Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer

Familial Cancer

Volumn 11, Issue 4, 2012, Pages 595-600

  Zuhlke, Kimberly A ^a   Johnson, Anna M ^a   Okoth, Linda A ^a   Stoffel, Elena M ^a   Robbins, Christiane M ^b   Tembe, Waibov A ^b   Salinas, Claudia A ^a   Zheng, S Lilly ^c   Xu, Jianfeng ^c   Carpten, John D ^b   Lange, Ethan M ^d   Isaacs, William B ^e   Cooney, Kathleen A ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^c WAKE FOREST SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF NORTH CAROLINA   (United States)

^e JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

Cancer; Hereditary; NBN gene; Prostate

Indexed keywords

NIBRIN;

ADULT; ARTICLE; BINDING SITE; CANCER RISK; CANCER SUSCEPTIBILITY; CHROMOSOME 8Q; CLINICAL FEATURE; CONTROLLED STUDY; DNA REPAIR; DNA SEQUENCE; DOUBLE STRANDED DNA BREAK; EXON; FACE DYSMORPHIA; FAMILIAL CANCER; GENE DELETION; GENE MUTATION; GENE SEGREGATION; GENETIC RECOMBINATION; GENETIC STABILITY; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; IMMUNE DEFICIENCY; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; NIJMEGEN BREAKAGE SYNDROME; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; PROSTATE CANCER; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; UNTRANSLATED REGION;

ADULT; AMINO ACID SEQUENCE; CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; DNA PRIMERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PROGNOSIS; PROSTATIC NEOPLASMS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84870435805     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-012-9555-1     Document Type: Article

References (30)

1. Siegel R, Naishadham D, Jemal A (2012) Cancer statistics, 2012. CA Cancer J Clin 62(1):10-29. doi:10.3322/caac.20138
2. Carter BS, Beaty TH, Steinberg GD, Childs B, Walsh PC (1992) Mendelian inheritance of familial prostate cancer. Proc Natl Acad Sci USA 89(8):3367-3371
3. Schaid DJ, McDonnell SK, Blute ML, Thibodeau SN (1998) Evidence for autosomal dominant inheritance of prostate cancer. Am J Hum Genet 62(6):1425-1438. doi:10.1086/301862 (Pubitemid 28307112)
4. Gronberg H, Damber L, Damber JE, Iselius L (1997) Segregation analysis of prostate cancer in Sweden: support for dominant inheritance. Am J Epidemiol 146(7):552-557 (Pubitemid 28027254)
5. Smith JR, Freije D, Carpten JD, Gronberg H, Xu J, Isaacs SD, Brownstein MJ, Bova GS, Guo H, Bujnovszky P, Nusskern DR, Damber JE, Bergh A, Emanuelsson M, Kallioniemi OP, Walker-Daniels J, Bailey-Wilson JE, Beaty TH, Meyers DA, Walsh PC, Collins FS, Trent JM, Isaacs WB (1996) Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search. Science 274(5291):1371-1374 (Pubitemid 26391460)
6. Xu J, Meyers D, Freije D, Isaacs S, Wiley K, Nusskern D, Ewing C, Wilkens E, Bujnovszky P, Bova GS, Walsh P, Isaacs W, Schleutker J, Matikainen M, Tammela T, Visakorpi T, Kallioniemi OP, Berry R, Schaid D, French A, McDonnell S, Schroeder J, Blute M, Thibodeau S, Gronberg H, Emanuelsson M, Damber JE, Bergh A, Jonsson BA, Smith J, Bailey-Wilson J, Carpten J, Stephan D, Gillanders E, Amundson I, Kainu T, Freas-Lutz D, Baffoe-Bonnie A, Van Aucken A, Sood R, Collins F, Brownstein M, Trent J (1998) Evidence for a prostate cancer susceptibility locus on the X chromosome. Nat Genet 20(2):175-179. doi: 10.1038/2477 (Pubitemid 28455451)
7. Berry R, Schroeder JJ, French AJ, McDonnell SK, Peterson BJ, Cunningham JM, Thibodeau SN, Schaid DJ (2000) Evidence for a prostate cancer-susceptibility locus on chromosome 20. Am J Hum Genet 67(1):82-91. doi:10.1086/302994 (Pubitemid 30481546)
8. Thomas G, Jacobs KB, Yeager M, Kraft P, Wacholder S, Orr N, Yu K, Chatterjee N, Welch R, Hutchinson A, Crenshaw A, Cancel-Tassin G, Staats BJ, Wang Z, Gonzalez-Bosquet J, Fang J, Deng X, Berndt SI, Calle EE, Feigelson HS, Thun MJ, Rodriguez C, Albanes D, Virtamo J, Weinstein S, Schumacher FR, Giovannucci E, Willett WC, Cussenot O, Valeri A, Andriole GL, Crawford ED, Tucker M, Gerhard DS, Fraumeni JF Jr, Hoover R, Hayes RB, Hunter DJ, Chanock SJ (2008) Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet 40(3):310-315. doi:10.1038/ng.91 (Pubitemid 351311773)
9. Eeles RA, Kote-Jarai Z, Al Olama AA, Giles GG, Guy M, Severi G, Muir K, Hopper JL, Henderson BE, Haiman CA, Schleutker J, Hamdy FC, Neal DE, Donovan JL, Stanford JL, Ostrander EA, Ingles SA, John EM, Thibodeau SN, Schaid D, Park JY, Spurdle A, Clements J, Dickinson JL, Maier C, Vogel W, Dork T, Rebbeck TR, Cooney KA, Cannon-Albright L, Chappuis PO, Hutter P, Zeegers M, Kaneva R, Zhang HW, Lu YJ, Foulkes WD, English DR, Leongamornlert DA, Tymrakiewicz M, Morrison J, Ardern-Jones AT, Hall AL, O'Brien LT, Wilkinson RA, Saunders EJ, Page EC, Sawyer EJ, Edwards SM, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker CC, Van As N, Woodhouse CJ, Thompson A, Christmas T, Ogden C, Cooper CS, Southey MC, Lophatananon A, Liu JF, Kolonel LN, Le Marchand L, Wahlfors T, Tammela TL, Auvinen A, Lewis SJ, Cox A, FitzGerald LM, Koopmeiners JS, Karyadi DM, Kwon EM, Stern MC, Corral R, Joshi AD, Shahabi A, McDonnell SK, Sellers TA, Pow-Sang J, Chambers S, Aitken J, Gardiner RA, Batra J, Kedda MA, Lose F, Polanowski A, Patterson B, Serth J, Meyer A, Luedeke M, Stefflova K, Ray AM, Lange EM, Farnham J, Khan H, Slavov C, Mitkova A, Cao G, Easton DF (2009) Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet 41(10):1116-1121. doi:10.1038/ng.450
10. Kote-Jarai Z, Olama AA, Giles GG, Severi G, Schleutker J, Weischer M, Campa D, Riboli E, Key T, Gronberg H, Hunter DJ, Kraft P, Thun MJ, Ingles S, Chanock S, Albanes D, Hayes RB, Neal DE, Hamdy FC, Donovan JL, Pharoah P, Schumacher F, Henderson BE, Stanford JL, Ostrander EA, Sorensen KD, Dork T, Andriole G, Dickinson JL, Cybulski C, Lubinski J, Spurdle A, Clements JA, Chambers S, Aitken J, Gardiner RA, Thibodeau SN, Schaid D, John EM, Maier C, Vogel W, Cooney KA, Park JY, Cannon-Albright L, Brenner H, Habuchi T, Zhang HW, Lu YJ, Kaneva R, Muir K, Benlloch S, Leongamornlert DA, Saunders EJ, Tymrakiewicz M, Mahmud N, Guy M, O'Brien LT, Wilkinson RA, Hall AL, Sawyer EJ, Dadaev T, Morrison J, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker CC, Van As N, Woodhouse CJ, Thompson A, Christmas T, Ogden C, Cooper CS, Lophatonanon A, Southey MC, Hopper JL, English DR, Wahlfors T, Tammela TL, Klarskov P, Nordestgaard BG, Roder MA, Tybjaerg-Hansen A, Bojesen SE, Travis R, Canzian F, Kaaks R, Wiklund F, Aly M, Lindstrom S, Diver WR, Gapstur S, Stern MC, Corral R, Virtamo J, Cox A, Haiman CA, Le Marchand L, Fitzgerald L, Kolb S, Kwon EM, Karyadi DM, Orntoft TF, Borre M, Meyer A, Serth J, Yeager M, Berndt SI, Marthick JR, Patterson B, Wokolorczyk D, Batra J, Lose F, McDonnell SK, Joshi AD, Shahabi A, Rinckleb AE, Ray A, Sellers TA, Lin HY, Stephenson RA, Farnham J, Muller H, Rothenbacher D, Tsuchiya N, Narita S, Cao GW, Slavov C, Mitev V, Easton DF, Eeles RA (2011) Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. Nat Genet 43(8):785-791. doi:10.1038/ng.882ng.882
11. Weemaes CM, Hustinx TW, Scheres JM, van Munster PJ, Bakkeren JA, Taalman RD (1981) A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand 70(4):557-564 (Pubitemid 11078625)
12. Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanova E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A (1998) Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93(3):467-476. doi:S0092-8674(00)81174-5 (Pubitemid 28232090)
13. Antoccia A, Kobayashi J, Tauchi H, Matsuura S, KomatsuK(2006) Nijmegen breakage syndrome and functions of the responsible protein, NBS1. Genome Dyn 1:191-205. doi:10.1159/000092508
14. Seemanova E (1990) An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability. Mutat Res 238(3):321-324
15. Ewing CM, Ray AM, Lange EM, Zuhlke KA, Robbins CM, Tembe WD, Wiley KE, Isaacs SD, Johng D, Wang Y, Bizon C, Yan G, Gielzak M, Partin AW, Shanmugam V, Izatt T, Sinari S, Craig DW, Zheng SL, Walsh PC, Montie JE, Xu J, Carpten JD, Isaacs WB, Cooney KA (2012) Germline mutations in HOXB13 and prostate-cancer risk. N Engl J Med 366(2):141-149. doi: 10.1056/NEJMoa1110000
16. Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R (2009) The sequence alignment/map format and SAMtools. Bioinformatics 25(16):2078-2079. doi:10.1093/bioinformatics/btp352
17. Cybulski C, Gorski B, Debniak T, Gliniewicz B, Mierzejewski M, Masojc B, Jakubowska A, Matyjasik J, Zlowocka E, Sikorski A, Narod SA, Lubinski J (2004) NBS1 is a prostate cancer susceptibility gene. Cancer Res 64(4):1215-1219 (Pubitemid 38235583)
18. Hebbring SJ, Fredriksson H, White KA, Maier C, Ewing C, McDonnell SK, Jacobsen SJ, Cerhan J, Schaid DJ, Ikonen T, Autio V, Tammela TL, Herkommer K, Paiss T, Vogel W, Gielzak M, Sauvageot J, Schleutker J, Cooney KA, Isaacs W, Thibodeau SN (2006) Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer. Cancer Epidemiol Biomarkers Prev 15(5):935-938. doi:10.1158/1055-9965.EPI-05-0910
19. Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR 3rd, Hays L, Morgan WF, Petrini JH (1998) The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93(3):477-486. doi:S0092-8674(00)81175-7 (Pubitemid 28232091)
20. Bork P, Hofmann K, Bucher P, Neuwald AF, Altschul SF, Koonin EV (1997) A superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins. Faseb J 11(1):68-76
21. Callebaut I, Mornon JP (1997) From BRCA1 to RAP1: a widespread BRCT module closely associated with DNA repair. FEBS Lett 400(1):25-30. doi:S0014-5793(96)01312-9 (Pubitemid 27046815)
22. Becker E, Meyer V, Madaoui H, Guerois R (2006) Detection of a tandem BRCT in Nbs1 and Xrs2 with functional implications in the DNA damage response. Bioinformatics 22(11):1289-1292. doi:10.1093/bioinformatics/btl075 (Pubitemid 43985262)
23. Lim DS, Kim ST, Xu B, Maser RS, Lin J, Petrini JH, Kastan MB (2000) ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway. Nature 404(6778):613-617. doi:10.1038/35007091 (Pubitemid 30205060)
24. Desai-Mehta A, Cerosaletti KM, Concannon P (2001) Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization. Mol Cell Biol 21(6):2184-2191. doi:10.1128/MCB.21.6.2184-2191.2001 (Pubitemid 32479638)
25. Falck J, Coates J, Jackson SP (2005) Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage. Nature 434(7033):605-611. doi:10.1038/nature03442 (Pubitemid 40488547)
26. Bennardo N, Stark JM (2010) ATM limits incorrect end utilization during non-homologous end joining of multiple chromosome breaks. PLoS Genet 6(11):e1001194. doi:10.1371/journal.pgen. 1001194
27. Berger AH, Pandolfi PP (2011) Haplo-insufficiency: a driving force in cancer. J Pathol 223(2):137-146. doi:10.1002/path.2800
28. Liede A, Karlan BY, Narod SA (2004) Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol 22(4):735-742. doi:10.1200/JCO. 2004.05.055JCO.2004.05.055 (Pubitemid 41095079)
29. Kote-Jarai Z, Jugurnauth S, Mulholland S, Leongamornlert DA, Guy M, Edwards S, Tymrakiewitcz M, O'Brien L, Hall A, Wilkinson R, Al Olama AA, Morrison J, Muir K, Neal D, Donovan J, Hamdy F, Easton DF, Eeles R (2009) A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer. Br J Cancer 100(2):426-430. doi:10.1038/sj.bjc.6604847
30. Fong PC, Boss DS, Yap TA, Tutt A, Wu P, Mergui-Roelvink M, Mortimer P, Swaisland H, Lau A, O'Connor MJ, Ashworth A, Carmichael J, Kaye SB, Schellens JH, de Bono JS (2009) Inhibition of poly (ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 361(2):123-134. doi:10.1056/NEJMoa0900212