The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous
Cell Cancers of Upper Aerodigestive Tract

J 2015

The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract

DELAHAYE-SOURDEIX, Manon, Chavier OLIVER, Maria N. TIMOFEEVA, Valérie GABORIEAU, Mattias JOHANSSON et. al.

Základní údaje

Originální název

The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract

Autoři

DELAHAYE-SOURDEIX, Manon (250 Francie), Chavier OLIVER (250 Francie), Maria N. TIMOFEEVA (250 Francie), Valérie GABORIEAU (250 Francie), Mattias JOHANSSON (250 Francie), Amélie CHABRIER (250 Francie), Magdalena B. WOZNIAK (250 Francie), Darren R. BRENNER (250 Francie), Maxime P. VALLÉE (250 Francie), Devasena ANANTHARAMAN (250 Francie), Pagona LAGIOU (300 Řecko), Ivana HOLCÁTOVÁ (203 Česká republika), Lorenzo RICHIARDI (380 Itálie), Kristina KJAERHEIM (578 Norsko), Antonio AGUDO (724 Španělsko), Xavier CASTELLSAGUÉ (724 Španělsko), Tatiana V. MACFARLANE (826 Velká Británie a Severní Irsko), Luigi BARZAN (380 Itálie), Cristina CANOVA (380 Itálie), Nalin S. THAKKER (826 Velká Británie a Severní Irsko), David I. CONWAY (826 Velká Británie a Severní Irsko), Ariana ZNAOR (191 Chorvatsko), Claire M. HEALY (372 Irsko), Wolfgang AHRENS (276 Německo), David ZARIDZE (276 Německo), Neonilia SZESZENIA-DABROWSKA (643 Rusko), Jolanta LISSOWSKA (616 Polsko), Eleonora FABIANOVA (703 Slovensko), Ioan Nicolae MATES (642 Rumunsko), Vladimir BENCKO (203 Česká republika), Lenka FORETOVÁ (203 Česká republika, garant, domácí), Vladimir JANOUT (203 Česká republika), Maria Paula CURADO (250 Francie), Sergio KOIFMAN (76 Brazílie), Ana MENEZES (76 Brazílie), Victor WÜNSCH-FILHO (76 Brazílie), José ELUF-NETO (76 Brazílie), Paolo BOFFETTA (840 Spojené státy), Leticia Fernández GARROTE (192 Kuba), Diego SERRAINO (380 Itálie), Marcin LENER (616 Polsko), Ewa JAWOROWSKA (616 Polsko), Jan LUBINSKI (616 Polsko), Stefania BOCCIA (380 Itálie), Thangarajan RAJKUMAR (356 Indie), Tanuja Graham SAMANT (356 Indie), Manoj B. MAHIMKAR (356 Indie), Keitaro MATSUO (392 Japonsko), Silvia FRANCESCHI (250 Francie), Graham BYRNES (250 Francie), Paul BRENNAN (250 Francie) a James D. MCKAY (250 Francie)

Vydání

Plos one, San Francisco, Public Library of Science, 2015, 1932-6203

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30200 3.2 Clinical medicine

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 3.057

Kód RIV

RIV/00216224:14110/15:00087022

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1371/journal.pone.0117639

UT WoS

000352084200015

Klíčová slova anglicky

DIFFERENTIAL EXPRESSION ANALYSIS; GENOME-WIDE ASSOCIATION; HOMOLOGOUS RECOMBINATION; SYNTHETICALLY LETHAL; RAD52 INACTIVATION; BREAK REPAIR; LUNG-CANCER; RNA-SEQ; RISK; BRCA2

Štítky

EL OK

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 11. 4. 2016 09:58, Ing. Mgr. Věra Pospíšilíková

Anotace

V originále

Genetic variants located within the 12p13.33/RAD52 locus have been associated with lung squamous cell carcinoma (LUSC). Here, within 5,947 UADT cancers and 7,789 controls from 9 different studies, we found rs10849605, a common intronic variant in RAD52, to be also associated with upper aerodigestive tract (UADT) squamous cell carcinoma cases (OR = 1.09, 95% CI: 1.04-1.15, p = 6x10(-4)). We additionally identified rs10849605 as a RAD52 cis-eQTL inUADT(p = 1x10(-3)) and LUSC (p = 9x10(-4)) tumours, with the UADT/LUSC risk allele correlated with increased RAD52 expression levels. The 12p13.33 locus, encompassing rs10849605/RAD52, was identified as a significant somatic focal copy number amplification in UADT(n = 374, q-value = 0.075) and LUSC (n = 464, q-value = 0.007) tumors and correlated with higher RAD52 tumor expression levels (p = 6x10(-48) and p = 3x10(-29) in UADT and LUSC, respectively). In combination, these results implicate increased RAD52 expression in both genetic susceptibility and tumorigenesis of UADT and LUSC tumors.

Citovat

DELAHAYE-SOURDEIX, Manon, Chavier OLIVER, Maria N. TIMOFEEVA, Valérie GABORIEAU, Mattias JOHANSSON, Amélie CHABRIER, Magdalena B. WOZNIAK, Darren R. BRENNER, Maxime P. VALLÉE, Devasena ANANTHARAMAN, Pagona LAGIOU, Ivana HOLCÁTOVÁ, Lorenzo RICHIARDI, Kristina KJAERHEIM, Antonio AGUDO, Xavier CASTELLSAGUÉ, Tatiana V. MACFARLANE, Luigi BARZAN, Cristina CANOVA, Nalin S. THAKKER, David I. CONWAY, Ariana ZNAOR, Claire M. HEALY, Wolfgang AHRENS, David ZARIDZE, Neonilia SZESZENIA-DABROWSKA, Jolanta LISSOWSKA, Eleonora FABIANOVA, Ioan Nicolae MATES, Vladimir BENCKO, Lenka FORETOVÁ, Vladimir JANOUT, Maria Paula CURADO, Sergio KOIFMAN, Ana MENEZES, Victor WÜNSCH-FILHO, José ELUF-NETO, Paolo BOFFETTA, Leticia Fernández GARROTE, Diego SERRAINO, Marcin LENER, Ewa JAWOROWSKA, Jan LUBINSKI, Stefania BOCCIA, Thangarajan RAJKUMAR, Tanuja Graham SAMANT, Manoj B. MAHIMKAR, Keitaro MATSUO, Silvia FRANCESCHI, Graham BYRNES, Paul BRENNAN a James D. MCKAY. The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract. Plos one. San Francisco: Public Library of Science, 2015, roč. 10, č. 3, s. "e0117639", 12 s. ISSN 1932-6203. Dostupné z: https://dx.doi.org/10.1371/journal.pone.0117639.

@article{1339537,
   author = {DelahayeandSourdeix, Manon and Oliver, Chavier and Timofeeva, Maria N. and Gaborieau, Valérie and Johansson, Mattias and Chabrier, Amélie and Wozniak, Magdalena B. and Brenner, Darren R. and Vallée, Maxime P. and Anantharaman, Devasena and Lagiou, Pagona and Holcátová, Ivana and Richiardi, Lorenzo and Kjaerheim, Kristina and Agudo, Antonio and Castellsagué, Xavier and Macfarlane, Tatiana V. and Barzan, Luigi and Canova, Cristina and Thakker, Nalin S. and Conway, David I. and Znaor, Ariana and Healy, Claire M. and Ahrens, Wolfgang and Zaridze, David and SzeszeniaandDabrowska, Neonilia and Lissowska, Jolanta and Fabianova, Eleonora and Mates, Ioan Nicolae and Bencko, Vladimir and Foretová, Lenka and Janout, Vladimir and Curado, Maria Paula and Koifman, Sergio and Menezes, Ana and WünschandFilho, Victor and ElufandNeto, José and Boffetta, Paolo and Garrote, Leticia Fernández and Serraino, Diego and Lener, Marcin and Jaworowska, Ewa and Lubinski, Jan and Boccia, Stefania and Rajkumar, Thangarajan and Samant, Tanuja Graham and Mahimkar, Manoj B. and Matsuo, Keitaro and Franceschi, Silvia and Byrnes, Graham and Brennan, Paul and McKay, James D.},
   article_location = {San Francisco},
   article_number = {3},
   doi = {http://dx.doi.org/10.1371/journal.pone.0117639},
   keywords = {DIFFERENTIAL EXPRESSION ANALYSIS; GENOME-WIDE ASSOCIATION; HOMOLOGOUS RECOMBINATION; SYNTHETICALLY LETHAL; RAD52 INACTIVATION; BREAK REPAIR; LUNG-CANCER; RNA-SEQ; RISK; BRCA2},
   language = {eng},
   issn = {1932-6203},
   journal = {Plos one},
   title = {The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract},
   volume = {10},
   year = {2015}
}

TY  - JOUR
ID  - 1339537
AU  - Delahaye-Sourdeix, Manon - Oliver, Chavier - Timofeeva, Maria N. - Gaborieau, Valérie - Johansson, Mattias - Chabrier, Amélie - Wozniak, Magdalena B. - Brenner, Darren R. - Vallée, Maxime P. - Anantharaman, Devasena - Lagiou, Pagona - Holcátová, Ivana - Richiardi, Lorenzo - Kjaerheim, Kristina - Agudo, Antonio - Castellsagué, Xavier - Macfarlane, Tatiana V. - Barzan, Luigi - Canova, Cristina - Thakker, Nalin S. - Conway, David I. - Znaor, Ariana - Healy, Claire M. - Ahrens, Wolfgang - Zaridze, David - Szeszenia-Dabrowska, Neonilia - Lissowska, Jolanta - Fabianova, Eleonora - Mates, Ioan Nicolae - Bencko, Vladimir - Foretová, Lenka - Janout, Vladimir - Curado, Maria Paula - Koifman, Sergio - Menezes, Ana - Wünsch-Filho, Victor - Eluf-Neto, José - Boffetta, Paolo - Garrote, Leticia Fernández - Serraino, Diego - Lener, Marcin - Jaworowska, Ewa - Lubinski, Jan - Boccia, Stefania - Rajkumar, Thangarajan - Samant, Tanuja Graham - Mahimkar, Manoj B. - Matsuo, Keitaro - Franceschi, Silvia - Byrnes, Graham - Brennan, Paul - McKay, James D.
PY  - 2015
TI  - The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract
JF  - Plos one
VL  - 10
IS  - 3
SP  - "e0117639"
EP  - "e0117639"
PB  - Public Library of Science
SN  - 19326203
KW  - DIFFERENTIAL EXPRESSION ANALYSIS
KW  - GENOME-WIDE ASSOCIATION
KW  - HOMOLOGOUS RECOMBINATION
KW  - SYNTHETICALLY LETHAL
KW  - RAD52 INACTIVATION
KW  - BREAK REPAIR
KW  - LUNG-CANCER
KW  - RNA-SEQ
KW  - RISK
KW  - BRCA2
N2  - Genetic variants located within the 12p13.33/RAD52 locus have been associated with lung squamous cell carcinoma (LUSC). Here, within 5,947 UADT cancers and 7,789 controls from 9 different studies, we found rs10849605, a common intronic variant in RAD52, to be also associated with upper aerodigestive tract (UADT) squamous cell carcinoma cases (OR = 1.09, 95% CI: 1.04-1.15, p = 6x10(-4)). We additionally identified rs10849605 as a RAD52 cis-eQTL inUADT(p = 1x10(-3)) and LUSC (p = 9x10(-4)) tumours, with the UADT/LUSC risk allele correlated with increased RAD52 expression levels. The 12p13.33 locus, encompassing rs10849605/RAD52, was identified as a significant somatic focal copy number amplification in UADT(n = 374, q-value = 0.075) and LUSC (n = 464, q-value = 0.007) tumors and correlated with higher RAD52 tumor expression levels (p = 6x10(-48) and p = 3x10(-29) in UADT and LUSC, respectively). In combination, these results implicate increased RAD52 expression in both genetic susceptibility and tumorigenesis of UADT and LUSC tumors.
ER  -

DELAHAYE-SOURDEIX, Manon, Chavier OLIVER, Maria N. TIMOFEEVA, Valérie GABORIEAU, Mattias JOHANSSON, Amélie CHABRIER, Magdalena B. WOZNIAK, Darren R. BRENNER, Maxime P. VALLÉE, Devasena ANANTHARAMAN, Pagona LAGIOU, Ivana HOLCÁTOVÁ, Lorenzo RICHIARDI, Kristina KJAERHEIM, Antonio AGUDO, Xavier CASTELLSAGUÉ, Tatiana V. MACFARLANE, Luigi BARZAN, Cristina CANOVA, Nalin S. THAKKER, David I. CONWAY, Ariana ZNAOR, Claire M. HEALY, Wolfgang AHRENS, David ZARIDZE, Neonilia SZESZENIA-DABROWSKA, Jolanta LISSOWSKA, Eleonora FABIANOVA, Ioan Nicolae MATES, Vladimir BENCKO, Lenka FORETOVÁ, Vladimir JANOUT, Maria Paula CURADO, Sergio KOIFMAN, Ana MENEZES, Victor WÜNSCH-FILHO, José ELUF-NETO, Paolo BOFFETTA, Leticia Fernández GARROTE, Diego SERRAINO, Marcin LENER, Ewa JAWOROWSKA, Jan LUBINSKI, Stefania BOCCIA, Thangarajan RAJKUMAR, Tanuja Graham SAMANT, Manoj B. MAHIMKAR, Keitaro MATSUO, Silvia FRANCESCHI, Graham BYRNES, Paul BRENNAN a James D. MCKAY. The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract. \textit{Plos one}. San Francisco: Public Library of Science, 2015, roč.~10, č.~3, s.~''e0117639'', 12 s. ISSN~1932-6203. Dostupné z: https://dx.doi.org/10.1371/journal.pone.0117639.

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