Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10294729" target="_blank" >RIV/00216208:11110/15:10294729 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1038/gim.2014.89" target="_blank" >http://dx.doi.org/10.1038/gim.2014.89</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/gim.2014.89" target="_blank" >10.1038/gim.2014.89</a>

Result language

angličtina

Original language name

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

Original language description

Purpose: Colorectal cancer is an important cause of mortality in the developed world. Hereditary forms are due to germ-line mutations in APC, MUTYH, and the mismatch repair genes, but many cases present familial aggregation but an unknown inherited cause. The hypothesis of rare high-penetrance mutations in new genes is a likely explanation for the underlying predisposition in some of these familial cases. Methods: Exome sequencing was performed in 43 patients with colorectal cancer from 29 families withstrong disease aggregation without mutations in known hereditary colorectal cancer genes. Data analysis selected only very rare variants (0-0.1%), producing a putative loss of function and located in genes with a role compatible with cancer. Variants ingenes previously involved in hereditary colorectal cancer or nearby previous colorectal cancer genome-wide association study hits were also chosen. Results: Twenty-eight final candidate variants were selected and validated by Sanger sequ

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2015

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Genetics in Medicine

ISSN

1098-3600

e-ISSN

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Volume of the periodical

17

Issue of the periodical within the volume

2

Country of publishing house

US - UNITED STATES

Number of pages

12

Pages from-to

131-142

UT code for WoS article

000348962600006

EID of the result in the Scopus database

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