@article{1ef6cdf0c8ba4e62892092b392a8df62,
title = "Genome-wide association study of familial lung cancer",
abstract = "To identify genetic variation associated with lung cancer risk, we performed a genome-wide association analysis of 685 lung cancer cases that had a family history of two or more first or second degree relatives compared with 744 controls without lung cancer that were genotyped on an Illumina Human OmniExpressExome-8v1 array. To ensure robust results, we further evaluated these findings using data from six additional studies that were assembled through the Transdisciplinary Research on Cancer of the Lung Consortium comprising 1993 familial cases and 33 690 controls. We performed a meta-analysis after imputation of all variants using the 1000 Genomes Project Phase 1 (version 3 release date September 2013). Analyses were conducted for 9 327 222 SNPs integrating data from the two sources. A novel variant on chromosome 4p15.31 near the LCORL gene and an imputed rare variant intergenic between CDKN2A and IFNA8 on chromosome 9p21.3 were identified at a genome-wide level of significance for squamous cell carcinomas. Additionally, associations of CHRNA3 and CHRNA5 on chromosome 15q25.1 in sporadic lung cancer were confirmed at a genome-wide level of significance in familial lung cancer. Previously identified variants in or near CHRNA2, BRCA2, CYP2A6 for overall lung cancer, TERT, SECISPB2L and RTEL1 for adenocarcinoma and RAD52 and MHC for squamous carcinoma were significantly associated with lung cancer.",
author = "Jinyoung Byun and Schwartz, {Ann G.} and Christine Lusk and Wenzlaff, {Angela S.} and {De Andrade}, Mariza and Diptasri Mandal and Colette Gaba and Ping Yang and Ming You and Kupert, {Elena Y.} and Anderson, {Marshall W.} and Younghun Han and Yafang Li and David Qian and Adrienne Stilp and Cathy Laurie and Sarah Nelson and Wenying Zheng and Hung, {Rayjean J.} and Valerie Gaborieau and James Mckay and Paul Brennan and Caporaso, {Neil E.} and Landi, {Maria Teresa} and Xifeng Wu and McLaughlin, {John R.} and Yonathan Brhane and Yohan Boss{\'e} and Pinney, {Susan M.} and Bailey-Wilson, {Joan E.} and Amos, {Christopher I.}",
note = "Funding Information: National Institute of Health (U01CA76293, U19CA148127, P30CA22453, HHSN26820100007C); The Intramural Research Program of the National Human Genome Research Institute; National Institute of Health (U19CA148127, CA148127S1) (to the Transdisciplinary Research for Cancer in Lung (TRICL)); Cancer Care Ontario Research Chair of Population Studies (to RH); Canadian Cancer Society Research Institute (no. 020214) (to the SLRI GWAS); Ontario Institute for Cancer Research (to RH); National Institute of Health (R01CA060691, R01CA87895) (to Detroit GELCC study). National Institute of Health -National Cancer Institute (CA77118, CA80127, CA84353) (to Mayo Clinic Lung Study); National Institute of Health (P30ES006096) (to Cincinnati study); Genotyping services for the GELCC study were provided by the Center for Inherited Disease Research (CIDR). CIDR is fully funded through a federal contract from the National Institutes of Health to The Johns Hopkins University, contract numbers HHSN268200782096C and HHSN268201100011. Publisher Copyright: {\textcopyright} The Author(s) 2018. Published by Oxford University Press. All rights reserved.",
year = "2018",
month = sep,
day = "21",
doi = "10.1093/carcin/bgy080",
language = "English (US)",
volume = "39",
pages = "1135--1140",
journal = "Carcinogenesis",
issn = "0143-3334",
publisher = "Oxford University Press",
number = "9",
}