Mutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer

PLoS ONE

Volumn 9, Issue 1, 2014, Pages

  Kohlhase, Sandra ^a   Bogdanova, Natalia V ^a   Schur̈mann, Peter ^a   Bermisheva, Marina ^a,b   Khusnutdinova, Elza ^b   Antonenkova, Natalia ^c   Park Simon, Tjoung Won ^a   Hillemanns, Peter ^a   Meyer, Andreas ^a   Christiansen, Hans ^a   Schindler, Detlev ^d   Dor̈k, Thilo ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b INSTITUTE OF BIOCHEMISTRY AND GENETICS   (Russian Federation)

^c Research Institute of Oncology and Medical Radiology of the Ministry of Health of the Byelorussian SSR   (Belarus)

^d UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; BELARUS; BREAST CANCER; CANCER SCREENING; CANCER SURVIVAL; CANCER SUSCEPTIBILITY; CASE CONTROL STUDY; CLINICAL ARTICLE; CONTROLLED STUDY; ERCC4 GENE; FAMILIAL CANCER; FANCQ GENE; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; GERMANY; HAPLOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTATIONAL ANALYSIS; RUSSIAN FEDERATION; UNTRANSLATED REGION;

ADULT; ALLELES; BREAST NEOPLASMS; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EUROPE, EASTERN; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERMANY; HAPLOTYPES; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUTATION; RISK; SURVIVAL ANALYSIS;

EID: 84908043824     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0085334     Document Type: Article

References (34)

1. Ciccia A, McDonald N, West SC (2008) Structural and functional relationships of the XPF/MUS81 family of proteins. Annu Rev Biochem 77: 259-287.
2. McDaniel LD, Schultz RA (2008) XPF/ERCC4 and ERCC1: their products and biological roles. Adv Exp Med Biol 637: 65-82.
3. Schwartz EK, Heyer WD (2011) Processing of joint molecule intermediates by structure-selective endonucleases during homologous recombination in eukaryotes. Chromosoma 120: 109-127.
4. Fadda E (2013) Conformational determinants for the recruitment of ERCC1 by XPA in the nucleotide excision repair (NER) Pathway: structure and dynamics of the XPA binding motif. Biophys J 104: 2503-2511.
5. Fekairi S, Scaglione S, Chahwan C, Taylor ER, Tissier A, et al. (2009) Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases. Cell 138: 78-89.
6. Motycka TA, Bessho T, Post SM, Sung P, Tomkinson AE (2004) Physical and functional interaction between the XPF/ERCC1 endonuclease and hRad52. J Biol Chem 279: 13634-13639. (Pubitemid 38468890)
7. Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, et al. (2013) Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. Am J Hum Genet 92: 800-806.
8. Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, et al. (2013) Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. Am J Hum Genet 92: 807-819.
9. Ghoussaini M, Pharoah PD, Easton DF (2013) Inherited genetic susceptibility to breast cancer: the beginning of the end or the end of the beginning? Am J Pathol 183: 1038-1051.
10. Bogdanova N, Helbig S, Dörk T (2013) Hereditary breast cancer: ever more pieces to the polygenic puzzle. Hered Cancer Clin Pract 11: 12.
11. Backe J, Hofferbert S, Skawran B, Dörk T, Stuhrmann M, et al. (1999) Frequency of BRCA1 mutation 5382insC in German breast cancer patients. Gynecol Oncol 72: 402-406. (Pubitemid 29118199)
12. Dörk T, Bendix R, Bremer M, Rades D, Klöpper K, et al. (2001) Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients. Cancer Res 61: 7608-7615. (Pubitemid 32995055)
13. The CHEK2 Breast Cancer Case-Control Consortium (2004) CHEK2*1100-delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74: 1175-1182.
14. Bogdanova N, Enßen-Dubrowinskaja N, Festchenko S, Lazijuk S, Rogov YI, et al. (2005) Association of two mutations in the CHEK2 gene with breast cancer. Int J Cancer 116: 263-266. (Pubitemid 40967263)
15. Bogdanova N, Feshchenko S, Cybulski C, Dörk T (2007) CHEK2 mutation and hereditary breast cancer. J Clin Oncol 95: e26.
16. Bogdanova N, Feshchenko S, Schürmann P, Waltes R, Wieland B, et al. (2008) Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int J Cancer 122: 802-806.
17. Landwehr R, Bogdanova NV, Antonenkova N, Meyer A, Bremer M, et al. (2011) Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer. Breast Cancer Res Treat 130: 1021-1028.
18. Prokofyeva D, Bogdanova N, Dubrowinskaja N, Bermisheva M, Takhirova Z, et al. (2013) Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. Breast Cancer Res Treat 137: 533-539.
19. The Breast Cancer Association Consortium (2006) Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium. J Natl Cancer Inst 98: 1382-1396.
20. Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MWR, et al (2007) A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet 39: 352-358. (Pubitemid 46328496)
21. Easton DF, Pooley KA, Dunning AM, Pharoah PDP, Thompson D, et al (2007) A genome-wide association study identifies breast cancer susceptibility loci. Nature 447: 1087-1093. (Pubitemid 47014426)
22. Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, et al. (2009) Novel breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet 41: 585-590.
23. Gaudet MM, Milne RL, Cox A, Camp NJ, Goode EL, et al. (2009) Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium. Cancer Epidemiol Biomarkers Prev 18: 1610-1616.
24. Ghoussaini M, Fletcher O, Michailidou K, Turnbull C, Schmidt MK, et al. (2012) Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet 44: 312-318.
25. Bogdanova N, Cybulski C, Bermisheva M, Datsyuk I, Yamini P, et al. (2009) A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer. Breast Cancer Res Treat 118: 207-211.
26. Bogdanova N, Antonenkova NN, Rogov YI, Karstens JH, Hillemanns P, et al. (2010) High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus. Clin Genet 78: 364-372.
27. Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, et al. (2013) Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 45: 353-361
28. González-Pérez A, López-Bigas N (2011) Improving the assessment of the outcome of nonsynonymous SNVs with a Consensus Deleteriousness Score. Am J Hum Genet 88: 440-449.
29. Eng L, Coutinho G, Nahas S, Yeo G, Tanouye R, et al. (2004) Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths. Hum Mutat 23: 67-76. (Pubitemid 38056103)
30. Jorgensen TJ, Helzlsouer KJ, Clipp SC, Bolton JH, Crum RM, et al. (2009) DNA repair gene variants associated with benign breast disease in high cancer risk women. Cancer Epidemiol Biomarkers Prev 18: 346-350.
31. Ding DP, He XF, Zhang Y (2011) Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a meta-analysis of case-control studies. Breast Cancer Res Treat 129: 203-209.
32. McNeil EM, Melton DW (2012) DNA repair endonuclease ERCC1-XPF as a novel therapeutic target to overcome chemoresistance in cancer therapy. Nucleic Acids Res 40: 9990-10004.
33. Milne RL, Ribas G, González-Neira A, Fagerholm R, Salas A, et al. (2006) ERCC4 associated with breast cancer risk: a two-stage case-control study using high-throughput genotyping. Cancer Res 66: 9420-9427. (Pubitemid 44623638)
34. Osorio A, Bogliolo M, Fernández V, Barroso A, de la Hoya M, et al. (2013) Evaluation of rare variants in the new Fanconi Anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles. Hum Mutat 34: 1615-1618.