Lene J Rasmussen , Liselotte P van Hest , Luigi Ricciardiello , Maija R J Kohonen-Corish , Marjolijn J L Ligtenberg , Melissa Southey , Melyssa Aronson , Mohd N Zahary , N Jewel Samadder , Nicola Poplawski , Nicoline Hoogerbrugge , Patrick J Morrison , Paul James , Grant Lee , Rakefet Chen-Shtoyerman , Ravindran Ankathil , Rish Pai , Robyn Ward , Susan Parry , Tadeusz Dębniak , Thomas John , Thomas van Overeem Hansen , Trinidad Caldés , Tatsuro Yamaguchi , Verónica Barca-Tierno , Pilar Garre , Giulia Martina Cavestro , Jürgen Weitz , Silke Redler , Reinhard Büttner , Vincent Heuveline , John L Hopper , Aung Ko Win , Noralane Lindor , Steven Gallinger , Loïc Le Marchand , Polly A Newcomb , Jane Figueiredo , Daniel D Buchanan , Stephen N Thibodeau , Sanne W Ten Broeke , Eivind Hovig , Sigve Nakken , Marta Pineda , Nuria Dueñas , Joan Brunet , Kate Green , Fiona Lalloo , Katie Newton , Emma J Crosbie , Miriam Mints , Douglas Tjandra , Florencia Neffa , Patricia Esperon , Revital Kariv , Guy Rosner , Walter Hernán Pavicic , Pablo Kalfayan , Giovana Tardin Torrezan , Thiago Bassaneze , Claudia Martin , Gabriela Moslein , Aysel Ahadova , Matthias Kloor , Julian R Sampson , Mark A Jenkins , Auteur inconnu

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Isabel Spier , Xiaoyu Yin , Marcy Richardson , Marta Pineda , Andreas Laner , Deborah Ritter , Julie Boyle , Pilar Mur , Thomas V O Hansen , Xuemei Shi , Khalid Mahmood , John-Paul Plazzer , Elisabet Ognedal , Margareta Nordling , Susan M Farrington , Gou Yamamoto , Stéphanie Baert-Desurmont , Alexandra Martins , Ester Borras , Carli Tops , Erica Webb , Victoria Beshay , Maurizio Genuardi , Tina Pesaran , Gabriel Capellá , Sean V Tavtigian , Andrew Latchford , Ian M Frayling , Sharon E Plon , Marc Greenblatt , Finlay A Macrae , Stefan Aretz , Auteur inconnu

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

American journal of human genetics
Avec: Xiaoyu Yin , Marcy Richardson , Andreas Laner , Xuemei Shi , Elisabet Ognedal , Valeria Vasta , Thomas V O Hansen , Marta Pineda , Deborah Ritter , Johan de Dunnen , Emadeldin Hassanin , Wencong Lyman Lin , Ester Borras , Karl Krahn , Margareta Nordling , Alexandra Martins , Khalid Mahmood , Emily Nadeau , Victoria Beshay , Carli Tops , Maurizio Genuardi , Tina Pesaran , Ian M Frayling , Gabriel Capellá , Andrew Latchford , Sean V Tavtigian , Carlo Maj , Sharon E Plon , Marc S Greenblatt , Finlay A Macrae , Isabel Spier , Stefan Aretz

[Current recommendations for surveillance, risk reduction and therapy in Lynch syndrome patients].

Zeitschrift fur Gastroenterologie
Avec: Robert Hüneburg , Stefan Aretz , Reinhard Büttner , Severin Daum , Christoph Engel , Guido Fechner , Jens K Habermann , Dominik Heling , Katrin Hoffmann , Elke Holinski-Feder , Matthias Kloor , Magnus von Knebel-Döberitz , Markus Loeffler , Gabriela Möslein , Claudia Perne , Silke Redler , Olaf Rieß , Wolff Schmiegel , Thomas Seufferlein , Ulrike Siebers-Renelt , Verena Steinke-Lange , Johanna Tecklenburg , Deepak Vangala , Tim Vilz , Jürgen Weitz , Bertram Wiedenmann , Christian P Strassburg , Jacob Nattermann

Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics.

International journal of cancer
Avec: Hendrik Bläker , Saskia Haupt , Monika Morak , Elke Holinski-Feder , Alexander Arnold , David Horst , Julia Sieber-Frank , Florian Seidler , Moritz von Winterfeld , Elizabeth Alwers , Jenny Chang-Claude , Hermann Brenner , Wilfried Roth , Christoph Engel , Markus Löffler , Gabriela Möslein , Hans-Konrad Schackert , Jürgen Weitz , Claudia Perne , Stefan Aretz , Robert Hüneburg , Wolff Schmiegel , Deepak Vangala , Nils Rahner , Verena Steinke-Lange , Vincent Heuveline , Magnus von Knebel Doeberitz , Aysel Ahadova , Michael Hoffmeister , Matthias Kloor , Auteur inconnu

Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Emadeldin Hassanin , Patrick May , Rana Aldisi , Isabel Spier , Andreas J Forstner , Markus M Nöthen , Stefan Aretz , Peter Krawitz , Dheeraj Reddy Bobbili , Carlo Maj

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mev Dominguez-Valentin , Emma J Crosbie , Christoph Engel , Stefan Aretz , Finlay Macrae , Ingrid Winship , Gabriel Capella , Huw Thomas , Sigve Nakken , Eivind Hovig , Maartje Nielsen , Rolf H Sijmons , Lucio Bertario , Bernardo Bonanni , Maria Grazia Tibiletti , Giulia Martina Cavestro , Miriam Mints , Nathan Gluck , Lior Katz , Karl Heinimann , Carlos A Vaccaro , Kate Green , Fiona Lalloo , James Hill , Wolff Schmiegel , Deepak Vangala , Claudia Perne , Hans-Georg Strauß , Johanna Tecklenburg , Elke Holinski-Feder , Verena Steinke-Lange , Jukka-Pekka Mecklin , John-Paul Plazzer , Marta Pineda , Matilde Navarro , Joan Brunet Vidal , Revital Kariv , Guy Rosner , Tamara Alejandra Piñero , María Laura Gonzalez , Pablo Kalfayan , Neil Ryan , Sanne W Ten Broeke , Mark A Jenkins , Lone Sunde , Inge Bernstein , John Burn , Marc Greenblatt , Wouter H de Vos Tot Nederveen Cappel , Adriana Della Valle , Francisco Lopez-Koestner , Karin Alvarez , Reinhard Büttner , Heike Görgens , Monika Morak , Stefanie Holzapfel , Robert Hüneburg , Magnus von Knebel Doeberitz , Markus Loeffler , Nils Rahner , Jürgen Weitz , Kirsi Pylvänäinen , Laura Renkonen-Sinisalo , Anna Lepistö , Annika Auranen , John L Hopper , Aung Ko Win , Robert W Haile , Noralane M Lindor , Steven Gallinger , Loïc Le Marchand , Polly A Newcomb , Jane C Figueiredo , Stephen N Thibodeau , Christina Therkildsen , Henrik Okkels , Zohreh Ketabi , Oliver G Denton , Einar Andreas Rødland , Hans Vasen , Florencia Neffa , Patricia Esperon , Douglas Tjandra , Gabriela Möslein , Julian R Sampson , D Gareth Evans , Toni T Seppälä , Pål Møller

Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status.

Cancers
Avec: Tim Marwitz , Robert Hüneburg , Isabel Spier , Jan-Frederic Lau , Glen Kristiansen , Philipp Lingohr , Jörg C Kalff , Stefan Aretz , Jacob Nattermann , Christian P Strassburg

Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline.

Geburtshilfe und Frauenheilkunde
Avec: Christian Peter Kratz , Verena Steinke-Lange , Isabel Spier , Stefan Aretz , Evelin Schröck , Elke Holinski-Feder

Germline mutations in

Journal of medical genetics
Avec: Yasmin Soares de Lima , Coral Arnau-Collell , Jenifer Muñoz , Cristina Herrera-Pariente , Leticia Moreira , Teresa Ocaña , Marcos Díaz-Gay , Sebastià Franch-Expósito , Miriam Cuatrecasas , Sabela Carballal , Anael Lopez-Novo , Lorena Moreno , Guerau Fernàndez , Aranzazu Díaz de Bustamante , Sophia Peters , Anna K Sommer , Isabel Spier , Iris B A W Te Paske , Yasmijn J van Herwaarden , Antoni Castells , Luis Bujanda , Gabriel Capellà , Verena Steinke-Lange , Khalid Mahmood , JiHoon Eric Joo , Julie Arnold , Susan Parry , Finlay A Macrae , Ingrid M Winship , Christophe Rosty , Joaquin Cubiella , Daniel Rodríguez-Alcalde , Elke Holinski-Feder , Richarda de Voer , Daniel D Buchanan , Stefan Aretz , Clara Ruiz-Ponte , Laura Valle , Francesc Balaguer , Laia Bonjoch , Sergi Castellvi-Bel

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.

BMC medical genomics
Avec: Emadeldin Hassanin , Isabel Spier , Dheeraj R Bobbili , Rana Aldisi , Hannah Klinkhammer , Friederike David , Nuria Dueñas , Robert Hüneburg , Claudia Perne , Joan Brunet , Gabriel Capella , Markus M Nöthen , Andreas J Forstner , Andreas Mayr , Peter Krawitz , Patrick May , Stefan Aretz , Carlo Maj

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.

EClinicalMedicine
Avec: Mev Dominguez-Valentin , Saskia Haupt , Toni T Seppälä , Julian R Sampson , Lone Sunde , Inge Bernstein , Mark A Jenkins , Christoph Engel , Stefan Aretz , Maartje Nielsen , Gabriel Capella , Francesc Balaguer , Dafydd Gareth Evans , John Burn , Elke Holinski-Feder , Lucio Bertario , Bernardo Bonanni , Annika Lindblom , Zohar Levi , Finlay Macrae , Ingrid Winship , John-Paul Plazzer , Rolf Sijmons , Luigi Laghi , Adriana Della Valle , Karl Heinimann , Tadeusz Dębniak , Robert Fruscio , Francisco Lopez-Koestner , Karin Alvarez-Valenzuela , Lior H Katz , Ido Laish , Elez Vainer , Carlos Vaccaro , Dirce Maria Carraro , Kevin Monahan , Elizabeth Half , Aine Stakelum , Des Winter , Rory Kennelly , Nathan Gluck , Harsh Sheth , Naim Abu-Freha , Marc Greenblatt , Benedito Mauro Rossi , Mabel Bohorquez , Giulia Martina Cavestro , Leonardo S Lino-Silva , Karoline Horisberger , Maria Grazia Tibiletti , Ivana do Nascimento , Huw Thomas , Norma Teresa Rossi , Leandro Apolinário da Silva , Attila Zaránd , Juan Ruiz-Bañobre , Vincent Heuveline , Jukka-Pekka Mecklin , Kirsi Pylvänäinen , Laura Renkonen-Sinisalo , Anna Lepistö , Päivi Peltomäki , Christina Therkildsen , Mia Gebauer Madsen , Stefan Kobbelgaard Burgdorf , John L Hopper , Aung Ko Win , Robert W Haile , Noralane Lindor , Steven Gallinger , Loïc Le Marchand , Polly A Newcomb , Jane Figueiredo , Daniel D Buchanan , Stephen N Thibodeau , Magnus von Knebel Doeberitz , Markus Loeffler , Nils Rahner , Evelin Schröck , Verena Steinke-Lange , Wolff Schmiegel , Deepak Vangala , Claudia Perne , Robert Hüneburg , Silke Redler , Reinhard Büttner , Jürgen Weitz , Marta Pineda , Nuria Duenas , Joan Brunet Vidal , Leticia Moreira , Ariadna Sánchez , Eivind Hovig , Sigve Nakken , Kate Green , Fiona Lalloo , James Hill , Emma Crosbie , Miriam Mints , Yael Goldberg , Douglas Tjandra , Sanne W Ten Broeke , Revital Kariv , Guy Rosner , Suresh H Advani , Lidiya Thomas , Pankaj Shah , Mithun Shah , Florencia Neffa , Patricia Esperon , Walter Pavicic , Giovana Tardin Torrezan , Thiago Bassaneze , Claudia Alejandra Martin , Gabriela Moslein , Pål Moller

Real-time use of artificial intelligence (CADEYE) in colorectal cancer surveillance of patients with Lynch syndrome-A randomized controlled pilot trial (CADLY).

United European gastroenterology journal
Avec: Robert Hüneburg , Karolin Bucksch , Friederike Schmeißer , Dominik Heling , Tim Marwitz , Stefan Aretz , Dominik J Kaczmarek , Glen Kristiansen , Oliver Hommerding , Christian P Strassburg , Christoph Engel , Jacob Nattermann

Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome.

Journal of medical genetics
Avec: Nuria Dueñas , Hannah Klinkhammer , Nuria Bonifaci , Isabel Spier , Andreas Mayr , Emadeldin Hassanin , Anna Diez-Villanueva , Victor Moreno , Marta Pineda , Carlo Maj , Gabriel Capellà , Stefan Aretz , Joan Brunet

Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement.

Hereditary cancer in clinical practice
Avec: Pal Møller , Toni T Seppälä , Aysel Ahadova , Emma J Crosbie , Elke Holinski-Feder , Rodney Scott , Saskia Haupt , Gabriela Möslein , Ingrid Winship , Sanne W Bajwa-Ten Broeke , Kelly E Kohut , Neil Ryan , Peter Bauerfeind , Laura E Thomas , D Gareth Evans , Stefan Aretz , Rolf H Sijmons , Elizabeth Half , Karl Heinimann , Karoline Horisberger , Kevin Monahan , Christoph Engel , Giulia Martina Cavestro , Robert Fruscio , Naim Abu-Freha , Levi Zohar , Luigi Laghi , Lucio Bertario , Bernardo Bonanni , Maria Grazia Tibiletti , Leonardo S Lino-Silva , Carlos Vaccaro , Adriana Della Valle , Benedito Mauro Rossi , Leandro Apolinário da Silva , Ivana Lucia de Oliveira Nascimento , Norma Teresa Rossi , Tadeusz Dębniak , Jukka-Pekka Mecklin , Inge Bernstein , Annika Lindblom , Lone Sunde , Sigve Nakken , Vincent Heuveline , John Burn , Eivind Hovig , Matthias Kloor , Julian R Sampson , Mev Dominguez-Valentin , Auteur inconnu

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

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mev Dominguez-Valentin , Julian R Sampson , Toni T Seppälä , Sanne W Ten Broeke , John-Paul Plazzer , Sigve Nakken , Christoph Engel , Stefan Aretz , Mark A Jenkins , Lone Sunde , Inge Bernstein , Gabriel Capella , Francesc Balaguer , Huw Thomas , D Gareth Evans , John Burn , Marc Greenblatt , Eivind Hovig , Wouter H de Vos Tot Nederveen Cappel , Rolf H Sijmons , Lucio Bertario , Maria Grazia Tibiletti , Giulia Martina Cavestro , Annika Lindblom , Adriana Della Valle , Francisco Lopez-Köstner , Nathan Gluck , Lior H Katz , Karl Heinimann , Carlos A Vaccaro , Reinhard Büttner , Heike Görgens , Elke Holinski-Feder , Monika Morak , Stefanie Holzapfel , Robert Hüneburg , Magnus von Knebel Doeberitz , Markus Loeffler , Nils Rahner , Hans K Schackert , Verena Steinke-Lange , Wolff Schmiegel , Deepak Vangala , Kirsi Pylvänäinen , Laura Renkonen-Sinisalo , John L Hopper , Aung Ko Win , Robert W Haile , Noralane M Lindor , Steven Gallinger , Loïc Le Marchand , Polly A Newcomb , Jane C Figueiredo , Stephen N Thibodeau , Karin Wadt , Christina Therkildsen , Henrik Okkels , Zohreh Ketabi , Leticia Moreira , Ariadna Sánchez , Miquel Serra-Burriel , Marta Pineda , Matilde Navarro , Ignacio Blanco , Kate Green , Fiona Lalloo , Emma J Crosbie , James Hill , Oliver G Denton , Ian M Frayling , Einar Andreas Rødland , Hans Vasen , Miriam Mints , Florencia Neffa , Patricia Esperon , Karin Alvarez , Revital Kariv , Guy Rosner , Tamara Alejandra Pinero , María Laura Gonzalez , Pablo Kalfayan , Douglas Tjandra , Ingrid M Winship , Finlay Macrae , Gabriela Möslein , Jukka-Pekka Mecklin , Maartje Nielsen , Pål Møller

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.

Journal of clinical medicine
Avec: Mev Dominguez-Valentin , Toni T Seppälä , Christoph Engel , Stefan Aretz , Finlay Macrae , Ingrid Winship , Gabriel Capella , Huw Thomas , Eivind Hovig , Maartje Nielsen , Rolf H Sijmons , Lucio Bertario , Bernardo Bonanni , Maria Grazia Tibiletti , Giulia Martina Cavestro , Miriam Mints , Nathan Gluck , Lior Katz , Karl Heinimann , Carlos A Vaccaro , Kate Green , Fiona Lalloo , James Hill , Wolff Schmiegel , Deepak Vangala , Claudia Perne , Hans-Georg Strauß , Johanna Tecklenburg , Elke Holinski-Feder , Verena Steinke-Lange , Jukka-Pekka Mecklin , John-Paul Plazzer , Marta Pineda , Matilde Navarro , Joan Brunet Vidal , Revital Kariv , Guy Rosner , Tamara Alejandra Piñero , María Laura Gonzalez , Pablo Kalfayan , Julian R Sampson , Neil A J Ryan , D Gareth Evans , Pål Møller , Emma J Crosbie

Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics.

Familial cancer
Avec: Monika Morak , Verena Steinke-Lange , Trisari Massdorf , Anna Benet-Pages , Melanie Locher , Andreas Laner , Katrin Kayser , Stefan Aretz , Elke Holinski-Feder

[Outcomes after Prophylactic Total Gastrectomy for Hereditary Diffuse Gastric Cancer].

Zentralblatt fur Chirurgie
Avec: Dimitrios Pantelis , Philipp Lingohr , Robert Hueneburg , Isabel Spier , Tim Vilz , Jan F Lau , Jacob Nattermann , Stefan Aretz , Christian P Strassburg , Jörg C Kalff

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.

Hereditary cancer in clinical practice
Avec: Toni T Seppälä , Aysel Ahadova , Mev Dominguez-Valentin , Finlay Macrae , D Gareth Evans , Christina Therkildsen , Julian Sampson , Rodney Scott , John Burn , Gabriela Möslein , Inge Bernstein , Elke Holinski-Feder , Kirsi Pylvänäinen , Laura Renkonen-Sinisalo , Anna Lepistö , Charlotte Kvist Lautrup , Annika Lindblom , John-Paul Plazzer , Ingrid Winship , Douglas Tjandra , Lior H Katz , Stefan Aretz , Robert Hüneburg , Stefanie Holzapfel , Karl Heinimann , Adriana Della Valle , Florencia Neffa , Nathan Gluck , Wouter H de Vos Tot Nederveen Cappel , Hans Vasen , Monika Morak , Verena Steinke-Lange , Christoph Engel , Nils Rahner , Wolff Schmiegel , Deepak Vangala , Huw Thomas , Kate Green , Fiona Lalloo , Emma J Crosbie , James Hill , Gabriel Capella , Marta Pineda , Matilde Navarro , Ignacio Blanco , Sanne Ten Broeke , Maartje Nielsen , Ken Ljungmann , Sigve Nakken , Noralane Lindor , Ian Frayling , Eivind Hovig , Lone Sunde , Matthias Kloor , Jukka-Pekka Mecklin , Mette Kalager , Pål Møller

A matched-pair analysis on survival and response rates between German and non-German cancer patients treated at a Comprehensive Cancer Center.

BMC cancer
Avec: Marie K Budde , Walther Kuhn , Mignon-Denise Keyver-Paik , Friedrich Bootz , Jörg C Kalff , Stefan C Müller , Thomas Bieber , Peter Brossart , Hartmut Vatter , Ulrich Herrlinger , Dieter C Wirtz , Hans H Schild , Glen Kristiansen , Thorsten Pietsch , Stefan Aretz , Franziska Geiser , Lukas Radbruch , Rudolf H Reich , Christian P Strassburg , Dirk Skowasch , Markus Essler , Nicole Ernstmann , Jennifer Landsberg , Benjamin Funke , Ingo G H Schmidt-Wolf

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.

European journal of cancer (Oxford, England : 1990)
Avec: Toni T Seppälä , Mev Dominguez-Valentin , Emma J Crosbie , Christoph Engel , Stefan Aretz , Finlay Macrae , Ingrid Winship , Gabriel Capella , Huw Thomas , Eivind Hovig , Maartje Nielsen , Rolf H Sijmons , Lucio Bertario , Bernardo Bonanni , Maria G Tibiletti , Giulia M Cavestro , Miriam Mints , Nathan Gluck , Lior Katz , Karl Heinimann , Carlos A Vaccaro , Kate Green , Fiona Lalloo , James Hill , Wolff Schmiegel , Deepak Vangala , Claudia Perne , Hans-Georg Strauß , Johanna Tecklenburg , Elke Holinski-Feder , Verena Steinke-Lange , Jukka-Pekka Mecklin , John-Paul Plazzer , Marta Pineda , Matilde Navarro , Joan B Vida , Revital Kariv , Guy Rosner , Tamara A Piñero , Walter Pavicic , Pablo Kalfayan , Sanne W Ten Broeke , Mark A Jenkins , Lone Sunde , Inge Bernstein , John Burn , Marc Greenblatt , Wouter H de Vos Tot Nederveen Cappel , Adriana Della Valle , Francisco Lopez-Koestner , Karin Alvarez , Reinhard Büttner , Heike Görgens , Monika Morak , Stefanie Holzapfel , Robert Hüneburg , Magnus von Knebel Doeberitz , Markus Loeffler , Silke Redler , Jürgen Weitz , Kirsi Pylvänäinen , Laura Renkonen-Sinisalo , Anna Lepistö , John L Hopper , Aung K Win , Noralane M Lindor , Steven Gallinger , Loïc Le Marchand , Polly A Newcomb , Jane C Figueiredo , Stephen N Thibodeau , Christina Therkildsen , Karin A W Wadt , Marian J E Mourits , Zohreh Ketabi , Oliver G Denton , Einar A Rødland , Hans Vasen , Florencia Neffa , Patricia Esperon , Douglas Tjandra , Gabriela Möslein , Erik Rokkones , Julian R Sampson , D G Evans , Pål Møller

[Hospital inhouse contact tracing-significant impact to patient care during the coronavirus pandemic].

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
Avec: Florian Quacken , Ingo Greiffendorf , Susanne Ropertz , David Peters , Sebastian Bergrath , Andreas Lahm , Alexander Pesch , Marie-Luise Wimmer-Dahmen , Ullrich Graeven

The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline.

Journal of clinical medicine
Avec: Anja Wagner , Stefan Aretz , Annika Auranen , Marco J Bruno , Giulia M Cavestro , Emma J Crosbie , Anne Goverde , Anne Marie Jelsig , Andrew Latchford , Monique E van Leerdam , Anna Lepisto , Marta Puzzono , Ingrid Winship , Veronica Zuber , Gabriela Möslein

Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Robert Blatter , Benjamin Tschupp , Stefan Aretz , Inge Bernstein , Chrystelle Colas , D Gareth Evans , Maurizio Genuardi , Frederik J Hes , Robert Hüneburg , Heikki Järvinen , Fiona Lalloo , Gabriela Moeslein , Laura Renkonen-Sinisalo , Nicoletta Resta , Isabel Spier , Dora Varvara , Hans Vasen , Andrew R Latchford , Karl Heinimann

Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review.

European journal of medical genetics
Avec: Linda A J Hendricks , Janneke Schuurs-Hoeijmakers , Isabel Spier , Maaike L Haadsma , Astrid Eijkelenboom , Kirsten Cremer , Arjen R Mensenkamp , Stefan Aretz , Janet R Vos , Nicoline Hoogerbrugge

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in

Journal of clinical medicine
Avec: Mev Dominguez-Valentin , John-Paul Plazzer , Julian R Sampson , Christoph Engel , Stefan Aretz , Mark A Jenkins , Lone Sunde , Inge Bernstein , Gabriel Capella , Francesc Balaguer , Finlay Macrae , Ingrid M Winship , Huw Thomas , Dafydd Gareth Evans , John Burn , Marc Greenblatt , Wouter H de Vos Tot Nederveen Cappel , Rolf H Sijmons , Maartje Nielsen , Lucio Bertario , Bernardo Bonanni , Maria Grazia Tibiletti , Giulia Martina Cavestro , Annika Lindblom , Adriana Della Valle , Francisco Lopez-Kostner , Karin Alvarez , Nathan Gluck , Lior Katz , Karl Heinimann , Carlos A Vaccaro , Sigve Nakken , Eivind Hovig , Kate Green , Fiona Lalloo , James Hill , Hans F A Vasen , Claudia Perne , Reinhard Büttner , Heike Görgens , Elke Holinski-Feder , Monika Morak , Stefanie Holzapfel , Robert Hüneburg , Magnus von Knebel Doeberitz , Markus Loeffler , Nils Rahner , Jürgen Weitz , Verena Steinke-Lange , Wolff Schmiegel , Deepak Vangala , Emma J Crosbie , Marta Pineda , Matilde Navarro , Joan Brunet , Leticia Moreira , Ariadna Sánchez , Miquel Serra-Burriel , Miriam Mints , Revital Kariv , Guy Rosner , Tamara Alejandra Piñero , Walter Hernán Pavicic , Pablo Kalfayan , Sanne W Ten Broeke , Jukka-Pekka Mecklin , Kirsi Pylvänäinen , Laura Renkonen-Sinisalo , Anna Lepistö , Päivi Peltomäki , John L Hopper , Aung Ko Win , Daniel D Buchanan , Noralane M Lindor , Steven Gallinger , Loïc Le Marchand , Polly A Newcomb , Jane C Figueiredo , Stephen N Thibodeau , Christina Therkildsen , Thomas V O Hansen , Lars Lindberg , Einar Andreas Rødland , Florencia Neffa , Patricia Esperon , Douglas Tjandra , Gabriela Möslein , Toni T Seppälä , Pål Møller

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.

European journal of medical genetics
Avec: Linda A J Hendricks , Nicoline Hoogerbrugge , Hanka Venselaar , Stefan Aretz , Isabel Spier , Eric Legius , Hilde Brems , Robin de Putter , Kathleen B M Claes , D Gareth Evans , Emma R Woodward , Maurizio Genuardi , Fulvia Brugnoletti , Yvette van Ierland , Kim Dijke , Emma Tham , Bianca Tesi , Janneke H M Schuurs-Hoeijmakers , Maud Branchaud , Hector Salvador , Arne Jahn , Simon Schnaiter , Violetta Christophidou Anastasiadou , Joan Brunet , Carla Oliveira , Laura Roht , Ana Blatnik , Arvids Irmejs , Auteur inconnu , Arjen R Mensenkamp , Janet R Vos

Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas.

Acta neuropathologica
Avec: Tobias Goschzik , Martin Mynarek , Evelyn Doerner , Alina Schenk , Isabel Spier , Monika Warmuth-Metz , Brigitte Bison , Denise Obrecht , Nina Struve , Rolf-Dieter Kortmann , Matthias Schmid , Stefan Aretz , Stefan Rutkowski , Torsten Pietsch

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

The Lancet. Oncology
Avec: José Garcia-Pelaez , Rita Barbosa-Matos , Silvana Lobo , Alexandre Dias , Luzia Garrido , Sérgio Castedo , Sónia Sousa , Hugo Pinheiro , Liliana Sousa , Rita Monteiro , Joaquin J Maqueda , Susana Fernandes , Fátima Carneiro , Nádia Pinto , Carolina Lemos , Carla Pinto , Manuel R Teixeira , Stefan Aretz , Svetlana Bajalica-Lagercrantz , Judith Balmaña , Ana Blatnik , Patrick R Benusiglio , Maud Blanluet , Vincent Bours , Hilde Brems , Joan Brunet , Daniele Calistri , Gabriel Capellá , Sergio Carrera , Chrystelle Colas , Karin Dahan , Robin de Putter , Camille Desseignés , Elena Domínguez-Garrido , Conceição Egas , D Gareth Evans , Damien Feret , Eleanor Fewings , Rebecca C Fitzgerald , Florence Coulet , María Garcia-Barcina , Maurizio Genuardi , Lisa Golmard , Karl Hackmann , Helen Hanson , Elke Holinski-Feder , Robert Hüneburg , Mateja Krajc , Kristina Lagerstedt-Robinson , Conxi Lázaro , Marjolijn J L Ligtenberg , Cristina Martínez-Bouzas , Sonia Merino , Geneviève Michils , Srdjan Novaković , Ana Patiño-García , Guglielmina Nadia Ranzani , Evelin Schröck , Inês Silva , Catarina Silveira , José L Soto , Isabel Spier , Verena Steinke-Lange , Gianluca Tedaldi , María-Isabel Tejada , Emma R Woodward , Marc Tischkowitz , Nicoline Hoogerbrugge , Carla Oliveira

[Gastrointestinal polyposis syndromes].

Der Internist
Avec: I Spier , R Hüneburg , S Aretz

Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome.

Gastroenterology
Avec: Christoph Engel , Aysel Ahadova , Toni T Seppälä , Stefan Aretz , Marloes Bigirwamungu-Bargeman , Hendrik Bläker , Karolin Bucksch , Reinhard Büttner , Wouter T de Vos Tot Nederveen Cappel , Volker Endris , Elke Holinski-Feder , Stefanie Holzapfel , Robert Hüneburg , Maarten A J M Jacobs , Jan J Koornstra , Alexandra M Langers , Anna Lepistö , Monika Morak , Gabriela Möslein , Päivi Peltomäki , Kirsi Pylvänäinen , Nils Rahner , Laura Renkonen-Sinisalo , Karsten Schulmann , Verena Steinke-Lange , Albrecht Stenzinger , Christian P Strassburg , Paul C van de Meeberg , Mariette van Kouwen , Monique van Leerdam , Deepak B Vangala , Juda Vecht , Marie-Louise Verhulst , Magnus von Knebel Doeberitz , Jürgen Weitz , Silke Zachariae , Markus Loeffler , Jukka-Pekka Mecklin , Matthias Kloor , Hans F Vasen , Auteur inconnu , Auteur inconnu

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Manon Suerink , Mar Rodríguez-Girondo , Heleen M van der Klift , Chrystelle Colas , Laurence Brugieres , Noémie Lavoine , Marjolijn Jongmans , Gabriel Capellá Munar , D Gareth Evans , Michael P Farrell , Maurizio Genuardi , Yael Goldberg , Encarna Gomez-Garcia , Karl Heinimann , Jessica I Hoell , Stefan Aretz , Kory W Jasperson , Inbal Kedar , Mitul B Modi , Sergey Nikolaev , Theo A M van Os , Tim Ripperger , Daniel Rueda , Leigha Senter , Wenche Sjursen , Lone Sunde , Christina Therkildsen , Maria G Tibiletti , Alison H Trainer , Yvonne J Vos , Anja Wagner , Ingrid Winship , Katharina Wimmer , Stefanie Y Zimmermann , Hans F Vasen , Christi J van Asperen , Jeanine J Houwing-Duistermaat , Sanne W Ten Broeke , Maartje Nielsen

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

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mev Dominguez-Valentin , Julian R Sampson , Toni T Seppälä , Sanne W Ten Broeke , John-Paul Plazzer , Sigve Nakken , Christoph Engel , Stefan Aretz , Mark A Jenkins , Lone Sunde , Inge Bernstein , Gabriel Capella , Francesc Balaguer , Huw Thomas , D Gareth Evans , John Burn , Marc Greenblatt , Eivind Hovig , Wouter H de Vos Tot Nederveen Cappel , Rolf H Sijmons , Lucio Bertario , Maria Grazia Tibiletti , Giulia Martina Cavestro , Annika Lindblom , Adriana Della Valle , Francisco Lopez-Köstner , Nathan Gluck , Lior H Katz , Karl Heinimann , Carlos A Vaccaro , Reinhard Büttner , Heike Görgens , Elke Holinski-Feder , Monika Morak , Stefanie Holzapfel , Robert Hüneburg , Magnus von Knebel Doeberitz , Markus Loeffler , Nils Rahner , Hans K Schackert , Verena Steinke-Lange , Wolff Schmiegel , Deepak Vangala , Kirsi Pylvänäinen , Laura Renkonen-Sinisalo , John L Hopper , Aung Ko Win , Robert W Haile , Noralane M Lindor , Steven Gallinger , Loïc Le Marchand , Polly A Newcomb , Jane C Figueiredo , Stephen N Thibodeau , Karin Wadt , Christina Therkildsen , Henrik Okkels , Zohreh Ketabi , Leticia Moreira , Ariadna Sánchez , Miquel Serra-Burriel , Marta Pineda , Matilde Navarro , Ignacio Blanco , Kate Green , Fiona Lalloo , Emma J Crosbie , James Hill , Oliver G Denton , Ian M Frayling , Einar Andreas Rødland , Hans Vasen , Miriam Mints , Florencia Neffa , Patricia Esperon , Karin Alvarez , Revital Kariv , Guy Rosner , Tamara Alejandra Pinero , María Laura Gonzalez , Pablo Kalfayan , Douglas Tjandra , Ingrid M Winship , Finlay Macrae , Gabriela Möslein , Jukka-Pekka Mecklin , Maartje Nielsen , Pål Møller

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

Human mutation
Avec: Richard Gallon , Barbara Mühlegger , Sören-Sebastian Wenzel , Harsh Sheth , Christine Hayes , Stefan Aretz , Karin Dahan , William Foulkes , Christian P Kratz , Tim Ripperger , Amedeo A Azizi , Hagit Baris Feldman , Anne-Laure Chong , Ugur Demirsoy , Benoît Florkin , Thomas Imschweiler , Danuta Januszkiewicz-Lewandowska , Stephan Lobitz , Michaela Nathrath , Hans-Jürgen Pander , Vanesa Perez-Alonso , Claudia Perne , Iman Ragab , Thorsten Rosenbaum , Daniel Rueda , Markus G Seidel , Manon Suerink , Julia Taeubner , Stefanie-Yvonne Zimmermann , Johannes Zschocke , Gillian M Borthwick , John Burn , Michael S Jackson , Mauro Santibanez-Koref , Katharina Wimmer

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

Cancer cell
Avec: Judith E Grolleman , Richarda M de Voer , Fadwa A Elsayed , Maartje Nielsen , Robbert D A Weren , Claire Palles , Marjolijn J L Ligtenberg , Janet R Vos , Sanne W Ten Broeke , Noel F C C de Miranda , Renske A Kuiper , Eveline J Kamping , Erik A M Jansen , M Elisa Vink-Börger , Isabell Popp , Alois Lang , Isabel Spier , Robert Hüneburg , Paul A James , Na Li , Marija Staninova , Helen Lindsay , David Cockburn , Olivera Spasic-Boskovic , Mark Clendenning , Kevin Sweet , Gabriel Capellá , Wenche Sjursen , Hildegunn Høberg-Vetti , Marjolijn C Jongmans , Kornelia Neveling , Ad Geurts van Kessel , Hans Morreau , Frederik J Hes , Rolf H Sijmons , Hans K Schackert , Clara Ruiz-Ponte , Dagmara Dymerska , Jan Lubinski , Barbara Rivera , William D Foulkes , Ian P Tomlinson , Laura Valle , Daniel D Buchanan , Sue Kenwrick , Julian Adlard , Aleksandar J Dimovski , Ian G Campbell , Stefan Aretz , Detlev Schindler , Tom van Wezel , Nicoline Hoogerbrugge , Roland P Kuiper

Basal cell carcinomas developing independently from BAP1-tumor predisposition syndrome in a patient with bilateral uveal melanoma: Diagnostic challenges to identify patients with BAP1-TPDS.

Genes, chromosomes & cancer
Avec: Charlotte Melzer , Amit Sharma , Sophia Peters , Stefan Aretz , Arijit Biswas , Frank G Holz , Karin U Loeffler , Martina C Herwig-Carl

[Rare tumors as leading symptom of hereditary tumor syndromes].

Der Pathologe
Avec: Claudia Perne , Verena Steinke-Lange , Stefan Aretz , Isabel Spier

Cancer predisposition and germline CTNNA1 variants.

European journal of medical genetics
Avec: Silvana Lobo , Patrick R Benusiglio , Florence Coulet , Lise Boussemart , Lisa Golmard , Isabel Spier , Robert Hüneburg , Stefan Aretz , Chrystelle Colas , Carla Oliveira

Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.

European journal of medical genetics
Avec: Anna K Sommer , Iris B A W Te Paske , José Garcia-Pelaez , Andreas Laner , Elke Holinski-Feder , Verena Steinke-Lange , Sophia Peters , Laura Valle , Isabel Spier , David Huntsman , Auteur inconnu , Carla Oliveira , Richarda M de Voer , Nicoline Hoogerbrugge , Stefan Aretz

Réseau de co-auteurs

Stefan Aretz 52 collaborations
Verena Steinke-Lange 24 collaborations
Robert Hüneburg 23 collaborations
Isabel Spier 23 collaborations
Elke Holinski-Feder 22 collaborations
Christoph Engel 19 collaborations
None None 17 collaborations
Claudia Perne 16 collaborations
Gabriela Möslein 14 collaborations
Wolff Schmiegel 14 collaborations
Marta Pineda 14 collaborations
Monika Morak 13 collaborations
Nils Rahner 13 collaborations
Maartje Nielsen 13 collaborations
Reinhard Büttner 12 collaborations
Magnus von Knebel Doeberitz 12 collaborations
Jürgen Weitz 12 collaborations
Markus Loeffler 12 collaborations
Karl Heinimann 12 collaborations
D Gareth Evans 11 collaborations
Toni T Seppälä 11 collaborations
John Burn 11 collaborations
Inge Bernstein 11 collaborations
Jukka-Pekka Mecklin 11 collaborations
Deepak Vangala 11 collaborations
Matthias Kloor 10 collaborations
Julian R Sampson 10 collaborations
Sanne W Ten Broeke 10 collaborations
Mev Dominguez-Valentin 10 collaborations
Lone Sunde 10 collaborations
Gabriel Capella 10 collaborations
John-Paul Plazzer 10 collaborations
Laura Renkonen-Sinisalo 10 collaborations
Eivind Hovig 10 collaborations
Fiona Lalloo 10 collaborations
Emma J Crosbie 10 collaborations
Stefanie Holzapfel 9 collaborations
Giulia Martina Cavestro 9 collaborations
Lucio Bertario 9 collaborations
Finlay Macrae 9 collaborations
Ingrid Winship 9 collaborations
Adriana Della Valle 9 collaborations
Nathan Gluck 9 collaborations
Huw Thomas 9 collaborations
Kirsi Pylvänäinen 9 collaborations
Christina Therkildsen 9 collaborations
Kate Green 9 collaborations
Jacob Nattermann 8 collaborations
Christian P Strassburg 8 collaborations
Pål Møller 8 collaborations
Marc Greenblatt 8 collaborations
Maria Grazia Tibiletti 8 collaborations
Sigve Nakken 8 collaborations
Miriam Mints 8 collaborations
Douglas Tjandra 8 collaborations
Florencia Neffa 8 collaborations
Revital Kariv 8 collaborations
Guy Rosner 8 collaborations
Rolf H Sijmons 8 collaborations
James Hill 8 collaborations
Nicoline Hoogerbrugge 7 collaborations
Joan Brunet 7 collaborations
Maurizio Genuardi 7 collaborations
Bernardo Bonanni 7 collaborations
Annika Lindblom 7 collaborations
John L Hopper 7 collaborations
Steven Gallinger 7 collaborations
Loïc Le Marchand 7 collaborations
Polly A Newcomb 7 collaborations
Stephen N Thibodeau 7 collaborations
Patricia Esperon 7 collaborations
Pablo Kalfayan 7 collaborations
Mark A Jenkins 7 collaborations
Matilde Navarro 7 collaborations
Karolin Bucksch 6 collaborations
Andrew Latchford 6 collaborations
Gabriel Capellá 6 collaborations
Aysel Ahadova 6 collaborations
Heike Görgens 6 collaborations
Aung Ko Win 6 collaborations
Carlos A Vaccaro 6 collaborations
Wouter H de Vos Tot Nederveen Cappel 6 collaborations
Anna Lepistö 6 collaborations
Hans Vasen 6 collaborations
Deepak B Vangala 5 collaborations
Sophia Peters 5 collaborations
Hans K Schackert 5 collaborations
Chrystelle Colas 5 collaborations
Andreas Laner 5 collaborations
Emadeldin Hassanin 5 collaborations
Ian M Frayling 5 collaborations
Carlo Maj 5 collaborations
Silke Redler 5 collaborations
Lior Katz 5 collaborations
Daniel D Buchanan 5 collaborations
Karin Alvarez 5 collaborations
Noralane M Lindor 5 collaborations
Jane C Figueiredo 5 collaborations
Leticia Moreira 5 collaborations
Francesc Balaguer 5 collaborations
Karsten Schulmann 4 collaborations
Janet R Vos 4 collaborations
Elizabeth Half 4 collaborations
Laura Valle 4 collaborations
Thomas V O Hansen 4 collaborations
Khalid Mahmood 4 collaborations
Finlay A Macrae 4 collaborations
Jörg C Kalff 4 collaborations
Glen Kristiansen 4 collaborations
Saskia Haupt 4 collaborations
Francisco Lopez-Koestner 4 collaborations
Päivi Peltomäki 4 collaborations
Henrik Okkels 4 collaborations
Vincent Heuveline 4 collaborations
Johanna Tecklenburg 4 collaborations
María Laura Gonzalez 4 collaborations
Robert W Haile 4 collaborations
Zohreh Ketabi 4 collaborations
Oliver G Denton 4 collaborations
Einar Andreas Rødland 4 collaborations
Ingrid M Winship 4 collaborations
Lior H Katz 4 collaborations
Ariadna Sánchez 4 collaborations
Carla Oliveira 4 collaborations
Silke Zachariae 3 collaborations
Anna K Sommer 3 collaborations
Swetlana Ladigan-Badura 3 collaborations
Gabriela Moeslein 3 collaborations
Linda A J Hendricks 3 collaborations
Arjen R Mensenkamp 3 collaborations
Ana Blatnik 3 collaborations
Emma R Woodward 3 collaborations
Patrick R Benusiglio 3 collaborations
Neil Ryan 3 collaborations
Xiaoyu Yin 3 collaborations
Marcy Richardson 3 collaborations
Xuemei Shi 3 collaborations
Elisabet Ognedal 3 collaborations
Deborah Ritter 3 collaborations
Ester Borras 3 collaborations
Margareta Nordling 3 collaborations
Alexandra Martins 3 collaborations
Victoria Beshay 3 collaborations
Carli Tops 3 collaborations
Tina Pesaran 3 collaborations
Sean V Tavtigian 3 collaborations
Sharon E Plon 3 collaborations
Manon Suerink 3 collaborations
Anja Wagner 3 collaborations
Dafydd Gareth Evans 3 collaborations
Luigi Laghi 3 collaborations
Naim Abu-Freha 3 collaborations
Benedito Mauro Rossi 3 collaborations
Harsh Sheth 3 collaborations
Leonardo S Lino-Silva 3 collaborations
Karoline Horisberger 3 collaborations
Norma Teresa Rossi 3 collaborations
Leandro Apolinário da Silva 3 collaborations
Karin Wadt 3 collaborations
Kevin Monahan 3 collaborations
Marjolijn J L Ligtenberg 3 collaborations
Tadeusz Dębniak 3 collaborations
Noralane Lindor 3 collaborations
Nuria Dueñas 3 collaborations
Hans-Georg Strauß 3 collaborations
Joan Brunet Vidal 3 collaborations
Tamara Alejandra Piñero 3 collaborations
Evelin Schröck 3 collaborations
Miquel Serra-Burriel 3 collaborations
Ignacio Blanco 3 collaborations
Katrin Kayser 2 collaborations
Robert Hueneburg 2 collaborations
Huu Phuc Nguyen 2 collaborations
Christian Strassburg 2 collaborations
Christian Pox 2 collaborations
Hildegunn Høberg-Vetti 2 collaborations
Marc Tischkowitz 2 collaborations
Arne Jahn 2 collaborations
Maran J W Olderode-Berends 2 collaborations
Maud Branchaud 2 collaborations
Bianca Tesi 2 collaborations
Janneke H M Schuurs-Hoeijmakers 2 collaborations
Emma Crosbie 2 collaborations
Luigi Ricciardiello 2 collaborations
Valeria Vasta 2 collaborations
Wencong Lyman Lin 2 collaborations
Karl Krahn 2 collaborations
Marc S Greenblatt 2 collaborations
S Aretz 2 collaborations
Mar Rodríguez-Girondo 2 collaborations
Kristina Lagerstedt-Robinson 2 collaborations
Kevin Sweet 2 collaborations
Franziska Geiser 2 collaborations
Peter Brossart 2 collaborations
Mignon-Denise Keyver-Paik 2 collaborations
Hartmut Vatter 2 collaborations
Friedrich Bootz 2 collaborations
Jennifer Landsberg 2 collaborations
Ulrich Herrlinger 2 collaborations
Torsten Pietsch 2 collaborations
Lukas Radbruch 2 collaborations
Dirk Skowasch 2 collaborations
Markus Essler 2 collaborations
Matthias Schmid 2 collaborations
Nicole Ernstmann 2 collaborations
Amit Sharma 2 collaborations
Benjamin Funke 2 collaborations
Ingo G H Schmidt-Wolf 2 collaborations
Kirsten Cremer 2 collaborations
Markus Löffler 2 collaborations
Zohar Levi 2 collaborations
Rolf Sijmons 2 collaborations
Karin Alvarez-Valenzuela 2 collaborations
Ido Laish 2 collaborations
Elez Vainer 2 collaborations
Dirce Maria Carraro 2 collaborations
Aine Stakelum 2 collaborations
Rory Kennelly 2 collaborations
Des Winter 2 collaborations
Mabel Bohorquez 2 collaborations
Attila Zaránd 2 collaborations
Anna Lepisto 2 collaborations
Julie Arnold 2 collaborations
Leigha Senter 2 collaborations
Susan Parry 2 collaborations
Jane Figueiredo 2 collaborations
Walter Hernán Pavicic 2 collaborations
Giovana Tardin Torrezan 2 collaborations
Thiago Bassaneze 2 collaborations
Gabriela Moslein 2 collaborations
Dominik Heling 2 collaborations
Tim Vilz 2 collaborations
Hendrik Bläker 2 collaborations
Patrick May 2 collaborations
Rana Aldisi 2 collaborations
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