Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers

Frequency and phenotypic spectrum of germline mutations inPOLEand seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

(2015) Isabel Spier et al.   INTERNATIONAL JOURNAL OF CANCER

Polymerase ɛ (POLE) mutations in endometrial cancer: Clinical outcomes and implications for Lynch syndrome testing

(2014) Caroline C. Billingsley et al.   CANCER

Replicative DNA polymerase mutations in cancer

(2014) Ellen Heitzer et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer

(2014) Fadwa A Elsayed et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Colon and Endometrial Cancers With Mismatch Repair Deficiency Can Arise From Somatic, Rather Than Germline, Mutations

(2014) Sigurdis Haraldsdottir et al.   GASTROENTEROLOGY

Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication

(2014) Eve Shinbrot et al.   GENOME RESEARCH

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

(2014) Laura Valle et al.   HUMAN MOLECULAR GENETICS

Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers

(2014) Willemina RR Geurts-Giele et al.   JOURNAL OF PATHOLOGY

Mechanisms underlying mutational signatures in human cancers

(2014) Thomas Helleday et al.   NATURE REVIEWS GENETICS

Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors

(2013) Arjen R. Mensenkamp et al.   GASTROENTEROLOGY

DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer

(2013) David N. Church et al.   HUMAN MOLECULAR GENETICS

Germline and somatic polymerase ϵ and δ mutations define a new class of hypermutated colorectal and endometrial cancers

(2013) Sarah Briggs et al.   JOURNAL OF PATHOLOGY

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

(2012) Claire Palles et al.   NATURE GENETICS

Concurrent genetic alterations in DNA polymerase proofreading and mismatch repair in human colorectal cancer

(2010) Rintaro Yoshida et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH