Ms Julia Como
Research Fellow in Colorectal Cancer Histol
Department of Clinical Pathology
35 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
Germline MLH1 c.-42 C > T is a likely pathogenic variant predisposing to a reduced-penetrance/modified Lynch syndrome phenotype featuring MLH1-methylated cancers
DOI: 10.1007/s10689-025-00519-y2025
Journal article
Abstract PR004: Mutational signature profiling identifies a distinct subgroup of early-onset colorectal cancer associated with younger age at diagnosis, recent birth year and specific genomic features
DOI: 10.1158/1557-3265.earlyonsetca25-pr0042025
Journal article
Abstract C020: Novel insights from the investigation of experimental mutational signatures in early-onset colorectal cancer and colonic polyps
DOI: 10.1158/1557-3265.earlyonsetca25-c0202025
Journal article
Abstract C014: Unexplained familial early-onset colorectal cancer: Determining a shared etiology by tumor mutational signature profiling
DOI: 10.1158/1557-3265.earlyonsetca25-c0142025
Journal article
Abstract C021: Characterizing the clinicopathological, genomic and spatial transcriptomic features of colibactin-induced colorectal cancers
DOI: 10.1158/1557-3265.earlyonsetca25-c0212025
Journal article
The germline POLD1 c.1420 C > A (p.Leu474Ile) variant segregates with endometrial cancer, colorectal cancer and colonic polyps demonstrating hypermutation and defective POLD1 mutational signatures
DOI: 10.1007/s10689-025-00506-32025
Journal article
DNA Mismatch Repair Gene Mosaicism Is Rare in People With Mismatch Repair-Deficient Cancers
DOI: 10.1053/j.gastro.2024.12.027
RECENT SCHOLARLY WORKS
2025
Journal article
Intratumoural pks Escherichia coli is associated with risk of metachronous colorectal cancer and adenoma development in people with Lynch syndrome
DOI: 10.1016/j.ebiom.2025.1056612025
Journal article
Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications
DOI: 10.1016/j.tranon.2024.1022662025
Journal article
Causes of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic MLH1 promoter methylation
DOI: 10.1007/s10689-025-00456-w