Fanconi's anemia in adulthood: Chemoradiation-induced bone marrow failure and a novel FANCA mutation identified by targeted deep sequencing

Journal of Clinical Oncology

Volumn 29, Issue 20, 2011, Pages

  Tan, Iain Beehuat ^a,b   Cutcutache, Ioana ^c   Zang, Zhi Jiang ^a   Iqbal, Jabed ^d   Yap, Seow Fong ^a   Hwang, William ^d   Lim, Wan Teck ^a   Teh, Bin Tean ^a,e   Rozen, Steve ^c   Tan, Eng Huat ^a   Tan, Patrick ^a,c,f,g  

^a DIVISION OF MEDICAL ONCOLOGY   (Singapore)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^c DUKE NUS MEDICAL SCHOOL   (Singapore)

^d SINGAPORE GENERAL HOSPITAL   (Singapore)

^e VAN ANDEL RESEARCH INSTITUTE   (United States)

^f NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^g GENOME INSTITUTE OF SINGAPORE   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

CISPLATIN; EPIDERMAL GROWTH FACTOR RECEPTOR; FANCONI ANEMIA GROUP A PROTEIN; FLUDARABINE; RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR;

ADULT; ADULTHOOD; ARTICLE; BONE MARROW DEPRESSION; BONE MARROW TRANSPLANTATION; CANCER STAGING; CASE REPORT; CHEMORADIOTHERAPY; CHROMOSOME BREAKAGE; FANCONI ANEMIA; FEMALE; GENE MUTATION; HEAD AND NECK CARCINOMA; HUMAN; HUMAN TISSUE; MULTIPLE ORGAN FAILURE; PHASE 2 CLINICAL TRIAL; PRIORITY JOURNAL; PYRIFORM SINUS; SEQUENCE ANALYSIS; SINGLE DRUG DOSE; SQUAMOUS CELL CARCINOMA;

ADULT; ANTINEOPLASTIC AGENTS; CARCINOMA, SQUAMOUS CELL; CISPLATIN; DNA MUTATIONAL ANALYSIS; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP A PROTEIN; FEMALE; HEAD AND NECK NEOPLASMS; HUMANS; MUTATION; RADIOTHERAPY;

EID: 79960280380     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2011.35.1064     Document Type: Article

References (33)

1. Auerbach AD: Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hematol 21:731-733, 1993
2. Rojas E, Lopez MC, Valverde M: Single cell gel electrophoresis assay: Methodology and applications. J Chromatogr B Biomed Sci Appl 722:225-254, 1999 (Pubitemid 29142512)
3. Joenje H, Patel KJ: The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet 2:446-457, 2001 (Pubitemid 33673411)
4. D'Andrea AD: Susceptibility pathways in Fanconi's anemia and breast cancer. N Engl J Med 362:1909-1919, 2010
5. Metzker ML: Sequencing technologies: The next generation. Nat Rev Genet 11:31-46, 2010
6. Barker DL, Hansen MS, Faruqi AF, et al: Two methods of whole-genome amplification enable accurate genotyping across a 2320-SNP linkage panel. Genome Res 14:901-907, 2004 (Pubitemid 38660508)
7. Ng SB, Turner EH, Robertson PD, et al: Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461:272-276, 2009
8. Gnirke A, Melnikov A, Maguire J, et al: Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol 27:182-189, 2009
9. Agilent Technologies: eArray. 2011. https://earray.chem.agilent.com/ earray
10. Tarailo-Graovac M, Chen N: Using RepeatMasker to identify repetitive elements in genomic sequences. Curr Protoc Bioinformatics 4:10, 2009
11. Campbell PJ, Stephens PJ, Pleasance ED, et al: Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet 40:722-729, 2008 (Pubitemid 351748860)
12. Mardis ER: Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet 9:387-402, 2008
13. McKenna A, Hanna M, Banks E, et al: The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297-1303, 2010
14. Sherry ST, Ward MH, Kholodov M, et al: DbSNP: The NCBI database of genetic variation. Nucleic Acids Res 29:308-311, 2001 (Pubitemid 32054478)
15. Durbin RM, Abecasis GR, Altshuler DL, et al: A map of human genome variation from population-scale sequencing. Nature 467:1061-1073, 2010
16. Pruitt KD, Harrow J, Harte RA, et al: The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. Genome Res 19:1316-1323, 2009
17. Pruitt KD, Tatusova T, Maglott DR: NCBI reference sequences (RefSeq): A curated non-redundant sequence database of genomes, transcripts and proteins. Nucleic Acids Res 35:D61-5, 2007
18. Flicek P, Aken BL, Ballester B, et al: Ensembl's 10th year. Nucleic Acids Res 38:D557-62, 2010
19. Hsu F, Kent WJ, Clawson H, et al: The UCSC Known Genes. Bioinformatics 22:1036-1046, 2006
20. The Rockefeller University: Fanconi Anemia Mutation Database. 2011. http://www.rockefeller.edu/fanconi/mutate/
21. Rosenberg PS, Greene MH, Alter BP: Cancer incidence in persons with Fanconi anemia. Blood 101:822-826, 2003 (Pubitemid 36139345)
22. Alter BP, Greene MH, Velazquez I, et al: Cancer in Fanconi anemia. Blood 101:2072, 2003
23. Rosenberg PS, Alter BP, Ebell W: Cancer risks in Fanconi anemia: Findings from the German Fanconi Anemia Registry. Haematologica 93:511-517, 2008 (Pubitemid 351536378)
24. Llewellyn CD, Johnson NW, Warnakulasuriya KA: Risk factors for squamous cell carcinoma of the oral cavity in young people - a comprehensive literature review. Oral Oncol 37:401-418, 2001 (Pubitemid 32480278)
25. Llewellyn CD, Linklater K, Bell J, et al: Squamous cell carcinoma of the oral cavity in patients aged 45 years and under: A descriptive analysis of 116 cases diagnosed in the South East of England from 1990 to 1997. Oral Oncol 39:106-114, 2003
26. Tremblay S, Pintor Dos Reis P, Bradley G, et al: Young patients with oral squamous cell carcinoma: Study of the involvement of GSTP1 and deregulation of the Fanconi anemia genes. Arch Otolaryngol Head Neck Surg 132:958-966, 2006 (Pubitemid 44423378)
27. Neveling K, Endt D, Hoehn H, et al: Genotype-phenotype correlations in Fanconi anemia. Mutat Res 668:73-91, 2009
28. Ramensky V, Bork P, Sunyaev S: Human non-synonymous SNPs: Server and survey. Nucleic Acids Res 30:3894-3900, 2002 (Pubitemid 35012462)
29. Ng PC, Henikoff S: Predicting deleterious amino acid substitutions. Genome Res 11:863-874, 2001 (Pubitemid 32447869)
30. Alter BP, Joenje H, Oostra AB, et al: Fanconi anemia: Adult head and neck cancer and hematopoietic mosaicism. Arch Otolaryngol Head Neck Surg 131:635-639, 2005 (Pubitemid 41058056)
31. Lo Ten Foe JR, Kwee ML, Rooimans MA, et al: Somatic mosaicism in Fanconi anemia: Molecular basis and clinical significance. Eur J Hum Genet 5:137-148, 1997 (Pubitemid 27356701)
32. Edvardson S, Shaag A, Zenvirt S, et al: Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. Am J Hum Genet 86:93-97, 2010
33. Lupski JR, Reid JG, Gonzaga-Jauregui C, et al: Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 362:1181-1191, 2010