Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium-Reference-Cited by-同舟云学术

Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium

Published:2021-02-12 Issue:5 Volume:99 Page:662-672
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Boulouard Flavie¹²^ORCID,Kasper Edwige¹,Buisine Marie‐Pierre³,Lienard Gwendoline¹,Vasseur Stéphanie¹,Manase Sandrine¹,Bahuau Michel⁴,Barouk Simonet Emmanuelle⁵,Bubien Virginie⁵,Coulet Florence⁶,Cusin Véronica⁶,Dhooge Marion⁷,Golmard Lisa⁸,Goussot Vincent⁹,Hamzaoui Nadim¹⁰,Lacaze Elodie¹¹,Lejeune Sophie¹²,Mauillon Jacques¹,Beaumont Marie‐Pascale¹³,Pinson Stéphane¹⁴,Tlemsani Camille¹⁰,Toulas Christine¹⁵,Rey Jean‐Marc¹⁶,Uhrhammer Nancy¹⁷,Bougeard Gaëlle¹,Frebourg Thierry¹,Houdayer Claude¹,Baert‐Desurmont Stéphanie¹

Affiliation:

1. Department of Genetics, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital Rouen France

2. Comprehensive Cancer Center François Baclesse Laboratory of Cancer Biology and Genetics Caen France

3. Department of Biochemistry and Molecular Biology Lille University Hospital Center, UMR 1277 Inserm‐9020 CNRS, Lille University Lille France

4. Medical genetics Department Henri Mondor Hospital Créteil France

5. Cancer Genetics Unit Institut Bergonie Bordeaux France

6. Department of Genetics Hôpitaux Universitaires Pitié Salpêtrière–Charles Foix Paris France

7. Gastroenterology Unit Cochin University Hospital, Paris Descartes University Paris France

8. Institut Curie, Department of Genetics and Paris Sciences Lettres Research University Paris France

9. Department of Tumor Biology and Pathology Georges‐François Leclerc Center Dijon France

10. Department of Oncogenetics Assistance Publique Hôpitaux de Paris, Hôpital Cochin Paris France

11. Department of Genetics Le Havre General Hospital, Normandy Centre for Genomic and Personalized Medicine Le Havre France

12. Genetic Pathology Biology Department Lille University Hospital Center, Jeanne de Flandre Hospital Lille France

13. Department of Genetics Rennes University Hospital Center Rennes France

14. Genetics Department Hospices Civils de LYON (HCL), University Hospital, East Pathology Center Bron France

15. Oncogenetic Laboratory Cancer University Institute Toulouse Oncopole Toulouse France

16. Department of Pathology and Oncobiology Montpellier University Hospital Montpellier France

17. Centre Jean Perrin Oncogenetics and Clermont Auvergne University, INSERM U1240 Clermont‐Ferrand France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13925

Reference22 articles.

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

2. Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1 ‐ and MSH3 ‐associated polyposes

3. Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

4. Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis

5. Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients—a Systematic Review

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