Change search
ReferencesLink to record
Permanent link

Direct link
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer
Show others and affiliations
2014 (English)In: Nature Genetics, ISSN 1061-4036, Vol. 46, no 7, 736-741 p.Article in journal (Refereed) Published
Abstract [en]

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 to lung 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.

Place, publisher, year, edition, pages
2014. Vol. 46, no 7, 736-741 p.
National Category
Cancer and Oncology
URN: urn:nbn:se:umu:diva-91271DOI: 10.1038/ng.3002ISI: 000338093800016OAI: diva2:735479
Available from: 2014-07-28 Created: 2014-07-28 Last updated: 2014-07-28Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full text

Search in DiVA

By author/editor
Johansson, Mikael
By organisation
In the same journal
Nature Genetics
Cancer and Oncology

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 73 hits
ReferencesLink to record
Permanent link

Direct link