Edward Chew
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View article: Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants Open
The role of germline CHEK2 variants in hematopoietic malignancies (HMs) is poorly understood. We examined pathogenic/likely pathogenic (P/LP) CHEK2 variants in patients with hereditary HMs (HHMs), a solid tumor risk cohort, public datasets…
View article: Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies
Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies Open
View article: Germline MBD4 deficiency causes a multi-tumor predisposition syndrome
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome Open
View article: Additional file 1 of Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies
Additional file 1 of Ganciclovir-induced mutations are present in a diverse spectrum of post-transplant malignancies Open
Additional file 1: Table S1. Clinical and mutational information of patients with GCVsig identified in this study and from our previous patients. Table S2. Patient and panel characteristics of GENIE and FM cohorts. Table S3. Concentrations…
View article: Germline loss-of-function variants in the base-excision repair gene<i>MBD4</i>cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia
Germline loss-of-function variants in the base-excision repair gene<i>MBD4</i>cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia Open
Inherited defects in base-excision repair (BER) predispose to adenomatous polyposis and colorectal cancer (CRC), yet our understanding of this important DNA repair pathway remains incomplete. By combining detailed clinical, histological an…
View article: Intact TP-53 function is essential for sustaining durable responses to BH3-mimetic drugs in leukemias
Intact TP-53 function is essential for sustaining durable responses to BH3-mimetic drugs in leukemias Open
Selective targeting of BCL-2 with the BH3-mimetic venetoclax has been a transformative treatment for patients with various leukemias. TP-53 controls apoptosis upstream of where BCL-2 and its prosurvival relatives, such as MCL-1, act. There…
View article: MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML
MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML Open
Key Points The DNA glycosylase MBD4 acts as a safeguard against damage from 5mC deamination. Germ line MBD4 deficiency stimulates clonal hematopoiesis and guides the development of leukemia via recurrent mutations in DNMT3A.
View article: Complexity of DNA Repair From Alcohol Damage Revealed
Complexity of DNA Repair From Alcohol Damage Revealed Open
View article: Germline loss of <i>MBD4</i> predisposes to leukaemia due to a mutagenic cascade driven by 5mC
Germline loss of <i>MBD4</i> predisposes to leukaemia due to a mutagenic cascade driven by 5mC Open
Cytosine methylation is essential for normal mammalian development, yet also provides a major mutagenic stimulus. Methylcytosine (5mC) is prone to spontaneous deamination, which introduces cytosine to thymine transition mutations (C>T) upo…