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

When Overgrowth Bumps Into Cancer: The PTEN-Opathies

(2013) JESSICA MESTER et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Clinical Subtypes and Molecular Characteristics of Serrated Polyposis Syndrome

(2013) Carla Guarinos et al.   Clinical Gastroenterology and Hepatology

DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer

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

Exome Resequencing Identifies Potential Tumor-Suppressor Genes that Predispose to Colorectal Cancer

(2013) Christopher G. Smith et al.   HUMAN MUTATION

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

New classification for endometrial cancer puts genes in POLE position

(2013) Rebecca Kirk   Nature Reviews Clinical Oncology

MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes

(2012) Lawrence A Donehower et al.   JOURNAL OF PATHOLOGY

Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1

(2012) Emma Jaeger et al.   NATURE GENETICS

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

(2012) Claire Palles et al.   NATURE GENETICS

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Peutz-Jeghers syndrome: a systematic review and recommendations for management

(2010) A. D. Beggs et al.   GUT

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

(2009) HT Lynch et al.   CLINICAL GENETICS