Assessment of SLX4 Mutations in Hereditary Breast Cancers

PLoS ONE

Volumn 8, Issue 6, 2013, Pages

  Shah, Sohela ^a   Kim, Yonghwan ^b,d   Ostrovnaya, Irina ^a   Murali, Rajmohan ^a   Schrader, Kasmintan A ^a   Lach, Francis P ^b   Sarrel, Kara ^a   Rau Murthy, Rohini ^a   Hansen, Nichole ^a   Zhang, Liyng ^a   Kirchhoff, Tomas ^a   Stadler, Zsofia ^a,c   Robson, Mark ^a,c   Vijai, Joseph ^a   Offit, Kenneth ^a,c   Smogorzewska, Agata ^b  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^b ROCKEFELLER UNIVERSITY   (United States)

^c WEILL CORNELL MEDICAL COLLEGE   (United States)

^d Sookmyung Women's University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

CAMPTOTHECIN; MITOMYCIN; OLAPARIB; RECOMBINASE; SLX4 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER SUSCEPTIBILITY; DRUG SENSITIVITY; FAMILIAL CANCER; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; SLX4 GENE; BREAST TUMOR; CELL LINE; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; VERY ELDERLY; YOUNG ADULT;

ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; BREAST NEOPLASMS; CELL LINE; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MIDDLE AGED; MUTATION; RECOMBINASES; YOUNG ADULT;

EID: 84879493943     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0066961     Document Type: Article

References (29)

1. Negrini S, Gorgoulis VG, Halazonetis TD, (2010) Genomic instability-an evolving hallmark of cancer. Nat Rev Mol Cell Biol 11: 220-228.
2. Farmer H, McCabe N, Lord CJ, Tutt AN, Johnson DA, et al. (2005) Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 434: 917-921.
3. Turnbull C, Rahman N, (2008) Genetic predisposition to breast cancer: past, present, and future. Annu Rev Genomics Hum Genet 9: 321-345.
4. Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, et al. (2010) Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 42: 410-414.
5. Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, et al. (2011) Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet 43: 879-882.
6. Deans AJ, West SC, (2011) DNA interstrand crosslink repair and cancer. Nat Rev Cancer 11: 467-480.
7. Kottemann MC, Smogorzewska A, (2013) Fanconi anaemia and the repair of Watson and Crick DNA crosslinks. Nature 493: 356-363.
8. Garner E, Smogorzewska A, (2011) Ubiquitylation and the Fanconi anemia pathway. FEBS Lett 585: 2853-2860.
9. Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, et al. (2001) Interaction of the fanconi anemia proteins and BRCA1 in a common pathway. Molecular Cell 7: 249-262.
10. Smogorzewska A, Matsuoka S, Vinciguerra P, McDonald ER, 3rd, Hurov KE, et al (2007) Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. Cell 129: 289-301.
11. Knipscheer P, Raschle M, Smogorzewska A, Enoiu M, Ho TV, et al. (2009) The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair. Science 326: 1698-1701.
12. Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, et al. (2011) Mutations of the SLX4 gene in Fanconi anemia. Nat Genet 43: 142-146.
13. Stoepker C, Hain K, Schuster B, Hilhorst-Hofstee Y, Rooimans MA, et al. (2011) SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. Nat Genet 43: 138-141.
14. Svendsen JM, Smogorzewska A, Sowa ME, O'Connell BC, Gygi SP, et al. (2009) Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair. Cell 138: 63-77.
15. 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.
16. Munoz IM, Hain K, Declais AC, Gardiner M, Toh GW, et al. (2009) Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair. Mol Cell 35: 116-127.
17. Kim Y, Spitz GS, Veturi U, Lach FP, Auerbach AD, et al. (2013) Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4. Blood 121: 54-63.
18. 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.
19. Catucci I, Colombo M, Verderio P, Bernard L, Ficarazzi F, et al. (2012) Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases. PLoS One 7: e31038.
20. Fernandez-Rodriguez J, Quiles F, Blanco I, Teule A, Feliubadalo L, et al. (2012) Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families. BMC Cancer 12: 84.
21. Bakker JL, van Mil SE, Crossan G, Sabbaghian N, De Leeneer K, et al. (2012) Analysis of the novel Fanconi anemia gene SLX4/FANCP in familial breast cancer cases. Hum Mutat.
22. de Garibay GR, Diaz A, Gavina B, Romero A, Garre P, et al. (2012) Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families. Eur J Hum Genet.
23. Rozen S, Skaletsky H, (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132: 365-386.
24. Gordon D, Abajian C, Green P, (1998) Consed: a graphical tool for sequence finishing. Genome Res 8: 195-202.
25. Nickerson DA, Tobe VO, Taylor SL, (1997) PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 25: 2745-2751.
26. Chen K, McLellan MD, Ding L, Wendl MC, Kasai Y, et al. (2007) PolyScan: an automatic indel and SNP detection approach to the analysis of human resequencing data. Genome Res 17: 659-666.
27. Altshuler D, Durbin RM, Abecasis GR, Bentley DR, Chakravarti A, et al. (2010) A map of human genome variation from population-scale sequencing. Nature 467: 1061-1073.
28. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, et al. (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Research 29: 308-311.
29. King TA, Li W, Brogi E, Yee CJ, Gemignani ML, et al. (2007) Heterogenic loss of the wild-type BRCA allele in human breast tumorigenesis. Annals of Surgical Oncology 14: 2510-2518.