MOLECULAR GENETICS OF BREAST AND OVARIAN CANCER: RECENT ADVANCES AND CLINICAL IMPLICATIONS

被引：3

作者：

Bogdanova, N. ^{[1
,2
]}

Doerk, T. ^{[2
]}

机构：

[1] Hannover Med Sch, Clin Radiat Oncol, D-30625 Hannover, Germany

[2] Hannover Med Sch, Clin Obstet & Gynaecol, D-30625 Hannover, Germany

来源：

BALKAN JOURNAL OF MEDICAL GENETICS | 2012年 / 15卷

关键词：

Breast carcinoma; Ovarian carcinoma; Germ-line mutations; Chromosomal instability; GENOME-WIDE ASSOCIATION; BRCA2 MUTATION CARRIERS; SUSCEPTIBILITY LOCI; ATAXIA-TELANGIECTASIA; GERMLINE MUTATIONS; POLYGENIC SUSCEPTIBILITY; CHEK2; GENE; RISK; PENETRANCE; PALB2;

D O I：

10.2478/v10034-012-0024-9

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Over the last few years, evidence has been accumulated that several susceptibility genes exist that differentially impact on the lifetime risk for breast or ovarian cancer. High-to-moderate penetrance alleles have been identified in genes involved in DNA double-strand break signaling and repair, and many low-penetrance susceptibility loci have been identified through genome-wide association studies. In this review, we briefly summarize present knowledge about breast and ovarian cancer susceptibility genes and discuss their implications for risk prediction and therapy.

引用

页码：75 / 80

页数：6

共 58 条

[1] CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women [J].

Adank, Muriel A. ;

Jonker, Marianne A. ;

Kluijt, Irma ;

van Mil, Saskia E. ;

Oldenburg, Rogier A. ;

Mooi, Wolter J. ;

Hogervorst, Frans B. L. ;

van den Ouweland, Ans M. W. ;

Gille, Johan J. P. ;

Schmidt, Marjanka K. ;

van der Vaart, Aad W. ;

Meijers-Heijboer, Hanne ;

Waisfisz, Quinten .

JOURNAL OF MEDICAL GENETICS, 2011, 48 (12) :860-863

[2] Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2 [J].

Ahmed, Shahana ;

Thomas, Gilles ;

Ghoussaini, Maya ;

Healey, Catherine S. ;

Humphreys, Manjeet K. ;

Platte, Radka ;

Morrison, Jonathan ;

Maranian, Melanie ;

Pooley, Karen A. ;

Luben, Robert ;

Eccles, Diana ;

Evans, D. Gareth ;

Fletcher, Olivia ;

Johnson, Nichola ;

Silva, Isabel dos Santos ;

Peto, Julian ;

Stratton, Michael R. ;

Rahman, Nazneen ;

Jacobs, Kevin ;

Prentice, Ross ;

Anderson, Garnet L. ;

Rajkovic, Aleksandar ;

Curb, J. David ;

Ziegler, Regina G. ;

Berg, Christine D. ;

Buys, Saundra S. ;

McCarty, Catherine A. ;

Feigelson, Heather Spencer ;

Calle, Eugenia E. ;

Thun, Michael J. ;

Diver, W. Ryan ;

Bojesen, Stig ;

Nordestgaard, Borge G. ;

Flyger, Henrik ;

Doerk, Thilo ;

Schuermann, Peter ;

Hillemanns, Peter ;

Karstens, Johann H. ;

Bogdanova, Natalia V. ;

Antonenkova, Natalia N. ;

Zalutsky, Iosif V. ;

Bermisheva, Marina ;

Fedorova, Sardana ;

Khusnutdinova, Elza ;

Kang, Daehee ;

Yoo, Keun-Young ;

Noh, Dong Young ;

Ahn, Sei-Hyun ;

Devilee, Peter ;

van Asperen, Christi J. .

NATURE GENETICS, 2009, 41 (05) :585-590

[3] RAD51 135G→C modifies breast cancer risk among BRCA2 mutation carriers:: Results from a combined analysis of 19 studies [J].

Antoniou, Antonis C. ;

Sinilnikova, Olga M. ;

Simard, Jacques ;

Leone, Melanie ;

Dumont, Martine ;

Neuhausen, Susan L. ;

Struewing, Jeffery P. ;

Stoppa-Lyonnet, Dominique ;

Barjhoux, Laure ;

Hughes, David J. ;

Coupier, Isabelle ;

Belotti, Muriel ;

Lasset, Christine ;

Rebbeck, Timothy R. ;

Wagner, Theresa ;

Lynch, Henry T. ;

Domchek, Susan M. ;

Nathanson, Katherine L. ;

Garber, Judy E. ;

Weitzel, Jeffrey ;

Narod, Steven A. ;

Tomlinson, Gail ;

Olopade, Olufunmilayo I. ;

Godwin, Andrew ;

Isaacs, Claudine ;

Jakubowska, Anna ;

Lubinski, Jan ;

Gronwald, Jacek ;

Gorski, Bohdan ;

Byrski, Tomasz ;

Huzarski, Tomasz ;

Peock, Susan ;

Cook, Margaret ;

Baynes, Caroline ;

Murray, Alexandra ;

Rogers, Mark ;

Daly, Peter A. ;

Dorkins, Huw ;

Schmutzler, Rita K. ;

Versmold, Beatrix ;

Engel, Christoph ;

Meindl, Alfons ;

Arnold, Norbert ;

Niederacher, Dieter ;

Deissler, Helmut ;

Spurdle, Amanda B. ;

Chen, Xiaoqing ;

Waddell, Nicola ;

Cloonan, Nicole ;

Kirchhoff, Tomas .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (06) :1186-1200

[4] A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population [J].

Antoniou, Antonis C. ;

Wang, Xianshu ;

Fredericksen, Zachary S. ;

McGuffog, Lesley ;

Tarrell, Robert ;

Sinilnikova, Olga M. ;

Healey, Sue ;

Morrison, Jonathan ;

Kartsonaki, Christiana ;

Lesnick, Timothy ;

Ghoussaini, Maya ;

Barrowdale, Daniel ;

Peock, Susan ;

Cook, Margaret ;

Oliver, Clare ;

Frost, Debra ;

Eccles, Diana ;

Evans, D. Gareth ;

Eeles, Ros ;

Izatt, Louise ;

Chu, Carol ;

Douglas, Fiona ;

Paterson, Joan ;

Stoppa-Lyonnet, Dominique ;

Houdayer, Claude ;

Mazoyer, Sylvie ;

Giraud, Sophie ;

Lasset, Christine ;

Remenieras, Audrey ;

Caron, Olivier ;

Hardouin, Agnes ;

Berthet, Pascaline ;

Hogervorst, Frans B. L. ;

Rookus, Matti A. ;

Jager, Agnes ;

van den Ouweland, Ans ;

Hoogerbrugge, Nicoline ;

van der Luijt, Rob B. ;

Meijers-Heijboer, Hanne ;

Garcia, Encarna B. Gomez ;

Devilee, Peter ;

Vreeswijk, Maaike P. G. ;

Lubinski, Jan ;

Jakubowska, Anna ;

Gronwald, Jacek ;

Huzarski, Tomasz ;

Byrski, Tomasz ;

Gorski, Bohdan ;

Cybulski, Cezary ;

Spurdle, Amanda B. .

NATURE GENETICS, 2010, 42 (10) :885-+

[5] Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene [J].

Bartkova, Jirina ;

Tommiska, Johanna ;

Oplustilova, Lenka ;

Aaltonen, Kirsimari ;

Tamminen, Anitta ;

Heikkinen, Tuomas ;

Mistrik, Martin ;

Aittomaki, Kristiina ;

Blomqvist, Carl ;

Heikkila, Paivi ;

Lukas, Jiri ;

Nevanlinna, Heli ;

Bartek, Jiri .

MOLECULAR ONCOLOGY, 2008, 2 (04) :296-316

[6] Association of two mutations in the CHEK2 gene with breast cancer [J].

Bogdanova, N ;

Enssen-Dubrowinskaja, N ;

Feshchenko, S ;

Lazjuk, GI ;

Rogov, YI ;

Dammann, O ;

Bremer, M ;

Karstens, JH ;

Sohn, C ;

Dörk, T .

INTERNATIONAL JOURNAL OF CANCER, 2005, 116 (02) :263-266

[7] High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus [J].

Bogdanova, N. V. ;

Antonenkova, N. N. ;

Rogov, Y. I. ;

Karstens, J. H. ;

Hillemanns, P. ;

Doerk, T. .

CLINICAL GENETICS, 2010, 78 (04) :364-372

[8] Nijmegen BREAKAGE SYNDROME mutations and risk of breast cancer [J].

Bogdanova, Natalia ;

Feshchenko, Sergei ;

Schuermann, Peter ;

Waltes, Regina ;

Wieland, Britta ;

Hillemanns, Peter ;

Rogov, Yuri I. ;

Dammann, Olaf ;

Bremer, Michael ;

Karstens, Johann H. ;

Sohn, Christof ;

Varon, Raymonda ;

Doerk, Thilo .

INTERNATIONAL JOURNAL OF CANCER, 2008, 122 (04) :802-806

[9] A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer [J].

Bogdanova, Natalia ;

Cybulski, Cezary ;

Bermisheva, Marina ;

Datsyuk, Ihor ;

Yamini, Paria ;

Hillemanns, Peter ;

Antonenkova, Natalja Nikolaevna ;

Khusnutdinova, Elza ;

Lubinski, Jan ;

Doerk, Thilo .

BREAST CANCER RESEARCH AND TREATMENT, 2009, 118 (01) :207-211

[10] Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer [J].

Bolton, Kelly L. ;

Chenevix-Trench, Georgia ;

Goh, Cindy ;

Sadetzki, Siegal ;

Ramus, Susan J. ;

Karlan, Beth Y. ;

Lambrechts, Diether ;

Despierre, Evelyn ;

Barrowdale, Daniel ;

McGuffog, Lesley ;

Healey, Sue ;

Easton, Douglas F. ;

Sinilnikova, Olga ;

Benitez, Javier ;

Garcia, Maria J. ;

Neuhausen, Susan ;

Gail, Mitchell H. ;

Hartge, Patricia ;

Peock, Susan ;

Frost, Debra ;

Evans, Gareth ;

Eeles, Rosalind ;

Godwin, Andrew K. ;

Daly, Mary B. ;

Kwong, Ava ;

Ma, Edmond S. K. ;

Lazaro, Conxi ;

Blanco, Ignacio ;

Montagna, Marco ;

D'Andrea, Emma ;

Nicoletto, Maria Ornella ;

Johnatty, Sharon E. ;

Krueger, Susanne ;

Jensen, Allan ;

Hogdall, Estrid ;

Goode, Ellen L. ;

Fridley, Brooke L. ;

Loud, Jennifer T. ;

Greene, Mark H. ;

Mai, Phuong L. ;

Chetrit, Angela ;

Lubin, Flora ;

Hirsh-Yechezkel, Galit ;

Glendon, Gord ;

Andrulis, Irene L. ;

Toland, Amanda E. ;

Senter, Leigha ;

Gore, Martin E. ;

Gourley, Charlie ;

Michie, Caroline O. .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2012, 307 (04) :382-390

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