Protein-altering germline mutations implicate novel genes related to lung cancer development.
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ABSTRACT:
SUBMITTER: Ji X
PROVIDER: S-EPMC7214407 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Publications
Protein-altering germline mutations implicate novel genes related to lung cancer development.
Ji Xuemei X Mukherjee Semanti S Landi Maria Teresa MT Bosse Yohan Y Joubert Philippe P Zhu Dakai D Gorlov Ivan I Xiao Xiangjun X Han Younghun Y Gorlova Olga O Hung Rayjean J RJ Brhane Yonathan Y Carreras-Torres Robert R Christiani David C DC Caporaso Neil N Johansson Mattias M Liu Geoffrey G Bojesen Stig E SE Le Marchand Loic L Albanes Demetrios D Bickeböller Heike H Aldrich Melinda C MC Bush William S WS Tardon Adonina A Rennert Gad G Chen Chu C Byun Jinyoung J Dragnev Konstantin H KH Field John K JK Kiemeney Lambertus Fa LF Lazarus Philip P Zienolddiny Shan S Lam Stephen S Schabath Matthew B MB Andrew Angeline S AS Bertazzi Pier A PA Pesatori Angela C AC Diao Nancy N Su Li L Song Lei L Zhang Ruyang R Leighl Natasha N Johansen Jakob S JS Mellemgaard Anders A Saliba Walid W Haiman Christopher C Wilkens Lynne L Fernandez-Somoano Ana A Fernandez-Tardon Guillermo G Heijden Erik H F M van der EHFMV Kim Jin Hee JH Davies Michael P A MPA Marcus Michael W MW Brunnström Hans H Manjer Jonas J Melander Olle O Muller David C DC Overvad Kim K Trichopoulou Antonia A Tumino Rosario R Goodman Gary E GE Cox Angela A Taylor Fiona F Woll Penella P Wichmann Erich E Muley Thomas T Risch Angela A Rosenberger Albert A Grankvist Kjell K Johansson Mikael M Shepherd Frances F Tsao Ming-Sound MS Arnold Susanne M SM Haura Eric B EB Bolca Ciprian C Holcatova Ivana I Janout Vladimir V Kontic Milica M Lissowska Jolanta J Mukeria Anush A Ognjanovic Simona S Orlowski Tadeusz M TM Scelo Ghislaine G Swiatkowska Beata B Zaridze David D Bakke Per P Skaug Vidar V Butler Lesley M LM Offit Kenneth K Srinivasan Preethi P Bandlamudi Chaitanya C Hellmann Matthew D MD Solit David B DB Robson Mark E ME Rudin Charles M CM Stadler Zsofia K ZK Taylor Barry S BS Berger Michael F MF Houlston Richard R McLaughlin John J Stevens Victoria V Nickle David C DC Obeidat Ma'en M Timens Wim W Artigas María Soler MS Shete Sanjay S Brenner Hermann H Chanock Stephen S Brennan Paul P McKay James D JD Amos Christopher I CI
Nature communications 20200511 1
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<sup>-15</sup>) and replication (adjusted OR = 2.93, P = 2.22 × 10<sup>-3</sup>) that is more pronounced in females (adjusted OR = 6.81 and 3.19 an ...[more]
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