Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

被引：0

作者：

Pilar Mur

Julen Viana-Errasti

Sandra García-Mulero

Lorena Magraner-Pardo

Inés G. Muñoz

Tirso Pons

Gabriel Capellá

Marta Pineda

Lidia Feliubadaló

Laura Valle

机构：

[1] Catalan Institute of Oncology,Hereditary Cancer Program

[2] IDIBELL,Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell)

[3] IDIBELL,Department of Health of Catalonia

[4] Centro de Investigación Biomédica en Red de Cáncer (CIBERONC),Unit of Biomarkers and Susceptibility, Oncology Data Analytics Program (ODAP)

[5] Catalan Cancer Plan,The CRUK Gene Function Laboratory and The Breast Cancer Now Toby Robins Research Centre

[6] Catalan Institute of Oncology,Protein Crystallography Unit, Structural Biology Program

[7] The Institute of Cancer Research (ICR),Department of Immunology and Oncology

[8] Spanish National Cancer Research Center (CNIO),undefined

[9] National Center for Biotechnology (CNB-CSIC),undefined

[10] Spanish National Research Council,undefined

来源：

Genome Medicine | / 15卷

关键词：

Polymerase proofreading-associated polyposis; PPAP; Polymerase epsilon; Polymerase delta; Proofreading deficiency; Mutational signatures; Variant classification; Hereditary cancer;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

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[44] Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1
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[50] Immune checkpoint inhibitors for POLE or POLD1 proofreading-deficient metastatic colorectal cancer
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