Familial Breast Cancer

被引：128

作者：

Lalloo, F. ^{[1
]}

Evans, D. G. ^{[1
]}

机构：

[1] Univ Manchester, Manchester Acad Hlth Sci Ctr, St Marys Hosp, Cent Manchester Hosp Fdn Trust, Manchester M13 9WL, Lancs, England

来源：

CLINICAL GENETICS | 2012年 / 82卷 / 02期

关键词：

BRCA1; BRCA2; breast cancer; familial; TP53; GENOME-WIDE ASSOCIATION; BRCA2 MUTATION CARRIERS; SURGICAL ADJUVANT BREAST; RISK-REDUCING SURGERY; OVARIAN-CANCER; ESTROGEN-RECEPTOR; CONFER SUSCEPTIBILITY; GERMLINE MUTATIONS; SALPINGO-OOPHORECTOMY; COMMON VARIANTS;

D O I：

10.1111/j.1399-0004.2012.01859.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Since the localization and discovery of the first high-risk breast cancer (BC) genes in 1990, there has been a substantial progress in unravelling its familial component. Increasing numbers of women at risk of BC are coming forward requesting advice on their risk and what they can do about it. Three groups of genetic predisposition alleles have so far been identified with high-risk genes conferring 4085% lifetime risk including BRCA1, BRCA2 and TP53. Moderate risk genes (2040% risk) including PALB1, BRIP, ATM and CHEK2, and a host of low-risk common alleles identified largely through genome-wide association studies. Currently, only BRCA1, BRCA2 and TP53 are used in clinical practice on a wide scale, although testing of up to 50100 gene loci may be possible in the future utilizing next-generation technology.

引用

页码：105 / 114

页数：10

共 93 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] Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme [J].

Amir, E ;

Evans, DG ;

Shenton, A ;

Lalloo, F ;

Moran, A ;

Boggis, C ;

Wilson, M ;

Howell, A .

JOURNAL OF MEDICAL GENETICS, 2003, 40 (11) :807-814

[4] Assessing Women at High Risk of Breast Cancer: A Review of Risk Assessment Models [J].

Amir, Eitan ;

Freedman, Orit C. ;

Seruga, Bostjan ;

Evans, D. Gareth .

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2010, 102 (10) :680-691

[5] Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history:: A combined analysis of 22 studies [J].

Antoniou, A ;

Pharoah, PDP ;

Narod, S ;

Risch, HA ;

Eyfjord, JE ;

Hopper, JL ;

Loman, N ;

Olsson, H ;

Johannsson, O ;

Borg, Å ;

Pasini, B ;

Radice, P ;

Manoukian, S ;

Eccles, DM ;

Tang, N ;

Olah, E ;

Anton-Culver, H ;

Warner, E ;

Lubinski, J ;

Gronwald, J ;

Gorski, B ;

Tulinius, H ;

Thorlacius, S ;

Eerola, H ;

Nevanlinna, H ;

Syrjäkoski, K ;

Kallioniemi, OP ;

Thompson, D ;

Evans, C ;

Peto, J ;

Lalloo, F ;

Evans, DG ;

Easton, DF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (05) :1117-1130

[6]

Antoniou AC, 2008, BRIT J CANCER, V45, P425

[7] Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers [J].

Antoniou, Antonis C. ;

Spurdle, Amanda B. ;

Sinilnikova, Olga M. ;

Healey, Sue ;

Pooley, Karen A. ;

Schmutzler, Rita K. ;

Versmold, Beatrix ;

Engel, Christoph ;

Meindl, Alfons ;

Arnold, Norbert ;

Hofmann, Wera ;

Sutter, Christian ;

Niederacher, Dieter ;

Deissler, Helmut ;

Caldes, Trinidad ;

Kampjarvi, Kati ;

Nevanlinna, Heli ;

Simard, Jacques ;

Beesley, Jonathan ;

Chen, Xiaoqing ;

Neuhausen, Susan L. ;

Rebbeck, Timothy R. ;

Wagner, Theresa ;

Lynch, Henry T. ;

Isaacs, Claudine ;

Weitzel, Jeffrey ;

Ganz, Patricia A. ;

Daly, Mary B. ;

Tomlinson, Gail ;

Olopade, Olufunmilayo I. ;

Bium, Joanne L. ;

Couch, Fergus J. ;

Peterlongo, Paolo ;

Manoukian, Siranoush ;

Barile, Monica ;

Radice, Paolo ;

Szabo, Csilla I. ;

Pereira, Lutecia H. Mateus ;

Greene, Mark H. ;

Rennert, Gad ;

Leibkowicz, Flavio ;

Barnett-Griness, Ofra ;

Andrulis, Irene L. ;

Ozcelik, Hilmi ;

Gerdes, Anne-Marie ;

Caligo, Maria A. ;

Laitman, Yael ;

Kaufman, Bella ;

Milgrom, Roni ;

Friedman, Eitan .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (04) :937-948

[8] Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers [J].

Antoniou, Antonis C. ;

Kartsonaki, Christiana ;

Sinilnikova, Olga M. ;

Soucy, Penny ;

McGuffog, Lesley ;

Healey, Sue ;

Lee, Andrew ;

Peterlongo, Paolo ;

Manoukian, Siranoush ;

Peissel, Bernard ;

Zaffaroni, Daniela ;

Cattaneo, Elisa ;

Barile, Monica ;

Pensotti, Valeria ;

Pasini, Barbara ;

Dolcetti, Riccardo ;

Giannini, Giuseppe ;

Putignano, Anna Laura ;

Varesco, Liliana ;

Radice, Paolo ;

Mai, Phuong L. ;

Greene, Mark H. ;

Andrulis, Irene L. ;

Glendon, Gord ;

Ozcelik, Hilmi ;

Thomassen, Mads ;

Gerdes, Anne-Marie ;

Kruse, Torben A. ;

Jensen, Uffe Birk ;

Crueger, Dorthe G. ;

Caligo, Maria A. ;

Laitman, Yael ;

Milgrom, Roni ;

Kaufman, Bella ;

Paluch-Shimon, Shani ;

Friedman, Eitan ;

Loman, Niklas ;

Harbst, Katja ;

Lindblom, Annika ;

Arver, Brita ;

Ehrencrona, Hans ;

Melin, Beatrice ;

Nathanson, Katherine L. ;

Domchek, Susan M. ;

Rebbeck, Timothy ;

Jakubowska, Ania ;

Lubinski, Jan ;

Gronwald, Jacek ;

Huzarski, Tomasz ;

Byrski, Tomasz .

HUMAN MOLECULAR GENETICS, 2011, 20 (16) :3304-3321

[9] Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction [J].

Antoniou, Antonis C. ;

Beesley, Jonathan ;

McGuffog, Lesley ;

Sinilnikova, Olga M. ;

Healey, Sue ;

Neuhausen, Susan L. ;

Ding, Yuan Chun ;

Rebbeck, Timothy R. ;

Weitzel, Jeffrey N. ;

Lynch, Henry T. ;

Isaacs, Claudine ;

Ganz, Patricia A. ;

Tomlinson, Gail ;

Olopade, Olufunmilayo I. ;

Couch, Fergus J. ;

Wang, Xianshu ;

Lindor, Noralane M. ;

Pankratz, Vernon S. ;

Radice, Paolo ;

Manoukian, Siranoush ;

Peissel, Bernard ;

Zaffaroni, Daniela ;

Barile, Monica ;

Viel, Alessandra ;

Allavena, Anna ;

Dall'Olio, Valentina ;

Peterlongo, Paolo ;

Szabo, Csilla I. ;

Zikan, Michal ;

Claes, Kathleen ;

Poppe, Bruce ;

Foretova, Lenka ;

Mai, Phuong L. ;

Greene, Mark H. ;

Rennert, Gad ;

Lejbkowicz, Flavio ;

Glendon, Gord ;

Ozcelik, Hilmi ;

Andrulis, Irene L. ;

Thomassen, Mads ;

Gerdes, Anne-Marie ;

Sunde, Lone ;

Cruger, Dorthe ;

Jensen, Uffe Birk ;

Caligo, Maria ;

Friedman, Eitan ;

Kaufman, Bella ;

Laitman, Yael ;

Milgrom, Roni ;

Dubrovsky, Maya .

CANCER RESEARCH, 2010, 70 (23) :9742-9754

[10] BRCA1 and BRCA2 mutations in a population-based study of male breast cancer -: art. no. R2 [J].

Basham, VM ;

Lipscombe, JM ;

Ward, JM ;

Gayther, SA ;

Ponder, BAJ ;

Easton, DF ;

Pharoah, PDP .

BREAST CANCER RESEARCH, 2002, 4 (01) :R2

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