BRCA1 promoter methylation in peripheral blood cells is associated with increased risk of breast cancer with BRCA1 promoter methylation

被引:89
作者
Iwamoto, Takashi [1 ]
Yamamoto, Noriaki [1 ,2 ]
Taguchi, Tetsuya [1 ]
Tamaki, Yasuhiro [1 ]
Noguchi, Shinzaburo [1 ]
机构
[1] Osaka Univ, Dept Breast & Endocrine Surg, Grad Sch Med, Suita, Osaka 5650871, Japan
[2] Sysmex Corp, Cent Res Labs, Kobe, Hyogo, Japan
关键词
Breast cancer; BRCA1; Methylation; Peripheral blood cells; SPORADIC BREAST; OVARIAN-CANCER; FAMILIAL BREAST; MUTATIONAL ANALYSIS; TUMOR-CELLS; DNA-REPAIR; GENE; EXPRESSION; HYPERMETHYLATION; CARRIERS;
D O I
10.1007/s10549-010-1188-1
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
BRCA1 promoter methylation reportedly plays an important part in the pathogenesis of human breast cancer. In the present study, we investigated whether or not BRCA1 promoter methylation in peripheral blood cells (PBCs) can serve as a risk factor for developing breast cancer. The association of BRCA1 promoter methylation in PBCs with breast cancer risk was examined in a case-control study (200 breast cancer patients and 200 controls). BRCA1 promoter methylation in PBCs and breast tumors was determined with a methylation-specific quantitative PCR assay. BRCA1 promoter methylation in PBCs was seen in 43 (21.5%) of the breast cancer patients and in 27 (13.5%) of the controls. The odds ratio for breast cancer adjusted for other epidemiological risk factors was 1.73 (1.01-2.96) and was statistically significant (P = 0.045). When breast tumors were classified into those with and without BRCA1 promoter methylation, the odds ratio was 0.84 (0.43-1.64) (P = 0.61) for BRCA1 promoter methylation-negative and 17.78 (6.71-47.13) (P < 0.001) for BRCA1 promoter methylation-positive breast tumors. BRCA1 promoter methylation in PBCs is significantly associated with risk of breast cancer with BRCA1 promoter methylation. This seems to indicate that BRCA1 promoter methylation in PBCs may constitute a novel risk factor for breast cancer with BRCA1 promoter methylation.
引用
收藏
页码:69 / 77
页数:9
相关论文
共 51 条
[11]  
EASTON DF, 1993, AM J HUM GENET, V52, P678
[12]   Quantitative multiplex methylation-specific PCR analysis doubles detection of tumor cells in breast ductal fluid [J].
Fackler, Mary Jo ;
Malone, Kara ;
Zhang, Zhe ;
Schilling, Eric ;
Garrett-Mayer, Elizabeth ;
Swift-Scanlan, Theresa ;
Lange, Julie ;
Nayar, Ritu ;
Davidson, Nancy E. ;
Khan, Seema A. ;
Sukumar, Saraswati .
CLINICAL CANCER RESEARCH, 2006, 12 (11) :3306-3310
[13]   Gene-body hypermethylation of ATM in peripheral blood DNA of bilateral breast cancer patients [J].
Flanagan, James M. ;
Munoz-Alegre, Marta ;
Henderson, Stephen ;
Tang, Thomas ;
Sun, Ping ;
Johnson, Nichola ;
Fletcher, Olivia ;
Silva, Isabel dos Santos ;
Peto, Julian ;
Boshoff, Chris ;
Narod, Steven ;
Petronis, Arturas .
HUMAN MOLECULAR GENETICS, 2009, 18 (07) :1332-1342
[14]   Inhibition of Poly(ADP-Ribose) Polymerase in Tumors from BRCA Mutation Carriers. [J].
Fong, Peter C. ;
Boss, David S. ;
Yap, Timothy A. ;
Tutt, Andrew ;
Wu, Peijun ;
Mergui-Roelvink, Marja ;
Mortimer, Peter ;
Swaisland, Helen ;
Lau, Alan ;
O'Connor, Mark J. ;
Ashworth, Alan ;
Carmichael, James ;
Kaye, Stan B. ;
Schellens, Jan H. M. ;
de Bono, Johann S. .
NEW ENGLAND JOURNAL OF MEDICINE, 2009, 361 (02) :123-134
[15]   RISKS OF CANCER IN BRCA1-MUTATION CARRIERS [J].
FORD, D ;
EASTON, DF ;
BISHOP, DT ;
NAROD, SA ;
GOLDGAR, DE ;
HAITES, N ;
MILNER, B ;
ALLAN, L ;
PONDER, BAJ ;
PETO, J ;
SMITH, S ;
STRATTON, M ;
LENOIR, GM ;
FEUNTEUN, J ;
LYNCH, H ;
ARASON, A ;
BARKARDOTTIR, R ;
EGILSSON, V ;
BLACK, DM ;
KELSELL, D ;
SPURR, N ;
DEVILEE, P ;
CORNELISSE, CJ ;
VARSEN, H ;
BIRCH, JM ;
SKOLNICK, M ;
SANTIBANEZKOREF, MS ;
TEARE, D ;
STEEL, M ;
PORTER, D ;
COHEN, BB ;
CAROTHERS, A ;
SMYTH, E ;
WEBER, B ;
NEWBOLD, B ;
BOEHNKE, M ;
COLLINS, FS ;
CANNONALBRIGHT, LA ;
GOLDGAR, D .
LANCET, 1994, 343 (8899) :692-695
[16]   BRCA1 MUTATIONS IN PRIMARY BREAST AND OVARIAN CARCINOMAS [J].
FUTREAL, PA ;
LIU, QY ;
SHATTUCKEIDENS, D ;
COCHRAN, C ;
HARSHMAN, K ;
TAVTIGIAN, S ;
BENNETT, LM ;
HAUGENSTRANO, A ;
SWENSEN, J ;
MIKI, Y ;
EDDINGTON, K ;
MCCLURE, M ;
FRYE, C ;
WEAVERFELDHAUS, J ;
DING, W ;
GHOLAMI, Z ;
SODERKVIST, P ;
TERRY, L ;
JHANWAR, S ;
BERCHUCK, A ;
IGLEHART, JD ;
MARKS, J ;
BALLINGER, DG ;
BARRETT, JC ;
SKOLNICK, MH ;
KAMB, A ;
WISEMAN, R .
SCIENCE, 1994, 266 (5182) :120-122
[17]  
Galizia E, 2010, ANAL QUANT CYTOL, V32, P24
[18]  
GONZALO S, 2009, J APPL PHYSIOL, V109, P589
[19]   Mutational analysis of the class I β-tubulin gene in human breast cancer [J].
Hasegawa, S ;
Miyoshi, Y ;
Egawa, C ;
Ishitobi, M ;
Tamaki, Y ;
Monden, M ;
Noguchi, S .
INTERNATIONAL JOURNAL OF CANCER, 2002, 101 (01) :46-51
[20]   The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation [J].
Hashizume, R ;
Fukuda, M ;
Maeda, I ;
Nishikawa, H ;
Oyake, D ;
Yabuki, Y ;
Ogata, F ;
Ohta, T .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (18) :14537-14540