NDLI: Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing

Content Provider	Springer Nature Link
Author	Rohlin, Anna Rambech, Eva Kvist, Anders Törngren, Therese Eiengård, Frida Lundstam, Ulf Zagoras, Theofanis Gebre Medhin, Samuel Borg, Åke Björk, Jan Nilbert, Mef rdling, Margareta
Copyright Year	2016
Abstract	Hereditary syndromes causing colorectal cancer include both polyposis and non-polyposis syndromes. Overlapping phenotypes between the syndromes have been recognized and this make targeted molecular testing for single genes less favorable, instead there is a gaining interest for multi-gene panel-based approaches detecting both SNVs, indels and CNVs in the same assay. We applied a panel including 19 CRC susceptibility genes to 91 individuals of six phenotypic subgroups. Targeted NGS-based sequencing of the whole gene regions including introns of the 19 genes was used. The individuals had a family history of CRC or had a phenotype consistent with a known CRC syndrome. The purpose of the study was to demonstrate the diagnostic difficulties linked to genotype-phenotype diversity and the benefits of using a gene panel. Pathogenicity classification was carried out on 46 detected variants. In total we detected sixteen pathogenic or likely pathogenic variants and 30 variants of unknown clinical significance. Four of the pathogenic or likely pathogenic variants were found in BMPR1A in patients with unexplained familial adenomatous polyposis or atypical adenomatous polyposis, which extends the genotype-phenotype spectrum for this gene. Nine patients had more than one variant remaining after the filtration, including three with truncating mutations in BMPR1A, PMS2 and AXIN2. CNVs were found in three patients, in upstream regions of SMAD4, MSH3 and CTNNB1, and one additional individual harbored a 24.2 kb duplication in CDH1 intron1.
Starting Page	195
Ending Page	203
Page Count	9
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	16
Issue Number	2
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2016-09-30
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Colorectal cancer FAP Familial adenomatous polyposis Gene panel Hereditary Lynch syndrome Cancer Research Human Genetics Epidemiology Biomedicine
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing

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