Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

POLD1 DEDD Motif Mutation Confers Hypermutation in Endometrial Cancer and Durable Response to Pembrolizumab

30 Nov 2023

Abstract excerpt

Background: Mutations in the DNA polymerase delta 1 (POLD1) exonuclease domain cause DNA proofreading defects, hypermutation, hereditary colorectal and endometrial cancer, and are predictive of immunotherapy response. Exonuclease activity is carried out by two magnesium cations, bound to four highly conserved, negatively charged amino acids (AA) consisting of aspartic acid at amino acid position 316 (p.D316),...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cancer Cells and Metastasis
Share to DNA Repair Mechanisms
Share to Genetic factors in colorectal cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38067377
DOI: 10.3390/cancers15235674

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

POLD1 DEDD Motif Mutation Confers Hypermutation in Endometrial Cancer and Durable Response to PembrolizumabPMID 38067377Read ↗

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.Semantic proximity Read ↗

POLE/POLD1 mutation in non‐exonuclease domain matters for predicting efficacy of immune‐checkpoint‐inhibitor therapySemantic proximity Read ↗

Comparative Analysis of Somatic and Germline Polymerase Proofreading Deficiencies in Cancer: Molecular and Clinical ImplicationsSemantic proximity Read ↗

Beyond proofreading: POLD1 mutations as dynamic orchestrators of genomic instability and immune evasion in cancerSemantic proximity Read ↗

Characterization of hotspot exonuclease domain mutations in the DNA polymerase ϵ gene in endometrial cancerSemantic proximity Read ↗

A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndrome.Semantic proximity Read ↗

Prospects of POLD1 in Human Cancers: A ReviewSemantic proximity Read ↗

Immune checkpoint inhibitors in POLE/POLD1 proofreading-deficient CRC: from molecular basis to clinical practice and future directions.Semantic proximity Read ↗

The game-changing impact of POLE mutations in oncology—a review from a gynecologic oncology perspectiveSemantic proximity Read ↗

Distinctive genomic characteristics in POLE/POLD1-mutant cancers can potentially predict beneficial clinical outcomes in patients who receive immune checkpoint inhibitorSemantic proximity Read ↗

Comprehensive characterization of DNA polymerases driver variants using large genomic datasetSemantic proximity Read ↗

A novel somatic mutation in POLE exonuclease domain associated with ultra-mutational signature and MMR deficiency in endometrial cancer: a case reportSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.