Literature DB >> 23454724

Colorectal cancer in a 9-year-old due to combined EPCAM and MSH2 germline mutations: case report of a unique genotype and immunophenotype.

Hector H Li-Chang, David K Driman, Helen Levin, Victoria M Siu, Nancy L Scanlan, Kathleen Buckley, A Elizabeth Cairney, Peter J Ainsworth.   

Abstract

Entities:  

Keywords:  Cancer Genetics; Carcinoma; Colorectal Cancer; Gi Neoplasms; Paediatric Pathology

Mesh：

Substances：

Year:  2013        PMID： 23454724     DOI： 10.1136/jclinpath-2012-201376

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN： 0021-9746            Impact factor:   3.411


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  3 in total

Review 1.  Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors:  David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2013-07-03       Impact factor: 4.132

Review 2.  Colorectal carcinoma in the first decade of life: a systematic review.

Authors:  René Aloisio da Costa Vieira; Maiara Silva Tramonte; Luiz Fernando Lopes
Journal:  Int J Colorectal Dis       Date:  2015-04-28       Impact factor: 2.571

3.  EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.

Authors:  Sagar J Pathak; James L Mueller; Kevin Okamoto; Barun Das; Jozef Hertecant; Lynn Greenhalgh; Trevor Cole; Vered Pinsk; Baruch Yerushalmi; Odul E Gurkan; Michael Yourshaw; Erick Hernandez; Sandy Oesterreicher; Sandhia Naik; Ian R Sanderson; Irene Axelsson; Daniel Agardh; C Richard Boland; Martin G Martin; Christopher D Putnam; Mamata Sivagnanam
Journal:  Hum Mutat       Date:  2018-11-29       Impact factor: 4.878
  3 in total

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