Protein-altering germline mutations implicate novel genes related to lung cancer development.
Adenocarcinoma
/ genetics
Aged
Alleles
Ataxia Telangiectasia Mutated Proteins
/ genetics
Databases, Genetic
Female
Genetic Predisposition to Disease
Genotyping Techniques
Germ-Line Mutation
Heterozygote
Humans
Jews
/ genetics
Lung Neoplasms
/ genetics
Male
Middle Aged
Mutation, Missense
Odds Ratio
Oligonucleotide Array Sequence Analysis
Pedigree
RNA-Seq
Risk Factors
White People
/ genetics
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
11 05 2020
11 05 2020
Historique:
received:
12
07
2019
accepted:
25
03
2020
entrez:
13
5
2020
pubmed:
13
5
2020
medline:
15
8
2020
Statut:
epublish
Résumé
Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect association with an ATM L2307F (rs56009889) mutation in adenocarcinoma for discovery (adjusted Odds Ratio = 8.82, P = 1.18 × 10
Identifiants
pubmed: 32393777
doi: 10.1038/s41467-020-15905-6
pii: 10.1038/s41467-020-15905-6
pmc: PMC7214407
doi:
Substances chimiques
ATM protein, human
EC 2.7.11.1
Ataxia Telangiectasia Mutated Proteins
EC 2.7.11.1
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
2220Subventions
Organisme : Cancer Research UK
ID : 24390
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : P50 CA119997
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA063464
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA209414
Pays : United States
Organisme : Wellcome Trust
ID : 202849/Z/16/Z
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : R01 CA111703
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR000117
Pays : United States
Organisme : Wellcome Trust
ID : WT202849/Z/16/Z
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : P20 CA090578
Pays : United States
Organisme : NCI NIH HHS
ID : U19 CA148127
Pays : United States
Organisme : NIGMS NIH HHS
ID : P20 GM103534
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR000445
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA092824
Pays : United States
Organisme : NCI NIH HHS
ID : R35 CA197449
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA016672
Pays : United States
Organisme : NCI NIH HHS
ID : UM1 CA164973
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA167462
Pays : United States
Organisme : NCI NIH HHS
ID : U19 CA203654
Pays : United States
Organisme : NCRR NIH HHS
ID : P20 RR018787
Pays : United States
Organisme : Department of Health
Pays : United Kingdom
Organisme : NCRR NIH HHS
ID : S10 RR025141
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA074386
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA176568
Pays : United States
Organisme : NCI NIH HHS
ID : K07 CA172294
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA023108
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA076292
Pays : United States
Organisme : NLM NIH HHS
ID : R56 LM012371
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA063464
Pays : United States
Organisme : NCI NIH HHS
ID : P01 CA033619
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA177558
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA090578
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA070907
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA033572
Pays : United States
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NHGRI NIH HHS
ID : U01 HG004798
Pays : United States
Organisme : Medical Research Council
ID : G0902313
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : R01 CA151989
Pays : United States
Organisme : NCI NIH HHS
ID : UM1 CA167462
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA071789
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA164973
Pays : United States
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