Methyl‐CpG binding domain 4, DNA glycosylase ( <scp>MBD4</scp> )‐associated neoplasia syndrome associated with a homozygous missense variant in <i>MBD4</i> : Expansion of an emerging phenotype-Reference-Cited by-同舟云学术

Methyl‐CpG binding domain 4, DNA glycosylase ( MBD4 )‐associated neoplasia syndrome associated with a homozygous missense variant in MBD4 : Expansion of an emerging phenotype

Published:2022-04-05 Issue:1 Volume:198 Page:196-199
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Blombery Piers¹²^ORCID,Ryland Georgina L.¹²³^ORCID,Fox Lucy C.¹²^ORCID,Stark Zornitza⁴⁵,Wall Meg⁴,Jarmolowicz Anna¹,Roesley Ain⁴,Thompson Ella R.¹²^ORCID,Grimmond Sean M.³,Panicker Shyam⁶,Kwok Fiona⁶

Affiliation:

1. Peter MacCallum Cancer Centre Melbourne Victoria Australia

2. Sir Peter MacCallum Department of Oncology University of Melbourne Parkville Victoria Australia

3. The University of Melbourne Centre for Cancer Research Melbourne Victoria Australia

4. Victorian Clinical Genetics Services Murdoch Children's Research Institute Melbourne Victoria Australia

5. Department of Paediatrics University of Melbourne Melbourne Victoria Australia

6. Clinical Haematology Westmead Hospital Sydney New South Wales Australia

Funder

Snowdome Foundation

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.18178

Reference5 articles.

1. Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia

2. MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML

3. Comparative Analysis of the Activity of the Polymorphic Variants of Human Uracil-DNA-Glycosylases SMUG1 and MBD4

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

5. Next Generation Sequencing of Sporadic Vestibular Schwannoma: Necessity of Biallelic NF2 Inactivation and Implications of Accessory Non-NF2 Variants

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