The 12p13.33/RAD52 locus and genetic susceptibility to squamous cell cancers of upper aerodigestive tract

PloS One
Manon Delahaye-SourdeixJames D McKay

Abstract

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.

References

Aug 11, 1998·Trends in Biochemical Sciences·P Baumann, S C West
May 18, 2001·Nature·J H Hoeijmakers
Nov 29, 2002·Microbiology and Molecular Biology Reviews : MMBR·Lorraine S Symington
Jun 26, 2003·Nucleic Acids Research·Pauline C Ng, Steven Henikoff
Aug 24, 2006·Nature Reviews. Molecular Cell Biology·Patrick Sung, Hannah Klein
Feb 10, 2007·Science·Barbara E StrangerEmmanouil T Dermitzakis
Oct 19, 2007·Nature·UNKNOWN International HapMap ConsortiumJohn Stewart
Dec 14, 2007·Proceedings of the National Academy of Sciences of the United States of America·Rameen BeroukhimWilliam R Sellers
Jun 3, 2008·Nature Methods·Ali MortazaviBarbara Wold
Sep 25, 2008·International Journal of Cancer. Journal International Du Cancer·Eva NegriMia Hashibe
Mar 4, 2010·Genome Biology·Mark D Robinson, Alicia Oshlack
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Oct 15, 2010·Nature Biotechnology·Anna Portela, Manel Esteller
Dec 15, 2010·Proceedings of the National Academy of Sciences of the United States of America·Zhihui FengSimon N Powell
Dec 30, 2010·Proceedings of the National Academy of Sciences of the United States of America·Jie Liu, Wolf-Dietrich Heyer
Feb 26, 2011·International Journal of Cancer. Journal International Du Cancer·Jacques FerlayDonald Maxwell Parkin
Aug 18, 2012·Human Molecular Genetics·Maria N TimofeevaUNKNOWN Transdisciplinary Research in Cancer of the Lung (TRICL) Research Team
Oct 17, 2012·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Benjamin H Lok, Simon N Powell
Dec 4, 2012·Nucleic Acids Research·Paul FlicekStephen M J Searle
Jun 2, 2014·Nature Genetics·Yufei WangChristopher I Amos
Apr 4, 2015·Journal of the National Cancer Institute·Manon Delahaye-SourdeixJames D McKay

❮ Previous
Next ❯

Citations

Jun 28, 2016·Nature Structural & Molecular Biology·Fena OchsClaudia Lukas
Oct 19, 2016·The Journal of Alternative and Complementary Medicine : Research on Paradigm, Practice, and Policy·Hyun-Yong LeeChang-Gue Son
Oct 1, 2016·Oral Oncology·Rejane Augusta de Oliveira FigueiredoVictor Wünsch-Filho
Oct 31, 2017·Therapeutic Advances in Medical Oncology·Davide CarusoFederica Tomao

❮ Previous
Next ❯

Methods Mentioned

BETA
genotyping
exome sequencing
RNAseq

Software Mentioned

GISTIC
GATK
Genomic Identification of Significant Targets in Cancer ( GIST...
EIGENSOFT
SIFT
EdgeR
Structure
EIGENSTRAT
GISTIC2
MuTect

Related Concepts

Related Feeds

Breast Cancer: BRCA1 & BRCA2

Mutations involving BRCA1, found on chromosome 17, and BRCA2, found on chromosome 13, increase the risk for specific cancers, such as breast cancer. Discover the last research on breast cancer BRCA1 and BRCA2 here.

Carcinoma, Squamous Cell

Basal cell carcinoma is a form of malignant skin cancer found on the head and neck regions and has low rates of metastasis. Discover the latest research on basal cell carcinoma here.

Related Papers

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
Bruce M Wenig
Medicina oral : órgano oficial de la Sociedad Española de Medicina Oral y de la Academia Iberoamericana de Patología y Medicina Bucal
L.-M. Ruiz-GodoyA. Mosqueda
Deutsche Zeitschrift für Mund-, Kiefer- und Gesichts-Chirurgie
R Grässel-PietruskyH J Pesch
© 2021 Meta ULC. All rights reserved