Early‐onset colorectal cancer in young individuals

G Mauri, A Sartore‐Bianchi, AG Russo… - Molecular …, 2019 - Wiley Online Library
Treatment of young adults with colorectal cancer (CRC) represents an unmet clinical need,
especially as diagnosis in this population might lead to the greatest loss of years of life …

[HTML][HTML] POLE/POLD1 mutation and tumor immunotherapy

X Ma, L Dong, X Liu, K Ou, L Yang - Journal of Experimental & Clinical …, 2022 - Springer
POLE and POLD1 encode the catalytic and proofreading subunits of DNA polymerase ε and
polymerase δ, and play important roles in DNA replication and proofreading. POLE/POLD1 …

Interpretation of somatic POLE mutations in endometrial carcinoma

A León‐Castillo, H Britton… - The Journal of …, 2020 - Wiley Online Library
Pathogenic somatic missense mutations within the DNA polymerase epsilon (POLE)
exonuclease domain define the important subtype of ultramutated tumours ('POLE …

ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes

S Syngal, RE Brand, JM Church… - Official journal of the …, 2015 - journals.lww.com
This guideline presents recommendations for the management of patients with hereditary
gastrointestinal cancer syndromes. The initial assessment is the collection of a family history …

A panoply of errors: polymerase proofreading domain mutations in cancer

E Rayner, IC Van Gool, C Palles, SE Kearsey… - Nature Reviews …, 2016 - nature.com
Although it has long been recognized that the exonucleolytic proofreading activity intrinsic to
the replicative DNA polymerases Pol δ and Pol ε is essential for faithful replication of DNA …

Hypermutation in human cancer genomes: footprints and mechanisms

SA Roberts, DA Gordenin - Nature Reviews Cancer, 2014 - nature.com
A role for somatic mutations in carcinogenesis is well accepted, but the degree to which
mutation rates influence cancer initiation and development is under continuous debate …

[HTML][HTML] Role of POLE and POLD1 in familial cancer

P Mur, S García-Mulero, J Del Valle… - Genetics in …, 2020 - Elsevier
Purpose Germline pathogenic variants in the exonuclease domain (ED) of polymerases
POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC) …

[HTML][HTML] Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis

R Adam, I Spier, B Zhao, M Kloth, J Marquez… - The American Journal of …, 2016 - cell.com
In∼ 30% of families affected by colorectal adenomatous polyposis, no germline mutations
have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and …

[HTML][HTML] Update on genetic predisposition to colorectal cancer and polyposis

L Valle, RM de Voer, Y Goldberg, W Sjursen… - Molecular aspects of …, 2019 - Elsevier
The present article summarizes recent developments in the characterization of genetic
predisposition to colorectal cancer (CRC). The main themes covered include new hereditary …

[HTML][HTML] POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing …

F Bellido, M Pineda, G Aiza, R Valdés-Mas… - Genetics in …, 2016 - nature.com
Purpose: Germ-line mutations in the exonuclease domains of POLE and POLD1 have been
recently associated with polyposis and colorectal cancer (CRC) predisposition. Here, we …