Next-generation sequencing identifies germline MRE11A variants as markers of radiotherapy outcomes in muscle-invasive bladder cancer

Annals of Oncology

Volumn 25, Issue 4, 2014, Pages 877-883

  Teo, M T W ^a   Dyrskjot L ^b   Nsengimana, J ^a   Buchwald, C ^c   Snowden, H ^a   Morgan, J ^a   Jensen, J B ^b   Knowles, M A ^a   Taylor, G ^a   Barrett, J H ^a   Borre, M ^b   orntoft T F ^b   Bishop, D T ^a   Kiltie, A E ^c  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Biomarkers; Bladder cancer; Cystectomy; MRE11A; Next generation sequencing; Radiotherapy

Indexed keywords

CARBOGEN; GEMCITABINE; NICOTINAMIDE; PROTEIN MRE11A; TUMOR PROTEIN; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; MRE11A PROTEIN, HUMAN; TUMOR MARKER;

ADULT; AGED; ARTICLE; BLADDER DISEASE; CANCER CELL CULTURE; CANCER RADIOTHERAPY; CANCER STAGING; CANCER SURVIVAL; CONTROLLED STUDY; CYSTECTOMY; FEMALE; GENE AMPLIFICATION; GENE DOSAGE; GENE EXPRESSION; GENE FREQUENCY; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MALE; MRE11A GENE; MUSCLE INVASIVE BLADDER CANCER; NEXT GENERATION SEQUENCING; OUTCOME ASSESSMENT; PREDICTIVE VALUE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN EXPRESSION; RECTUM DISEASE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR GENE; VERY ELDERLY; BIOSYNTHESIS; DIAGNOSTIC USE; GENETICS; GERMLINE MUTATION; HIGH THROUGHPUT SEQUENCING; MIDDLE AGED; NEOPLASM INVASIVENESS; PATHOLOGY; TREATMENT OUTCOME; URINARY BLADDER NEOPLASMS;

AGED; AGED, 80 AND OVER; DNA-BINDING PROTEINS; FEMALE; GERM-LINE MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MIDDLE AGED; NEOPLASM INVASIVENESS; PROGNOSIS; TREATMENT OUTCOME; TUMOR MARKERS, BIOLOGICAL; URINARY BLADDER NEOPLASMS;

EID: 84897070672     PISSN: 09237534     EISSN: 15698041     Source Type: Journal    
DOI: 10.1093/annonc/mdu014     Document Type: Article

References (24)

1. Efstathiou JA, Spiegel DY, Shipley WU et al. Long-term outcomes of selective bladder preservation by combined-modality therapy for invasive bladder cancer: the MGH experience. Eur Urol 2012;61:705-711.
2. Kotwal S, Choudhury A, Johnston C et al. Similar treatment outcomes for radical cystectomy and radical radiotherapy in invasive bladder cancer treated at a United Kingdom specialist treatment center. Int J Radiat Oncol Biol Phys 2008;70: 456-463.
3. Huddart RA, Hall E, Lewis R et al. Life and death of spare (selective bladder preservation against radical excision): reflections on why the spare trial closed. BJU Int 2010;106:753-755.
4. Lavin MF. ATM and the Mre11 complex combine to recognize and signal DNA double-strand breaks. Oncogene 2007;26:7749-7758.
5. Choudhury A, Nelson LD, Teo MT et al. MRE11 expression is predictive of causespecific survival following radical radiotherapy for muscle-invasive bladder cancer. Cancer Res 2010;70:7017-7026.
6. Laurberg JR, Brems-Eskildsen AS, Nordentoft I et al. Expression of TIP60 (tatinteractive protein) and MRE11 (meiotic recombination 11 homolog) predict treatment-specific outcome of localised invasive bladder cancer. BJU Int 2012; 110: E1228-E1236.
7. Choudhury A, Elliott F, Iles MM et al. Analysis of variants in DNA damage signalling genes in bladder cancer. BMC Med Genet 2008;9:69.
8. Stern MC, Lin J, Figueroa JD et al. Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer. Cancer Res 2009;69:6857-6864.
9. Sakano S, Wada T, Matsumoto H et al. Single nucleotide polymorphisms in DNA repair genes might be prognostic factors in muscle-invasive bladder cancer patients treated with chemoradiotherapy. Br J Cancer 2006;95:561-570.
10. Barnett GC, Coles CE, Elliott RM et al. Independent validation of genes and polymorphisms reported to be associated with radiation toxicity: a prospective analysis study. Lancet Oncol 2012;13:65-77.
11. Craig DW, Pearson JV, Szelinger S et al. Identification of genetic variants using bar-coded multiplexed sequencing. Nat Methods 2008;5:887-893.
12. Teo MT, Landi D, Taylor CF et al. The role of microRNA-binding site polymorphisms in DNA repair genes as risk factors for bladder cancer and breast cancer and their impact on radiotherapy outcomes. Carcinogenesis 2012;33:581-586.
13. Jensen JB, Munksgaard PP, Sorensen CM et al. High expression of karyopherinalpha2 defines poor prognosis in non-muscle-invasive bladder cancer and in patients with invasive bladder cancer undergoing radical cystectomy. Eur Urol 2011;59:841-848.
14. Morgan JE, Carr IM, Sheridan E et al. Genetic diagnosis of familial breast cancer using clonal sequencing. Hum Mutat 2010;31:484-491.
15. Carr IM, Morgan JE, Diggle CP et al. Illuminator, a desktop program for mutation detection using short-read clonal sequencing. Genomics 2011;98:302-309.
16. Ricceri F, Porcedda P, Allione A et al. Involvement of MRE11A and XPA gene polymorphisms in the modulation of DNA double-strand break repair activity: a genotype-phenotype correlation study. DNA Repair (Amst) 2011;10:1044-1050.
17. Grossmann V, Haferlach C, Weissmann S et al. The molecular profile of adult Tcell acute lymphoblastic leukemia: mutations in RUNX1 and DNMT3A are associated with poor prognosis in T-ALL. Genes Chromosomes Cancer 2013;52: 410-422.
18. Jadersten M, Saft L, Smith A et al. TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression. J Clin Oncol 2011;29: 1971-1979.
19. Kohlmann A, Grossmann V, Klein HU et al. Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1. J Clin Oncol 2010;28:3858-3865.
20. Smith AE, Mohamedali AM, Kulasekararaj A et al. Next-generation sequencing of the TET2 gene in 355 MDS and CMML patients reveals low-abundance mutant clones with early origins, but indicates no definite prognostic value. Blood 2010; 116:3923-3932.
21. Harakalova M, Mokry M, Hrdlickova B et al. Multiplexed array-based and insolution genomic enrichment for flexible and cost-effective targeted nextgeneration sequencing. Nat Protoc 2011;6:1870-1886.
22. Rivas MA, Beaudoin M, Gardet A et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet 2011;43:1066-1073.
23. Hoskin PJ, Rojas AM, Bentzen SM et al. Radiotherapy with concurrent carbogen and nicotinamide in bladder carcinoma. J Clin Oncol 2010;28: 4912-4918.
24. James ND, Hussain SA, Hall E et al. Radiotherapy with or without chemotherapy in muscle-invasive bladder cancer. N Engl J Med 2012;366:1477-1488.