Dominantly Inherited Constitutional Epigenetic Silencing of MLH1 in a Cancer-Affected Family Is Linked to a Single Nucleotide Variant within the 5′UTR

Megan P. Hitchins, Robert W. Rapkins, Chau‐To Kwok, +6

Cancer Cell

ChromatinGenome InstabilityConstitutional Epigenetic SilencingMedicineGenetics +11

Intron retention is regulated by altered MeCP2-mediated splicing factor recruitment

Justin Wong, Dadi Gao, Trung Viet Nguyen, +9

Nature Communications

<i>De novo</i> constitutional <i>MLH1</i> epimutations confer early‐onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one

Ajay Goel, Thuy‐Phuong Nguyen, Hon‐Chiu Eastwood Leung, +12

International Journal of Cancer

Paternal AlleleCancer PathologyGeneticsPathologyMolecular Genetics +14

Macrophage development and activation involve coordinated intron retention in key inflammatory regulators

Immanuel D Green, Natalia Pinello, Renhua Song, +12

Nucleic Acids Research

Innate Immune SystemImmunologyImmune RegulationIntron RetentionInnate Immunity +18

Epigenetic Inactivation of a Cluster of Genes Flanking <i>MLH1</i> in Microsatellite-Unstable Colorectal Cancer

Megan P. Hitchins, Vita Ap Lin, Andrew Buckle, +11

Cancer Research

MGMT methylation is associated primarily with the germline C&gt;T SNP (rs16906252) in colorectal cancer and normal colonic mucosa

Nicholas J. Hawkins, James H-F Lee, Justin Wong, +3

Modern Pathology

OncologyT SnpMedicineGeneticsEpigenetic Change +9

RBM3 regulates temperature sensitive miR-142–5p and miR-143 (thermomiRs), which target immune genes and control fever

Justin Wong, Amy Au, Dadi Gao, +13

Nucleic Acids Research

Lynch Syndrome Associated with Two <i>MLH1</i> Promoter Variants and Allelic Imbalance of <i>MLH1</i> Expression

Luke B. Hesson, Deborah Packham, Chau‐To Kwok, +7

Human Mutation

GeneticsPathologyMolecular GeneticsConstitutional MutationGenomics +15

Mosaic Epigenetic Inheritance as a Cause of Early-Onset Colorectal Cancer

Mathew A. Sloane, Andrea C. Nunez, Deborah Packham, +4

JAMA Oncology

The MLH1 c.-27C&gt;A and c.85G&gt;T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype

Chau‐To Kwok, Ingrid P. Vogelaar, Wendy A. van Zelst-Stams, +10

European Journal of Human Genetics

Allelic VariantEuropean Ancestral HaplotypeGenetic DisorderGeneticsMlh1 Epimutation +7