First description of ultramutated endometrial cancer caused by germline loss-of-function and somatic exonuclease domain mutations in POLE gene
Author:
Affiliation:
1. Universidade de São Paulo, Brazil
2. Université Paris Saclay, France
3. Paris-Sud University, France
4. Universidade de São Paulo, Brazil; Universidade de São Paulo, Brazil
Publisher
FapUNIFESP (SciELO)
Subject
Genetics,Molecular Biology
Link
http://www.scielo.br/pdf/gmb/v43n4/1415-4757-GMB-43-4-e20200100.pdf
Reference28 articles.
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2. Implementing tumor mutational burden (TMB) analysis in routine diagnostics-a primer for molecular pathologists and clinicians;Allgäuer M;Transl Lung Cancer Res,2018
3. Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumors;Andrianova MA;J Pathol,2017
4. Replicative DNA polymerase defects in human cancers: Consequences, mechanisms, and implications for therapy;Barbari SR;DNA Repair (Amst),2017
5. Functional analysis of cancer-associated DNA polymerase ε variants in Saccharomyces cerevisiae.;Barbari SR;G3 (Bethesda),2018
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