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

Kód výsledku v 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>

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2015

Kód důvěrnosti údajů

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

Název periodika

Genetics in Medicine

ISSN

1098-3600

e-ISSN

—

Svazek periodika

17

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

12

Strana od-do

131-142

Kód UT WoS článku

000348962600006

EID výsledku v databázi Scopus

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