Protein-altering germline mutations implicate novel genes related to lung cancer development

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Ji, XuemeiDartmouth College (author)

Protein-altering germline mutations implicate novel genes related to lung cancer development

Article/chapterEnglish2020

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2020-05-11
Springer Science and Business Media LLC,2020
electronicrdacarrier

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LIBRIS-ID:oai:DiVA.org:umu-174634
https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-174634URI
https://doi.org/10.1038/s41467-020-15905-6DOI
https://lup.lub.lu.se/record/ed914309-9a0e-4d33-a474-3d89ae193fb6URI

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Language:English
Summary in:English

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Subject category:art swepub-publicationtype

Notes

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=1.18x10(-15)) and replication (adjusted OR=2.93, P=2.22x10(-3)) that is more pronounced in females (adjusted OR=6.81 and 3.19 and for discovery and replication). We observe an excess loss of heterozygosity in lung tumors among ATM L2307F allele carriers. L2307F is more frequent (4%) among Ashkenazi Jewish populations. We also observe an association in discovery (adjusted OR=2.61, P=7.98x10(-22)) and replication datasets (adjusted OR=1.55, P=0.06) with a loss-of-function mutation, Q4X (rs150665432) of an uncharacterized gene, KIAA0930. Our findings implicate germline genetic variants in ATM with lung cancer susceptibility and suggest KIAA0930 as a novel candidate gene for lung cancer risk. In lung cancer, relatively few germline mutations are known to impact risk. Here the authors looked at rare variants in 39,146 individuals and find novel germline mutations associated with risk, as well as implicating ATM and a new candidate gene for lung cancer risk.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Medicinsk genetik hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Medical Genetics hsv//eng
allele
cancer
gene expression
genetic analysis
health risk
heterozygosity
mutation
tumor

Added entries (persons, corporate bodies, meetings, titles ...)

Mukherjee, Semanti (author)
Landi, Maria Teresa (author)
Bosse, Yohan (author)
Joubert, Philippe (author)
Zhu, Dakai (author)
Gorlov, Ivan (author)
Xiao, Xiangjun (author)
Han, Younghun (author)
Gorlova, Olga (author)
Hung, Rayjean J. (author)
Brhane, Yonathan (author)
Carreras-Torres, Robert (author)
Christiani, David C. (author)
Caporaso, Neil (author)
Johansson, Mattias (author)
Liu, Geoffrey (author)
Bojesen, Stig E. (author)
Le Marchand, Loic (author)
Albanes, Demetrios (author)
Bickeboeller, Heike (author)
Aldrich, Melinda C. (author)
Bush, William S. (author)
Tardon, Adonina (author)
Rennert, Gad (author)
Chen, Chu (author)
Byun, Jinyoung (author)
Dragnev, Konstantin H. (author)
Field, John K. (author)
Kiemeney, Lambertus F. A. (author)
Lazarus, Philip (author)
Zienolddiny, Shan (author)
Lam, Stephen (author)
Schabath, Matthew B. (author)
Andrew, Angeline S. (author)
Bertazzi, Pier A. (author)
Pesatori, Angela C. (author)
Diao, Nancy (author)
Su, Li (author)
Song, Lei (author)
Zhang, Ruyang (author)
Leighl, Natasha (author)
Johansen, Jakob S. (author)
Mellemgaard, Anders (author)
Saliba, Walid (author)
Haiman, Christopher (author)
Wilkens, Lynne (author)
Fernandez-Somoano, Ana (author)
Fernandez-Tardon, Guillermo (author)
van der Heijden, Erik H. F. M. (author)
Kim, Jin Hee (author)
Davies, Michael P. A. (author)
Marcus, Michael W. (author)
Brunnström, HansLund University,Lunds universitet,Förbättrad diagnostik och prognostik vid lungcancer och metastaser till lunga,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Improved diagnostics and prognostics of lung cancer and metastases to the lungs,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments(Swepub:lu)med-hsb (author)
Manjer, JonasLund University,Lunds universitet,Kirurgi,Forskargrupper vid Lunds universitet,Surgery,Lund University Research Groups(Swepub:lu)smi-jma (author)
Melander, OlleLund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups(Swepub:lu)endo-ome (author)
Muller, David C. (author)
Overvad, KimLund University (author)
Trichopoulou, Antonia (author)
Tumino, Rosario (author)
Goodman, Gary E. (author)
Cox, Angela (author)
Taylor, Fiona (author)
Woll, Penella (author)
Wichmann, Erich (author)
Muley, Thomas (author)
Risch, Angela (author)
Rosenberger, Albert (author)
Grankvist, KjellUmeå universitet,Klinisk kemi(Swepub:umu)kjgr0002 (author)
Johansson, MikaelUmeå universitet,Onkologi(Swepub:umu)mijo0025 (author)
Tsao, Ming-Sound (author)
Shepherd, Frances (author)
Arnold, Susanne M. (author)
Haura, Eric B. (author)
Bolca, Ciprian (author)
Holcatova, Ivana (author)
Janout, Vladimir (author)
Kontic, Milica (author)
Lissowska, Jolanta (author)
Mukeria, Anush (author)
Ognjanovic, Simona (author)
Orlowski, Tadeusz M. (author)
Scelo, Ghislaine (author)
Swiatkowska, Beata (author)
Zaridze, David (author)
Bakke, Per (author)
Skaug, Vidar (author)
Butler, Lesley M. (author)
Offit, Kenneth (author)
Srinivasan, Preethi (author)
Bandlamudi, Chaitanya (author)
Hellmann, Matthew D. (author)
Solit, David B. (author)
Robson, Mark E. (author)
Rudin, Charles M. (author)
Stadler, Zsofia K. (author)
Taylor, Barry S. (author)
Berger, Michael F. (author)
Houlston, Richard (author)
McLaughlin, John (author)
Stevens, Victoria (author)
Nickle, David C. (author)
Obeidat, 'en (author)
Timens, Wim (author)
Artigas, Maria Soler (author)
Shete, Sanjay (author)
Brenner, Hermann (author)
Chanock, Stephen (author)
Brennan, Paul (author)
McKay, James D. (author)
Amos, Christopher, IBaylor College of Medicine (author)
Dartmouth CollegeFörbättrad diagnostik och prognostik vid lungcancer och metastaser till lunga (creator_code:org_t)
et al.

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In:Nature Communications: Springer Science and Business Media LLC11:12041-1723

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By the author/editor: Ji, Xuemei; Mukherjee, Seman ...; Landi, Maria Ter ...; Bosse, Yohan; Joubert, Philipp ...; Zhu, Dakai; show more...; Gorlov, Ivan; Xiao, Xiangjun; Han, Younghun; Gorlova, Olga; Hung, Rayjean J.; Brhane, Yonathan; Carreras-Torres, ...; Christiani, Davi ...; Caporaso, Neil; Johansson, Matti ...; Liu, Geoffrey; Bojesen, Stig E.; Le Marchand, Loi ...; Albanes, Demetri ...; Bickeboeller, He ...; Aldrich, Melinda ...; Bush, William S.; Tardon, Adonina; Rennert, Gad; Chen, Chu; Byun, Jinyoung; Dragnev, Konstan ...; Field, John K.; Kiemeney, Lamber ...; Lazarus, Philip; Zienolddiny, Sha ...; Lam, Stephen; Schabath, Matthe ...; Andrew, Angeline ...; Bertazzi, Pier A ...; Pesatori, Angela ...; Diao, Nancy; Su, Li; Song, Lei; Zhang, Ruyang; Leighl, Natasha; Johansen, Jakob ...; Mellemgaard, And ...; Saliba, Walid; Haiman, Christop ...; Wilkens, Lynne; Fernandez-Somoan ...; Fernandez-Tardon ...; van der Heijden, ...; Kim, Jin Hee; Davies, Michael ...; Marcus, Michael ...; Brunnström, Hans; Manjer, Jonas; Melander, Olle; Muller, David C.; Overvad, Kim; Trichopoulou, An ...; Tumino, Rosario; Goodman, Gary E.; Cox, Angela; Taylor, Fiona; Woll, Penella; Wichmann, Erich; Muley, Thomas; Risch, Angela; Rosenberger, Alb ...; Grankvist, Kjell; Johansson, Mikae ...; Tsao, Ming-Sound; Shepherd, France ...; Arnold, Susanne ...; Haura, Eric B.; Bolca, Ciprian; Holcatova, Ivana; Janout, Vladimir; Kontic, Milica; Lissowska, Jolan ...; Mukeria, Anush; Ognjanovic, Simo ...; Orlowski, Tadeus ...; Scelo, Ghislaine; Swiatkowska, Bea ...; Zaridze, David; Bakke, Per; Skaug, Vidar; Butler, Lesley M ...; Offit, Kenneth; Srinivasan, Pree ...; Bandlamudi, Chai ...; Hellmann, Matthe ...; Solit, David B.; Robson, Mark E.; Rudin, Charles M ...; Stadler, Zsofia ...; Taylor, Barry S.; Berger, Michael ...; Houlston, Richar ...; McLaughlin, John; Stevens, Victori ...; Nickle, David C.; Obeidat, 'en; Timens, Wim; Artigas, Maria S ...; Shete, Sanjay; Brenner, Hermann; Chanock, Stephen; Brennan, Paul; McKay, James D.; Amos, Christophe ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

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