The G84E mutation in the HOXB13 gene is associated with an increased risk of prostate cancer in Poland

被引：35

作者：

Kluzniak, Wojciech ^{[1
]}

Wokolorczyk, Dominika ^{[1
]}

Kashyap, Aniruddh ^{[1
]}

Jakubowska, Anna ^{[1
]}

Gronwald, Jacek ^{[1
]}

Huzarski, Tomasz ^{[1
]}

Byrski, Tomasz ^{[1
]}

Debniak, Tadeusz ^{[1
]}

Golab, Adam ^{[2
]}

Gliniewicz, Bartlomiej ^{[2
,3
]}

Sikorski, Andrzej ^{[2
]}

Switala, Jerzy ^{[3
]}

Borkowski, Tomasz ^{[4
]}

Borkowski, Andrzej ^{[4
]}

Antczak, Andrzej ^{[5
]}

Wojnar, Lukasz ^{[5
]}

Przybyla, Jacek ^{[6
]}

Sosnowski, Marek ^{[6
]}

Malkiewicz, Bartosz ^{[7
]}

Zdrojowy, Romuald ^{[7
]}

Sikorska-Radek, Paulina ^{[8
]}

Matych, Jozef ^{[8
]}

Wilkosz, Jacek ^{[9
]}

Rozanski, Waldemar ^{[9
]}

Kis, Jacek ^{[10
]}

Bar, Krzysztof ^{[10
]}

Bryniarski, Piotr ^{[11
]}

Paradysz, Andrzej ^{[11
]}

Jersak, Konrad ^{[12
]}

Niemirowicz, Jerzy ^{[12
]}

Slupski, Piotr ^{[13
]}

Jarzemski, Piotr ^{[13
]}

Skrzypczyk, Michal ^{[14
]}

Dobruch, Jakub ^{[14
]}

Domagala, Pawel ^{[15
]}

Akbari, Mohammad R.

Lubinski, Jan ^{[1
]}

Narod, Steven A. ^{[16
]}

Cybulski, Cezary ^{[1
]}

机构：

[1] Pomeranian Med Univ, Dept Genet & Pathol, Int Hereditary Canc Ctr, PL-70115 Szczecin, Poland

[2] Pomeranian Med Univ, Urol Clin, PL-70115 Szczecin, Poland

[3] Maria Sklodowska Curie Hosp, Div Urol, Szczecin, Poland

[4] Med Univ, Dept Urol, Warsaw, Poland

[5] Med Univ, Chair Urol, Poznan, Poland

[6] Med Univ Lodz, Dept Urol, Lodz, Poland

[7] Univ Med, Dept Urol & Urol Oncol, Wroclaw, Poland

[8] Reg Hosp, Div Urol, Lodz, Poland

[9] Med Univ Lodz, Dept Urol 2, Lodz, Poland

[10] Univ Hosp Lublin, Dept Urol, Lublin, Poland

[11] Med Univ Silesia, Dept Urol, Zabrze, Poland

[12] Minist Internal Affairs & Adm Hosp, Dept Urol, Lodz, Poland

[13] J Biziel Hosp, Dept Urol, Bydgoszcz, Poland

[14] Ctr Postgrad Urol Educ, Dept Urol, Warsaw, Poland

[15] Pomeranian Med Univ, Dept Pathol, PL-70115 Szczecin, Poland

[16] Ctr Res Womens Hlth, Toronto, ON, Canada

来源：

PROSTATE | 2013年 / 73卷 / 05期

关键词：

G84E mutation; HOXB13; prostate cancer; GERMLINE MUTATIONS; SUSCEPTIBILITY GENE; ASHKENAZI-JEWS; BRCA2; CHEK2; MEN; HPC2/ELAC2; VARIANTS; LINKAGE; IMPACT;

D O I：

10.1002/pros.22594

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

BACKGROUND The G84E mutation in the HOXB13 gene has been associated with a high lifetime risk of prostate cancer in North America (about 20-fold). The geographical and ethnic extent of this recurrent allele has not yet been determined. METHODS We assayed for the presence of the G84E mutation in 3,515 prostate cancer patients and 2,604 controls from Poland and estimated the odds ratio for prostate cancer associated with the allele. RESULTS The G84E mutation was detected in 3 of 2,604 (0.1%) individuals from the general population in Poland and in 20 of 3,515 (0.6%) men with prostate cancer (Odds ratio [OR]=5.0; 95% CI: 1.516.7; P=0.008). The allele was present in 4 of 416 (1.0%) men with familial prostate cancer (OR=8.4, 95% CI: 1.937.7; P=0.005). CONCLUSIONS The G84E mutation predisposes to prostate cancer in Poland, but accounts for only a small proportion of cases. We expect that the G84E founder mutation might be present in other Slavic populations. Prostate 73: 542548, 2013. (c) 2013 Wiley Periodicals, Inc.

引用

页码：542 / 548

页数：7

共 25 条

[1] Association Between Germline HOXB13 G84E Mutation and Risk of Prostate Cancer [J].

Akbari, Mohammad R. ;

Trachtenberg, John ;

Lee, Justin ;

Tam, Stephanie ;

Bristow, Robert ;

Loblaw, Andrew ;

Narod, Steven A. ;

Nam, Robert K. .

JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2012, 104 (16) :1260-1262

[2] Confirmation of the HOXB13 G84E Germline Mutation in Familial Prostate Cancer [J].

Breyer, Joan P. ;

Avritt, T. Grant ;

McReynolds, Kate M. ;

Dupont, William D. ;

Smith, Jeffrey R. .

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2012, 21 (08) :1348-1353

[3] Germline mutations in the ribonuclease L gene in families showing linkage with HPC1 [J].

Carpten, J ;

Nupponen, N ;

Isaacs, S ;

Sood, R ;

Robbins, C ;

Xu, J ;

Faruque, M ;

Moses, T ;

Ewing, C ;

Gillanders, E ;

Hu, P ;

Buinovszky, 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 .

NATURE GENETICS, 2002, 30 (02) :181-184

[4] A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer [J].

Cybulski, C. ;

Wokolorczyk, D. ;

Huzarski, T. ;

Byrski, T. ;

Gronwald, J. ;

Gorski, B. ;

Debniak, T. ;

Masojc, B. ;

Jakubowska, A. ;

Gliniewicz, B. ;

Sikorski, A. ;

Stawicka, M. ;

Godlewski, D. ;

Kwias, Z. ;

Antczak, A. ;

Krajka, K. ;

Lauer, W. ;

Sosnowski, M. ;

Sikorska-Radek, P. ;

Bar, K. ;

Klijer, R. ;

Zdrojowy, R. ;

Malkiewicz, B. ;

Borkowski, A. ;

Borkowski, T. ;

Szwiec, M. ;

Narod, S. A. ;

Lubinski, J. .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (11) :863-866

[5] NBS1 is a prostate cancer susceptibility gene [J].

Cybulski, C ;

Górski, B ;

Debniak, T ;

Gliniewicz, B ;

Mierzejewski, M ;

Masojc, B ;

Jakubowska, A ;

Matyjasik, J ;

Zlowocka, E ;

Sikorski, A ;

Narod, SA ;

Lubinski, J .

CANCER RESEARCH, 2004, 64 (04) :1215-1219

[6] CHEK2 is a multiorgan cancer susceptibility gene [J].

Cybulski, C ;

Górski, B ;

Huzarski, T ;

Masojc, B ;

Mierzejewski, M ;

Debniak, T ;

Teodorczyk, U ;

Byrski, T ;

Gronwald, J ;

Matyjasik, J ;

Zlowocka, E ;

Lenner, M ;

Grabowska, E ;

Nej, K ;

Castaneda, J ;

Medrek, K ;

Szymanska, A ;

Szymanska, J ;

Kurzawski, G ;

Suchy, J ;

Oszurek, O ;

Witek, A ;

Narod, SA ;

Lubinski, J .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (06) :1131-1135

[7] Mutations in CHEK2 associated with prostate cancer risk [J].

Dong, XY ;

Wang, L ;

Taniguchi, K ;

Wang, XS ;

Cunningham, JM ;

McDonnell, SK ;

Qian, CP ;

Marks, AF ;

Slager, SL ;

Peterson, BJ ;

Smith, BI ;

Cheville, JC ;

Blute, ML ;

Jacobsen, SJ ;

Schaid, DJ ;

Tindall, DJ ;

Thibodeau, SN ;

Liu, WG .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (02) :270-280

[8] Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene [J].

Edwards, SM ;

Kote-Jarai, Z ;

Meitz, J ;

Hamoudi, R ;

Hope, Q ;

Osin, P ;

Jackson, R ;

Southgate, C ;

Singh, R ;

Falconer, A ;

Dearnaley, DP ;

Ardern-Jones, A ;

Murkin, A ;

Dowe, A ;

Kelly, J ;

Williams, S ;

Oram, R ;

Stevens, M ;

Teare, DM ;

Ponder, BAJ ;

Gayther, SA ;

Easton, DF ;

Eeles, RA .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (01) :1-12

[9] Germline Mutations in HOXB13 and Prostate-Cancer Risk [J].

Ewing, Charles M. ;

Ray, Anna M. ;

Lange, Ethan M. ;

Zuhlke, Kimberly A. ;

Robbins, Christiane M. ;

Tembe, Waibhav D. ;

Wiley, Kathleen E. ;

Isaacs, Sarah D. ;

Johng, Dorhyun ;

Wang, Yunfei ;

Bizon, Chris ;

Yan, Guifang ;

Gielzak, Marta ;

Partin, Alan W. ;

Shanmugam, Vijayalakshmi ;

Izatt, Tyler ;

Sinari, Shripad ;

Craig, David W. ;

Zheng, S. Lilly ;

Walsh, Patrick C. ;

Montie, James E. ;

Xu, Jianfeng ;

Carpten, John D. ;

Isaacs, William B. ;

Cooney, Kathleen A. .

NEW ENGLAND JOURNAL OF MEDICINE, 2012, 366 (02) :141-149

[10] Population screening for cancer family syndromes in the West Pomeranian Region of Poland [J].

Gronwald J. ;

Raczyński A. ;

Tarhoni M. ;

Blachowski M. ;

Huzarski T. ;

Byrski T. ;

Tołczko-Grabarek A. ;

Dȩbniak T. ;

Cybulski C. ;

Huzarska J. ;

Oszurek O. ;

Lubiński J. .

Hereditary Cancer in Clinical Practice, 4 (1) :56

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