Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants-Reference-Cited by-同舟云学术

Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants

Published:2021-10-26 Issue:12 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Dell’Elice Anastasia¹,Cini Giulia¹,Fornasarig Mara²,Armelao Franco³,Barana Daniela⁴,Bianchi Francesca⁵,Casalis Cavalchini Guido Claudio⁶,Maffè Antonella⁷,Mammi Isabella⁸,Pedroni Monica⁹,Percesepe Antonio¹⁰^ORCID,Sorrentini Italo¹¹,Tibiletti Mariagrazia¹²¹³,Maestro Roberta¹,Quaia Michele¹,Viel Alessandra¹^ORCID

Affiliation:

1. Unit of Functional Oncogenomics and Genetics Centro di Riferimento Oncologico di Aviano (CRO) IRCCS Aviano Italy

2. Unit of Oncologic Gastroenterology Centro di Riferimento Oncologico di Aviano (CRO)IRCCS Aviano Italy

3. U.O. Multizonale Gastroenterologia ed Endoscopia Digestiva Ospedale Santa Chiara Azienda Provinciale per i Servizi sanitari Trento Italy

4. Oncology Unit Local Health and Social Care Unit ULSS8 Berica Montecchio Maggiore Italy

5. Clinica Oncologica e Centro Regionale di Genetica Oncologica Università Politecnica delle MarcheAzienda Ospedaliero‐Universitaria Ospedali Riuniti Ancona Italy

6. SC Genetica Medica U AOU Città della Salute e della Scienza di Torino Torino Italy

7. S.S. Genetica e Biologia Molecolare, S.C. Interaziendale Laboratorio Analisi Chimico Cliniche e Microbiologia ASO S Croce e Carle Cuneo Italy

8. Medical Genetics Unit Dolo General Hospital Venezia Italy

9. Dipartimento di Scienze Mediche e Chirurgiche Materno‐Infantili e dell’Adulto Università di Modena e Reggio Emilia Modena Italy

10. UO Genetica Medica AOU Parma Parma Italy

11. Ospedale San Rocco Sessa Aurunca Italy

12. Department of Pathology Circolo Hospital ASST Settelaghi Varese Italy

13. Research Center for the Study of Hereditary and Familial Tumors Department of Medicine and Surgery University of Insubria Varese Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1831

Reference31 articles.

1. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

2. Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors

3. MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

4. HGVS Recommendations for the Description of Sequence Variants: 2016 Update

5. Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

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