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

Artikel i vetenskaplig tidskrift
Författare Anna Rohlin
Eva Rambech
Anders Kvist
Therese Törngren
Frida Eiengård
Ulf Lundstam
Theofanis Zagoras
Åke Borg
Jan Björk
Margareta Nordling
Publicerad i Familial cancer
Volym 16
Nummer/häfte 2
Sidor 195–203
ISSN 1573-7292
Publiceringsår 2017
Publicerad vid Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik
Institutionen för kliniska vetenskaper, Avdelningen för kirurgi
Sidor 195–203
Språk en
Länkar dx.doi.org/10.1007/s10689-016-9934-...
www.ncbi.nlm.nih.gov/entrez/query.f...
Ämneskategorier Cancer och onkologi

Sammanfattning

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.

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