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

Result code in 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>

Alternative codes found

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

Result on the web

<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>

Result language

angličtina

Original language name

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

Original language description

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.

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

FN - Epidemiology, infection diseases and clinical immunology

OECD FORD branch

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Project

<a href="/en/project/ED2.1.00%2F03.0101" target="_blank" >ED2.1.00/03.0101: Regional Centre for Applied Molecular Oncology (RECAMO)</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

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

Name of the periodical

Nature Genetics

ISSN

1061-4036

e-ISSN

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Volume of the periodical

46

Issue of the periodical within the volume

7

Country of publishing house

US - UNITED STATES

Number of pages

6

Pages from-to

736-741

UT code for WoS article

000338093800016

EID of the result in the Scopus database

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