Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
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Title
Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
Authors
Keywords
Colorectal cancer, FAP, Familial adenomatous polyposis, Gene panel, Hereditary, Colorectal cancer, Lynch syndrome
Journal
Familial Cancer
Volume 16, Issue 2, Pages 195-203
Publisher
Springer Nature
Online
2016-09-30
DOI
10.1007/s10689-016-9934-0
References
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Note: Only part of the references are listed.- Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
- (2016) Ronja Adam et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Hereditary non-polyposis colorectal cancer/Lynch syndrome in three dimensions
- (2016) Sara E. Kravochuck et al. ANZ JOURNAL OF SURGERY
- Improving performance of multigene panels for genomic analysis of cancer predisposition
- (2016) Brian H. Shirts et al. GENETICS IN MEDICINE
- Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer
- (2016) Daniel Chubb et al. Nature Communications
- The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery
- (2016) M. M. Hahn et al. CELLULAR ONCOLOGY
- GREM1and POLE variants in hereditary colorectal cancer syndromes
- (2015) Anna Rohlin et al. GENES CHROMOSOMES & CANCER
- Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
- (2015) Lisa R. Susswein et al. GENETICS IN MEDICINE
- Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis
- (2015) Carlos J. Gallego et al. JOURNAL OF CLINICAL ONCOLOGY
- A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
- (2015) Robbert D A Weren et al. NATURE GENETICS
- Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families
- (2015) Yiing Lin et al. Genome Medicine
- A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia
- (2015) Haochen Liu et al. PLoS One
- Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia
- (2014) Singwai Wong et al. ARCHIVES OF ORAL BIOLOGY
- APC promoter 1B deletion in seven American families with familial adenomatous polyposis
- (2014) A.K. Snow et al. CLINICAL GENETICS
- Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory
- (2014) D. Cragun et al. CLINICAL GENETICS
- Hereditary and Common Familial Colorectal Cancer: Evidence for Colorectal Screening
- (2014) N. Jewel Samadder et al. DIGESTIVE DISEASES AND SCIENCES
- Exome Sequencing in Familial Colorectal Cancer: Searching for Needles in Haystacks
- (2014) Elena M. Stoffel et al. GASTROENTEROLOGY
- Promoter-specific alterations ofAPCare a rare cause for mutation-negative familial adenomatous polyposis
- (2014) Walter Pavicic et al. GENES CHROMOSOMES & CANCER
- New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis
- (2014) Laura Valle et al. HUMAN MOLECULAR GENETICS
- The UMD-APC Database, a Model of Nation-Wide Knowledge Base: Update with Data from 3,581 Variations
- (2014) Philippe Grandval et al. HUMAN MUTATION
- Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations
- (2014) Cornelia Kraus et al. INTERNATIONAL JOURNAL OF CANCER
- The Evolution of Cancer Risk Assessment in the Era of Next Generation Sequencing
- (2014) Heather Fecteau et al. Journal of Genetic Counseling
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Genetic predisposition to colorectal cancer: Where we stand and future perspectives
- (2014) Laura Valle WORLD JOURNAL OF GASTROENTEROLOGY
- The growing complexity of the intestinal polyposis syndromes
- (2013) Emanuela Lucci-Cordisco et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
- (2013) Peter D. Stenson et al. HUMAN GENETICS
- Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- (2013) Bryony A Thompson et al. NATURE GENETICS
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- The CHEK2 I157T Variant and Colorectal Cancer Susceptibility: A Systematic Review and Meta-analysis
- (2012) Chuan Liu et al. Asian Pacific Journal of Cancer Prevention
- BMPR1Amutations in early-onset colorectal cancer with mismatch repair proficiency
- (2012) C Fernandez-Rozadilla et al. CLINICAL GENETICS
- 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
- Reply to "The classification of intestinal polyposis"
- (2012) Ian Tomlinson et al. NATURE GENETICS
- Activating mutation in MET oncogene in familial colorectal cancer
- (2011) Deborah W Neklason et al. BMC CANCER
- Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility
- (2011) He-ping Xiang et al. EUROPEAN JOURNAL OF CANCER
- BMPR1A Mutations in Hereditary Nonpolyposis Colorectal Cancer Without Mismatch Repair Deficiency
- (2011) Taina T. Nieminen et al. GASTROENTEROLOGY
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis
- (2011) A Rohlin et al. ONCOGENE
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Germline Bone Morphogenesis Protein Receptor 1A Mutation Causes Colorectal Tumorigenesis in Hereditary Mixed Polyposis Syndrome
- (2009) Peh Yean Cheah et al. AMERICAN JOURNAL OF GASTROENTEROLOGY
- Hereditary mixed polyposis syndrome due to a BMPR1A mutation
- (2009) J. M. O’Riordan et al. Colorectal Disease
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families
- (2008) Gunilla Kanter-Smoler et al. BMC Medicine
- The first functional study of MLH3 mutations found in cancer patients
- (2008) Mari K. Korhonen et al. GENES CHROMOSOMES & CANCER
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