A DNA repair variant in POLQ (c.-1060A > G) is associated to hereditary breast cancer patients: A case-control study

BMC Cancer

Volumn 14, Issue 1, 2014, Pages

  Brandalize, Ana Paula Carneiro ^a,c,d   Schüler Faccini, Lavínia ^b,d   Hoffmann, Jean Sébastien ^e,f   Caleffi, Maira ^g   Cazaux, Christophe ^e,f   Ashton Prolla, Patricia ^a,b,d  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^c UNIVERSITY OF CAXIAS DO SUL   (Brazil)

^d INAGEMP   (Brazil)

^e CANCER RESEARCH CENTER OF TOULOUSE   (France)

^f UNIVERSITÉ DE TOULOUSE   (France)

^g HOSPITAL MOINHOS DE VENTO   (Brazil)

Author keywords

Breast cancer; DNA repair; POLQ; SNP; Translesional DNA polymerase

Indexed keywords

ADENINE; DNA POLYMERASE; GUANINE; PROTEIN POLQ; TUMOR MARKER; UNCLASSIFIED DRUG; DNA DIRECTED DNA POLYMERASE; DNA POLYMERASE THETA;

ADULT; ARTICLE; BRAZIL; BREAST CANCER; CANCER PATIENT; CANCER RISK; CASE CONTROL STUDY; COHORT ANALYSIS; CONTROLLED STUDY; DNA REPAIR; DOUBLE STRANDED DNA BREAK; EXON; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE LOCATION; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC VARIABILITY; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MIDDLE AGED; POPULATION GENETICS; PROMOTER REGION; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; ALLELE; AMINO ACID SUBSTITUTION; BREAST TUMOR; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; RISK;

ALLELES; AMINO ACID SUBSTITUTION; BREAST NEOPLASMS; CASE-CONTROL STUDIES; DNA REPAIR; DNA-DIRECTED DNA POLYMERASE; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HUMANS; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84936756993     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-14-850     Document Type: Article

References (44)

1. Kobayashi H, Ohno S, Sasaki Y, Matsuura M: Hereditary breast and ovarian cancer susceptibility genes (Review). Oncol Rep 2013, 30(3):1019-1029.
2. Wang X, Szabo C, Qian C, Amadio PG, Thibodeau SN, Cerhan JR, Petersen GM, Liu W, Couch FJ: Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers. Cancer Res 2008, 68(4):971-975.
3. Jasin M: Homologous repair of DNA damage and tumorigenesis: the BRCA connection. Oncogene 2002, 21(58):8981-8993.
4. Zhao WT, Wang YT, Huang ZW, Fang J: BRCA2 affects the efficiency of DNA double-strand break repair in response to N-nitroso compounds with differing carcinogenic potentials. Oncol Lett 2013, 5(6):1948-1954.
5. Hanahan D, Weinberg RA: Hallmarks of cancer: the next generation. Cell 2011, 144(5):646-674.
6. Konishi H, Mohseni M, Tamaki A, Garay JP, Croessmann S, Karnan S, Ota A, Wong HY, Konishi Y, Karakas B, Tahir K, Abukhdeir AM, Gustin JP, Cidado J, Wang GM, Cosgrove D, Cochran R, Jelovac D, Higgins MJ, Arena S, Hawkins L, Lauring J, Gross AL, Heaphy CM, Hosokawa Y, Gabrielson E, Meeker AK, Visvanathan K, Argani P, Bachman KE, et al: Mutation of a single allele of the cancer susceptibility gene BRCA1 leads to genomic instability in human breast epithelial cells. Proc Natl Acad Sci U S A 2011, 108(43):17773-17778.
7. Liu Y, West SC: Distinct functions of BRCA1 and BRCA2 in double-strand break repair. Breast Cancer Res 2002, 4(1):9-13.
8. Golmard L, Caux-Moncoutier V, Davy G, Al Ageeli E, Poirot B, Tirapo C, Michaux D, Barbaroux C, d'Enghien CD, Nicolas A, Castéra L, Sastre-Garau X, Stern MH, Houdayer C, Stoppa-Lyonnet D: Germline mutation in the RAD51B gene confers predisposition to breast cancer. BMC Cancer 2013, 13:484.
9. Seki M, Masutani C, Yang LW, Schuffert A, Iwai S, Bahar I, Wood RD: Highefficiency bypass of DNA damage by human DNA polymerase Q. EMBO J 2004, 23(22):4484-4494.
10. Seki M, Wood RD: DNA polymerase theta (POLQ) can extend from mismatches and from bases opposite a (6-4) photoproduct. DNA Repair (Amst) 2008, 7(1):119-127.
11. Boyd JB, Sakaguchi K, Harris PV: mus308 mutants of Drosophila exhibit hypersensitivity to DNA cross-linking agents and are defective in a deoxyribonuclease. Genetics 1990, 125(4):813-819.
12. Seki M, Marini F, Wood RD: POLQ (Pol theta), a DNA polymerase and DNA-dependent ATPase in human cells. Nucleic Acids Res 2003, 31(21):6117-6126.
13. Arana ME, Seki M, Wood RD, Rogozin IB, Kunkel TA: Low-fidelity DNA synthesis by human DNA polymerase theta. Nucleic Acids Res 2008, 36(11):3847-3856.
14. Yousefzadeh MJ, Wood RD: DNA polymerase POLQ and cellular defense against DNA damage. DNA Repair (Amst) 2013, 12(1):1-9.
15. Yoshimura M, Kohzaki M, Nakamura J, Asagoshi K, Sonoda E, Hou E, Prasad R, Wilson SH, Tano K, Yasui A, Lan L, Seki M, Wood RD, Arakawa H, Buerstedde JM, Hochegger H, Okada T, Hiraoka M, Takeda S: Vertebrate POLQ and POLbeta cooperate in base excision repair of oxidative DNA damage. Mol Cell 2006, 24(1):115-125.
16. Prasad R, Longley MJ, Sharief FS, Hou EW, Copeland WC, Wilson SH: Human DNA polymerase theta possesses 5'-dRP lyase activity and functions in single-nucleotide base excision repair in vitro. Nucleic Acids Res 2009, 37(6):1868-1877.
17. Asagoshi K, Lehmann W, Braithwaite EK, Santana-Santos L, Prasad R, Freedman JH, Van Houten B, Wilson SH: Single-nucleotide base excision repair DNA polymerase activity in C. elegans in the absence of DNA polymerase β. Nucleic Acids Res 2012, 40(2):670-681.
18. Yu AM, McVey M: Synthesis-dependent microhomology-mediated end joining accounts for multiple types of repair junctions. Nucleic Acids Res 2010, 38(17):5706-5717.
19. Chan SH, Yu AM, McVey M: Dual roles for DNA polymerase theta in alternative end-joining repair of double-strand breaks in Drosophila. PLoS Genet 2010, 6(7):e1001005.
20. Goff JP, Shields DS, Seki M, Choi S, Epperly MW, Dixon T, Wang H, Bakkenist CJ, Dertinger SD, Torous DK, Wittschieben J, Wood RD, Greenberger JS: Lack of DNA polymerase theta (POLQ) radiosensitizes bone marrow stromal cells in vitro and increases reticulocyte micronuclei after total-body irradiation. Radiat Res 2009, 172(2):165-174.
21. Higgins GS, Prevo R, Lee YF, Helleday T, Muschel RJ, Taylor S, Yoshimura M, Hickson ID, Bernhard EJ, McKenna WG: A small interfering RNA screen of genes involved in DNA repair identifies tumor-specific radiosensitization by POLQ knockdown. Cancer Res 2010, 70(7):2984-2993.
22. Muzzini DM, Plevani P, Boulton SJ, Cassata G, Marini F: Caenorhabditis elegans POLQ-1 and HEL-308 function in two distinct DNA interstrand cross-link repair pathways. DNA Repair (Amst) 2008, 7(6):941-950.
23. Lemée F, Bergoglio V, Fernandez-Vidal A, Machado-Silva A, Pillaire MJ, Bieth A, Gentil C, Baker L, Martin AL, Leduc C, Leduc C, Lam E, Magdeleine E, Filleron T, Oumouhou N, Kaina B, Seki M, Grimal F, Lacroix-Triki M, Thompson A, Roché H, Bourdon JC, Wood RD, Hoffmann JS, Cazaux C: DNA polymerase theta up-regulation is associated with poor survival in breast cancer, perturbs DNA replication, and promotes genetic instability. Proc Natl Acad Sci U S A 2010, 107(30):13390-13395.
24. Pillaire MJ, Selves J, Gordien K, Gourraud PA, Gouraud PA, Gentil C, Danjoux M, Do C, Negre V, Bieth A, Guimbaud R, Trouche D, Pasero P, Méchali M, Hoffmann JS, Cazaux C: A 'DNA replication' signature of progression and negative outcome in colorectal cancer. Oncogene 2010, 29(6):876-887.
25. Lessa RC, Campos AH, de Freitas CE, da Silva FR, Kowalski LP, Carvalho AL, Vettore AL: Identification of upregulated genes in oral squamous cell carcinomas. Head Neck 2012, 35(10):1475-1481.
26. Allera-Moreau C, Rouquette I, Lepage B, Oumouhou N, Walschaerts M, Leconte E, Schilling V, Gordien K, Brouchet L, Delisle MB, Honda I, Sakiyama S, Tagawa M, O-Wang J: DNA replication stress response involving PLK1, CDC6, POLQ, RAD51 and CLASPIN upregulation prognoses the outcome of early/mid-stage non-small cell lung cancer patients. Oncogenesis 2012, 1:e30.
27. Kawamura K, Bahar R, Seimiya M, Chiyo M, Wada A, Okada S, Hatano M, Tokuhisa T, Kimura H, Watanabe S, Honda I, Sakiyama S, Tagawa M, O-Wang J: DNA polymerase theta is preferentially expressed in lymphoid tissues and upregulated in human cancers. Int J Cancer 2004, 109(1):9-16.
28. Paskulin DD, Cunha-Filho JS, Souza CA, Bortolini MC, Hainaut P, Ashton-Prolla P: TP53 PIN3 and PEX4 polymorphisms and infertility associated with endometriosis or with post-in vitro fertilization implantation failure. Cell Death Dis 2012, 3:e392.
29. Matta J, Echenique M, Negron E, Morales L, Vargas W, Gaetan FS, Lizardi ER, Torres A, Rosado JO, Bolaños G, Cruz JG, Laboy J, Barnes R, Medina SS, Romero A, Martinez R, Dutil J, Suarez E, Alvarez-Garriga C, Bayona M: The association of DNA repair with breast cancer risk in women. A comparative observational study. BMC Cancer 2012, 12:490.
30. Ukai A, Maruyama T, Mochizuki S, Ouchida R, Masuda K, Kawamura K, Tagawa M, Kinoshita K, Sakamoto A, Tokuhisa T, O-Wang J: Role of DNA polymerase theta in tolerance of endogenous and exogenous DNA damage in mouse B cells. Genes Cells 2006, 11(2):111-121.
31. Shima N, Munroe RJ, Schimenti JC: The mouse genomic instability mutation chaos1 is an allele of Polq that exhibits genetic interaction with Atm. Mol Cell Biol 2004, 24(23):10381-10389.
32. Laurencon A, Orme CM, Peters HK, Boulton CL, Vladar EK, Langley SA, Bakis EP, Harris DT, Harris NJ, Wayson SM, Hawley RS, Burtis KC: A large-scale screen for mutagen-sensitive loci in Drosophila. Genetics 2004, 167(1):217-231.
33. Hogg M, Seki M, Wood RD, Doublié S, Wallace SS: Lesion bypass activity of DNA polymerase θ (POLQ) is an intrinsic property of the pol domain and depends on unique sequence inserts. J Mol Biol 2011, 405(3):642-652.
34. Li Y, Gao X, Wang JY: Comparison of two POLQ mutants reveals that a polymerase-inactive POLQ retains significant function in tolerance to etoposide and γ-irradiation in mouse B cells. Genes Cells 2011, 16(9):973-983.
35. Varadi V, Bevier M, Grzybowska E, Johansson R, Enquist K, Henriksson R, Butkiewicz D, Pamula-Pilat J, Tecza K, Hemminki K, Lenner P, Försti A: Genetic variation in genes encoding for polymerase ζ subunits associates with breast cancer risk, tumour characteristics and survival. Breast Cancer Res Treat 2011, 129(1):235-245.
36. Deniz M, Holzmann K, Wiesmüller L: Functional analysis-make or break for cancer predictability. Mutat Res 2013, 743-744:132-141.
37. Kato M, Yano K, Matsuo F, Saito H, Katagiri T, Kurumizaka H, Yoshimoto M, Kasumi F, Akiyama F, Sakamoto G, Nagawa H, Nakamura Y, Miki Y: Identification of Rad51 alteration in patients with bilateral breast cancer. J Hum Genet 2000, 45(3):133-137.
38. Garcia-Casado Z, Romero I, Fernandez-Serra A, Rubio L, Llopis F, Garcia A, Llombart P, Lopez-Guerrero JA: A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer. BMC Med Genet 2011, 12:134.
39. Kassardjian A, Rizkallah R, Riman S, Renfro SH, Alexander KE, Hurt MM: The transcription factor YY1 is a novel substrate for Aurora B kinase at G2/M transition of the cell cycle. PLoS One 2012, 7(11):e50645.
40. Hwang SS, Kim YU, Lee S, Jang SW, Kim MK, Koh BH, Lee W, Kim J, Souabni A, Busslinger M, Lee GR: Transcription factor YY1 is essential for regulation of the Th2 cytokine locus and for Th2 cell differentiation. Proc Natl Acad Sci U S A 2013, 110(1):276-281.
41. Lee MH, Lahusen T, Wang RH, Xiao C, Xu X, Hwang YS, He WW, Shi Y, Deng CX: Yin Yang 1 positively regulates BRCA1 and inhibits mammary cancer formation. Oncogene 2012, 31(1):116-127.
42. Wu S, Kasim V, Kano MR, Tanaka S, Ohba S, Miura Y, Miyata K, Liu X, Matsuhashi A, Chung UI, Yang L, Kataoka K, Nishiyama N, Miyagishi M: Transcription factor YY1 contributes to tumor growth by stabilizing hypoxia factor HIF-1a in a p53-independent manner. Cancer Res 2013, 73(6):1787-1799.
43. Palko L, Bass HW, Beyrouthy MJ, Hurt MM: The Yin Yang-1 (YY1) protein undergoes a DNA-replication-associated switch in localization from the cytoplasm to the nucleus at the onset of S phase. J Cell Sci 2004, 117(Pt 3):465-476.
44. Wu S, Hu YC, Liu H, Shi Y: Loss of YY1 impacts the heterochromatic state and meiotic double-strand breaks during mouse spermatogenesis. Mol Cell Biol 2009, 29(23):6245-6256.