A second case report of medulloblastoma in a patient carrying biallelic pathogenic <i>MUTYH</i> germline variants-Reference-Cited by-同舟云学术

A second case report of medulloblastoma in a patient carrying biallelic pathogenic MUTYH germline variants

Published:2024-03-13 Issue:2 Volume:50 Page:
ISSN:0305-1846
Container-title:Neuropathology and Applied Neurobiology
language:en
Short-container-title:Neuropathology Appl Neurobio

Author:

Cipri Selene¹,Del Baldo Giada¹²,Carai Andrea³,Cacchione Antonella¹,Agolini Emanuele⁴,Novelli Antonio⁴,Rossi Sabrina⁵^ORCID,Colafati Giovanna Stefania⁶⁷,Boccuto Luigi⁸,Mastronuzzi Angela¹

Affiliation:

1. Department of Hematology/Oncology, Cell Therapy, Gene Therapies and Hemopoietic Transplant Bambino Gesù Children's Hospital, IRCCS Rome Italy

2. Department of Experimental Medicine Sapienza University of Rome Rome Italy

3. Department of Neurosciences, Neurosurgery Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy

4. Laboratory of Medical Genetics Bambino Gesù Children's Hospital, IRCCS Rome Italy

5. Pathology Unit, Department of Laboratories Bambino Gesù Children's Hospital, IRCCS Rome Italy

6. Imaging Department Bambino Gesù Children's Hospital, IRCCS Rome Italy

7. Department of Neuroscience, Imaging and Clinical Sciences (DNISC) University “Gabriele D'Annunzio” of Chieti‐Pescara Chieti Italy

8. Healthcare Genetics Program, School of Nursing, College of Behavioral, Social and Health Sciences Clemson University Clemson South Carolina USA

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/nan.12968

Reference15 articles.

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

2. MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer institute (INCa)

3. Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum

4. Risk of extracolonic cancers for people with biallelic and monoallelic mutations inMUTYH