Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10292245" target="_blank" >RIV/00216208:11110/14:10292245 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00209805:_____/14:#0000560 RIV/61989592:15110/14:33150333

Výsledek na webu

<a href="http://dx.doi.org/10.1038/ng.3002" target="_blank" >http://dx.doi.org/10.1038/ng.3002</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/ng.3002" target="_blank" >10.1038/ng.3002</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

Popis výsledku v původním jazyce

We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and 38,295 controls for follow-up.We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 x 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 x 10(-13)). We also showed an association between common variation at 3q28 (TP63, rs13314271, OR = 1.13, P = 7.22 x 10(-10)) and lung adenocarcinoma that had been previously reported only in Asians. These findings provide further evidence for inherited genetic susceptibility tolung cancer and its biological basis. Additionally, our analysis demonstrates that imputation can identify rare disease-causing variants with substantive effects on cancer risk from preexisting genome-wide association study data.

Název v anglickém jazyce

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

Popis výsledku anglicky

We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and 38,295 controls for follow-up.We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 x 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 x 10(-13)). We also showed an association between common variation at 3q28 (TP63, rs13314271, OR = 1.13, P = 7.22 x 10(-10)) and lung adenocarcinoma that had been previously reported only in Asians. These findings provide further evidence for inherited genetic susceptibility tolung cancer and its biological basis. Additionally, our analysis demonstrates that imputation can identify rare disease-causing variants with substantive effects on cancer risk from preexisting genome-wide association study data.

Druh

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

CEP obor

FN - Epidemiologie, infekční nemoci a klinická imunologie

OECD FORD obor

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Projekt

<a href="/cs/project/ED2.1.00%2F03.0101" target="_blank" >ED2.1.00/03.0101: Regionální centrum aplikované molekulární onkologie (RECAMO)</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

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

Název periodika

Nature Genetics

ISSN

1061-4036

e-ISSN

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Svazek periodika

46

Číslo periodika v rámci svazku

7

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

6

Strana od-do

736-741

Kód UT WoS článku

000338093800016

EID výsledku v databázi Scopus

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