4.7 Article

Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors

Related references

Note: Only part of the references are listed.
Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Genetics & Heredity

Role ofPOLEandPOLD1in familial cancer

Pilar Mur et al.

GENETICS IN MEDICINE (2020)

Article Biochemistry & Molecular Biology

POLE Mutation Spectra Are Shaped by the Mutant Allele Identity, Its Abundance, and Mismatch Repair Status

Karl P. Hodel et al.

MOLECULAR CELL (2020)

Article Multidisciplinary Sciences

HaTSPiL: A modular pipeline for high-throughput sequencing data analysis

Edoardo Morandi et al.

PLOS ONE (2019)

Article Multidisciplinary Sciences

Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair

N. J. Haradhvala et al.

NATURE COMMUNICATIONS (2018)

Article Oncology

The genetic landscape of breast carcinomas with neuroendocrine differentiation

Caterina Marchio et al.

JOURNAL OF PATHOLOGY (2017)

Article Oncology

Response to PD-1 Blockade in Microsatellite Stable Metastatic Colorectal Cancer Harboring a POLE. Mutation

Jun Gong et al.

JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK (2017)

Article Oncology

Gene expression markers of Tumor Infiltrating Leukocytes

Patrick Danaher et al.

JOURNAL FOR IMMUNOTHERAPY OF CANCER (2017)

Article Genetics & Heredity

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

Quan Li et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Review Biochemistry & Molecular Biology

Unrevealed mosaicism in the next-generation sequencing era

Marzena Gajecka

MOLECULAR GENETICS AND GENOMICS (2016)

Review Oncology

Multilocus Inherited Neoplasia Alleles Syndrome A Case Series and Review

James Whitworth et al.

JAMA ONCOLOGY (2016)

Article Multidisciplinary Sciences

A global reference for human genetic variation

David M. Altshuler et al.

NATURE (2015)

Article Medicine, General & Internal

Germline Mutations in Predisposition Genes in Pediatric Cancer

Jinghui Zhang et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

Article Cell Biology

Replicative DNA polymerase mutations in cancer

Ellen Heitzer et al.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2014)

Article Biotechnology & Applied Microbiology

Frequent POLE1 p.S297F mutation in Chinese patients with ovarian endometrioid carcinoma

Yang Zou et al.

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2014)

Article Biochemistry & Molecular Biology

DNA polymerase ? and exonuclease domain mutations in endometrial cancer

David N. Church et al.

HUMAN MOLECULAR GENETICS (2013)

Article Multidisciplinary Sciences

Signatures of mutational processes in human cancer

Ludmil B. Alexandrov et al.

NATURE (2013)

Article Biochemical Research Methods

Strelka: accurate somatic small-variant calling from sequenced tumor-normal sample pairs

Christopher T. Saunders et al.

BIOINFORMATICS (2012)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Multidisciplinary Sciences

Selective expansion of a subset of exhausted CD8 T cells by αPD-L1 blockade

Shawn D. Blackburn et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)