Selected aspects of inherited susceptibility to prostate cancer and tumours of different site of origin

Hereditary Cancer in Clinical Practice

Cezary Cybulski¹ 

[1] Katedra Patologii, Pomorska Akademia Medyczna, Szczecin

关键词: NBS1;    CHEK2;    BRCA2;    BRCA1;    DNA;    prostate cancer;   

Others  :  810751
DOI  :  10.1186/1897-4287-5-3-164

 received in 2007-08-08, accepted in 2007-09-04,  发布年份 2007

【 摘 要 】

Epidemiologic research conducted over the last two decades has led us to believe that inherited factors play an important role in the aetiology of prostate cancer, but the genes which underlie the inherited susceptibility are elusive. The most compelling associations to date are with genes involved in DNA damage repair, including BRCA2. In Poland we have initiated a programme to identify DNA variants which confer an increased risk of prostate cancer and other cancers. Here we review our recent results. We found that germline mutations in BRCA1, CHEK2 and NBS1 confer an increased prostate cancer risk in Polish men. We provide evidence that CHEK2 is a multi-organ cancer susceptibility gene. We show that inherited variation in RNASEL and MSR1 genes do not contribute to prostate cancer development in Poland.

   

【 图 表 】

Figure 1.

Figure 2.

Figure 3.

【 参考文献 】

• [1]Lynch HT, Shaw TG, Lynch JF: Inherited predisposition to cancer: a historical overview. Am J Med Genet C Semin Med Genet 2004, 129:5-22.
• [2]Shiao YH: The von Hippel-Lindau gene and protein in tumorigenesis and angiogenesis: a potential target for therapeutic designs. Curr Med Chem 2003, 10:2461-2470.
• [3]Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, Taite H, Scoular R, Miller A, Reeve AE: E-cadherin germline mutations in familial gastric cancer. Nature 1998, 392:402-405.
• [4]Reszka E, Wasowicz W, Gromadzinska J: Genetic polymorphism of xenobiotic metabolising enzymes, diet and cancer susceptibility. Br J Nutr 2006, 96:609-619.
• [5]Kurzawski G, Suchy J, Kladny J, Grabowska E, Mierzejewski M, Jakubowska A, Debniak T, Cybulski C, Kowalska E, Szych Z, Domagala W, Scott RJ, Lubinski J: The NOD2 3020insC mutation and the risk of colorectal cancer. Cancer Res 2004, 64:1604-1606.
• [6]Ylisaukko-Oja SK, Cybulski C, Lehtonen R, Kiuru M, Matyjasik J, Szymañska A, Szymańska-Pasternak J, Dyrskjot L, Butzow R, Orntoft TF, Launonen V, Lubiński J, Aaltonen LA: Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma. Eur J Hum Genet 2006, 14:880-883.
• [7]Goode EL, Ulrich CM, Potter JD: Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev 2002, 11:1513-1530.
• [8]Debniak T, Scott RJ, Huzarski T, Byrski T, Masojc B, Wetering T, Serrano-Fernandez P, Górski B, Cybulski C, Gronwald J, Debniak B, Maleszka R, Kładny J, Bieniek A, Nagay L, Haus O, Grzybowska E, Wandzel P, Niepsuj S, Narod SA, Lubinski J: XPD common variants and their association with melanoma and breast cancer risk. Breast Cancer Res Treat 2006, 98:209-215.
• [9]Steinberg GD, Carter BS, Beaty TH, Childs B, Walsh PC: Family history and the risk of prostate cancer. Prostate 1990, 17:337-347.
• [10]Carter BS, Beaty TH, Steinberg GD, Childs B, Walsh PC: Mendelian inheritance of familial prostate cancer. Proc Natl Acad Sci USA 1992, 89:3367-3371.
• [11]Orr-Urtreger A, Bar-Shira A, Bercovich D, Matarasso N, Rozovsky U, Rosner S, Soloviov S, Rennert G, Kadouri L, Hubert A, Rennert H, Matzkin H: RNASEL mutation screening and association study in Ashkenazi and non-Ashkenazi prostate cancer patients. Cancer Epidemiol Biomarkers Prev 2006, 15:474-479.
• [12]Sun J, Hsu FC, Turner AR, Zheng SL, Chang BL, Liu W, Isaacs WB, Xu J: Meta-analysis of association of rare mutations and common sequence variants in the MSR1 gene and prostate cancer risk. Prostate 2006, 66:728-737.
• [13]Dong JT: Prevalent mutations in prostate cancer. J Cell Biochem 2006, 97:433-447.
• [14]Kibel AS, Suarez BK, Belani J, Oh J, Webster R, Brophy-Ebbers M, Guo C, Catalona WJ, Picus J, Goodfellow PJ: CDKN1A and CDKN1B polymorphisms and risk of advanced prostate carcinoma. Cancer Res 2003, 63:2033-2036.
• [15]Angèle S, Falconer A, Edwards SM, Dörk T, Bremer M, Moullan N, Chapot B, Muir K, Houlston R, Norman AR, Bullock S, Hope Q, Meitz J, Dearnaley D, Dowe A, Southgate C, Ardern-Jones A, Easton DF, Eeles RA, Hall J: ATM polymorphisms as risk factors for prostate cancer development. Br J Cancer 2004, 91:783-787.
• [16]Rybicki BA, Conti DV, Moreira A, Cicek M, Casey G, Witte JS: DNA repair gene XRCC1 and XPD polymorphisms and risk of prostate cancer. Cancer Epidemiol Biomarkers Prev 2004, 13:23-29.
• [17]Carpten J, Nupponen N, Isaacs S, Sood R, Robbins C, Xu J, Faruque M, Moses T, Ewing C, Gillanders E, Hu P, Bujnovszky P, Makalowska I, Baffoe-Bonnie A, Faith D, Smith J, Stephan D, Wiley K, Brownstein M, Gildea D, Kelly B, Jenkins R, Hostetter G, Matikainen M, Schleutker J, Klinger K, Connors T, Xiang Y, Wang Z, De Marzo A, Papadopoulos N, Kallioniemi OP, Burk R, Meyers D, Grönberg H, Meltzer P, Silverman R, Bailey-Wilson J, Walsh P, Isaacs W, Trent J: Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nat Genet 2002, 30:181-184.
• [18]Casey G, Neville PJ, Plummer SJ, Xiang Y, Krumroy LM, Klein EA, Catalona WJ, Nupponen N, Carpten JD, Trent JM, Silverman RH, Witte JS: RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. Nat Genet 2002, 32:581-583.
• [19]Xu J, Zheng SL, Komiya A, Mychaleckyj JC, Isaacs SD, Hu JJ, Sterling D, Lange EM, Hawkins GA, Turner A, Ewing CM, Faith DA, Johnson JR, Suzuki H, Bujnovszky P, Wiley KE, DeMarzo AM, Bova GS, Chang B, Hall MC, McCullough DL, Partin AW, Kassabian VS, Carpten JD, Bailey-Wilson JE, Trent JM, Ohar J, Bleecker ER, Walsh PC, Isaacs WB, Meyers DA: Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk. Nat Genet 2002, 32:321-325.
• [20]Futaki M, Liu JM: Chromosome breakage syndromes and the BRCA1 genome surveillance complex. Trends Mol Med 2001, 7:560-565.
• [21]Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A: Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 1998, 93:467-476.
• [22]Voelkel-Johnson C, Voeks DJ, Greenberg NM, Barrios R, Maggouta F, Kurtz DT, Schwartz DA, Keller GM, Papenbrock T, Clawson GA, Norris JS: Genomic instability-based transgenic models of prostate cancer. Carcinogenesis 2000, 21:1623-1627.
• [23]Fan Z, Chakravarty P, Alfieri A, Pandita TK, Vikram B, Guha C: Adenovirus-mediated antisense ATM gene transfer sensitizes prostate cancer cells to radiation. Cancer Gene Ther 2000, 7:1307-1314.
• [24]Steffen J, Varon R, Mosor M, Maneva G, Maurer M, Stumm M, Nowakowska D, Rubach M, Kosakowska E, Ruka W, Nowecki Z, Rutkowski P, Demkow T, Sadowska M, Bidziński M, Gawrychowski K, Sperling K: Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. Int J Cancer 2004, 111:67-71.
• [25]Steffen J, Nowakowska D, Niwińska A, Czapczak D, Kluska A, Piatkowska M, Wiśniewska A, Paszko Z: Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer 2006, 119:472-475.
• [26]Gorski B, Debniak T, Masojc B, Mierzejewski M, Medrek K, Cybulski C, Jakubowska A, Kurzawski G, Chosia M, Scott R, Lubinski J: Germline 657del5 mutation in the NBS1 gene in breast cancer patients. Int J Cancer 2003, 106:379-381.
• [27]Górski B, Byrski T, Huzarski T, Jakubowska A, Menkiszak J, Gronwald J, Pluzańska A, Bebenek M, Fischer-Maliszewska L, Grzybowska E, Narod SA, Lubiński J: Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet 2000, 66:1963-1968.
• [28]Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, Timmerman MM, Brody LC, Tucker MA: The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997, 336:1401-1408.
• [29]Warner E, Foulkes W, Goodwin P, Meschino W, Blondal J, Paterson C, Ozcelik H, Goss P, Allingham-Hawkins D, Hamel N, Di Prospero L, Contiga V, Serruya C, Klein M, Moslehi R, Honeyford J, Liede A, Glendon G, Brunet JS, Narod S: Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst 1999, 91:1241-1247.
• [30]Giusti RM, Rutter JL, Duray PH, Freedman LS, Konichezky M, Fisher-Fischbein J, et al.: A twofold increase in BRCA mutation related prostate cancer among Ashkenazi Israelis is not associated with distinctive histopathology. J Med Genet 2003, 40:787-792.
• [31]Thompson D, Easton DF, Breast Cancer Linkage Consortium: Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst 2002, 94:1358-1365.
• [32]Sinclair CS, Berry R, Schaid D, Thibodeau SN, Couch FJ: BRCA1 and BRCA2 have limited a role in familial prostate cancer. Cancer Res 2000, 60:1371-1375.
• [33]Ikonen T, Matikainen MP, Syrjäkoski K, Mononen N, Koivisto PA, Rökman A, Seppälä EH, Kallioniemi OP, Tammela TL, Schleutker J: BRCA1 and BRCA2 mutations have no major role in predisposition to prostate cancer in Finland. J Med Genet 2003, 40:e98.
• [34]Zuhlke KA, Madeoy JJ, Beebe-Dimmer J, White KA, Griffin A, Lange EM, Gruber SB, Ostrander EA, Cooney KA: Truncating BRCA1 mutations are uncommon in a cohort of hereditary prostate cancer families with evidence of linkage to 17q markers. Clin Cancer Res 2004, 10:5975-5980.
• [35]Dong X, Wang L, Taniguchi K, Wang X, Cunningham JM, McDonnell SK, Qian C, Marks AF, Slager SL, Peterson BJ, Smith DI, Cheville JC, Blute ML, Jacobsen SJ, Schaid DJ, Tindall DJ, Thibodeau SN, Liu W: Mutations in CHEK2 associated with prostate cancer risk. Am J Hum Genet 2003, 72:270-280.
• [36]Kilpivaara O, Alhopuro P, Vahteristo P, Aaltonen LA, Nevanlinna H: CHEK2 I157T associates with familial and sporadic colorectal cancer. J Med Genet 2006, 43:e34.
• [37]Shaag A, Walsh T, Renbaum P, Kirchhoff T, Nafa K, Shiovitz S, Mandell JB, Welcsh P, Lee MK, Ellis N, Offit K, Levy-Lahad E, King MC: Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Hum Mol Genet 2005, 14:555-563.
• [38]Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell J, Lee MK, Ciernikova S, Foretova L, Soucek P, King MC: Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 2006, 295:1379-1388.
• [39]Seppälä EH, Ikonen T, Mononen N, Autio V, Rökman A, Matikainen MP, Tammela TL, Schleutker J: CHEK2 variants associate with hereditary prostate cancer. Br J Cancer 2003, 89:1966-1970.
• [40]CHEK2 Breast Cancer Consortium: Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002, 31:55-59.
• [41]Oldenburg RA, Kroeze-Jansema K, Kraan J, Morreau H, Klijn JG, Hoogerbrugge N, Ligtenberg MJ, van Asperen CJ, Vasen HF, Meijers C, Meijers-Heijboer H, de Bock TH, Cornelisse CJ, Devilee P: The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families. Cancer Res 2003, 63:8153-8157.
• [42]Vahteristo P, Bartkova J, Eerola H, Syrjakoski K, Ojala S, Kilpivaara O, et al.: A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 2002, 71:432-438.
• [43]CHEK2 Breast Cancer Case-Control Consortium: CHEK2*1100delC 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 2004, 74:1175-1182.
• [44]Kilpivaara O, Vahteristo P, Falck J, Syrjäkoski K, Eerola H, Easton D, Bartkova J, Lukas J, Heikkilä P, Aittomäki K, Holli K, Blomqvist C, Kallioniemi OP, Bartek J, Nevanlinna H: CHEK2 variant I157T may be associated with increased breast cancer risk. Int J Cancer 2004, 111:543-547.
• [45]Bogdanova N, Enssen-Dubrowinskaja N, Feshchenko S, Lazjuk GI, Rogov YI, Dammann O, Bremer M, Karstens JH, Sohn C, Dörk T: Association of two mutations in the CHEK2 gene with breast cancer. Int J Cancer 2005, 116:263-266.
• [46]Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA: Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 1999, 286:2528-2531.
• [47]Vahteristo P, Tamminen A, Karvinen P, Eerola H, Eklund C, Aaltonen LA, Blomqvist C, Aittomäki K, Nevanlinna H: p53, CHK2, and CHK1 genes in finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. Cancer Res 2001, 61:5718-5722.
• [48]de Bock GH, Schutte M, Krol-Warmerdam EM, Seynaeve C, Blom J, Brekelmans CT, Meijers-Heijboer H, van Asperen CJ, Cornelisse CJ, Devilee P, Tollenaar RA, Klijn JG: Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. J Med Genet 2004, 41:731-735.
• [49]Broeks A, de Witte L, Nooijen A, Huseinovic A, Klijn JG, van Leeuwen FE, Russell NS, van't Veer LJ: Excess risk for contralateral breast cancer in CHEK2*1100delC germline mutation carriers. Breast Cancer Res Treat 2004, 83:91-93.