Abstract
Approximately 5–10% of breast cancer is considered to be hereditary. Familial breast cancers exhibit a dominant hereditary pattern, which typically have an early age of onset and are accompanied by symptoms of ovarian cancer, bilateral breast cancer, or male breast cancer. BRCA gene mutation carriers should be regarded as high-risk groups for breast cancer, which necessitates early examination of breast cancer. Studies have built up kinds of predictive models and recommended that female BRCA mutation carriers should receive breast self-test training and take monthly breast self-examination. Familial or hereditary breast cancer family members are high-risk groups, and their risks of breast cancer can be reduced by chemoprevention, including dietary composition adjustment and application of endocrine drugs. In recent years, large-scale clinical trials have shown the important role of chemoprevention in reducing the occurrence of hereditary breast cancer. Prophylactic mastectomy is also suitable for healthy women with high breast cancer risk factors. It can reduce the incidence rate of breast cancer in high-risk women by 90% and decrease the breast cancer mortality rate in medium-risk and high-risk women by 100% and 81%, respectively.
Similar content being viewed by others
References
Honrado E, Benitez J, Palacios J (2005) The molecular pathology of hereditary breast cancer: genetic testing and therapeutic implications. Mod Pathol 18(10):1305–1320. doi:10.1038/modpathol.3800453
Smith TM, Lee MK, Szabo CI, Jerome N, McEuen M, Taylor M, Hood L, King MC (1996) Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res 6(11):1029–1049
Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378(6559):789–792. doi:10.1038/378789a0
Database TBCIC (2012) Available at http://research.nhgri.nih.gov/projects/bic/
Thomassen M, Gerdes AM, Cruger D, Jensen PK, Kruse TA (2006) Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark. Cancer Genet Cytogenet 168(2):168–171. doi:10.1016/j.cancergencyto.2005.12.016
Spearman AD, Sweet K, Zhou XP, McLennan J, Couch FJ, Toland AE (2008) Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. J Clin Oncol 26(33):5393–5400. doi:10.1200/jco.2008.17.8228
Collins N, McManus R, Wooster R, Mangion J, Seal S, Lakhani SR, Ormiston W, Daly PA, Ford D, Easton DF et al (1995) Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13. Oncogene 10(8):1673–1675
Cornelis RS, Neuhausen SL, Johansson O, Arason A, Kelsell D, Ponder BA, Tonin P, Hamann U, Lindblom A, Lalle P et al (1995) High allele loss rates at 17q12-q21 in breast and ovarian tumors from BRCAl-linked families. The breast cancer linkage consortium. Genes Chromosomes Cancer 13(3):203–210
Larsen MJ, Thomassen M, Tan Q, Laenkholm AV, Bak M, Sorensen KP, Andersen MK, Kruse TA, Gerdes AM (2014) RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families. BMC Med Genet 7:9. doi:10.1186/1755-8794-7-9
Honrado E, Osorio A, Milne RL, Paz MF, Melchor L, Cascon A, Urioste M, Cazorla A, Diez O, Lerma E, Esteller M, Palacios J, Benitez J (2007) Immunohistochemical classification of non-BRCA1/2 tumors identifies different groups that demonstrate the heterogeneity of BRCAX families. Modern Pathol 20(12):1298–1306. doi:10.1038/modpathol.3800969
Esteller M, Silva JM, Dominguez G, Bonilla F, Matias-Guiu X, Lerma E, Bussaglia E, Prat J, Harkes IC, Repasky EA, Gabrielson E, Schutte M, Baylin SB, Herman JG (2000) Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors. J Natl Cancer Inst 92(7):564–569
Collins N, Wooster R, Stratton MR (1997) Absence of methylation of CpG dinucleotides within the promoter of the breast cancer susceptibility gene BRCA2 in normal tissues and in breast and ovarian cancers. Br J Cancer 76(9):1150–1156
Birch JM, Blair V, Kelsey AM, Evans DG, Harris M, Tricker KJ, Varley JM (1998) Cancer phenotype correlates with constitutional TP53 genotype in families with the li-Fraumeni syndrome. Oncogene 17(9):1061–1068. doi:10.1038/sj.onc.1202033
Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, Kassel J, Gryka MA, Bischoff FZ, Tainsky MA et al (1990) Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science (New York, NY) 250(4985):1233–1238
Ding SL, Sheu LF, Yu JC, Yang TL, Chen BF, Leu FJ, Shen CY (2004) Abnormality of the DNA double-strand-break checkpoint/repair genes, ATM, BRCA1 and TP53, in breast cancer is related to tumour grade. Br J Cancer 90(10):1995–2001. doi:10.1038/sj.bjc.6601804
Khanna KK, Chenevix-Trench G (2004) ATM and genome maintenance: defining its role in breast cancer susceptibility. J Mammary Gland Biol Neoplasia 9(3):247–262. doi:10.1023/B:JOMG.0000048772.92326.a1
Li DM, Sun H (1997) TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta. Cancer Res 57(11):2124–2129
Nakanishi C, Yamaguchi T, Iijima T, Saji S, Toi M, Mori T, Miyaki M (2004) Germline mutation of the LKB1/STK11 gene with loss of the normal allele in an aggressive breast cancer of Peutz-Jeghers syndrome. Oncology 67(5–6):476–479. doi:10.1159/000082933
Thiffault I, Hamel N, Pal T, McVety S, Marcus VA, Farber D, Cowie S, Deschenes J, Meschino W, Odefrey F, Goldgar D, Graham T, Narod S, Watters AK, MacNamara E, Du Sart D, Chong G, Foulkes WD (2004) Germline truncating mutations in both MSH2 and BRCA2 in a single kindred. Br J Cancer 90(2):483–491. doi:10.1038/sj.bjc.6601424
Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Spurdle A, Robson M, Sherman M, Mulligan AM, Couch FJ, Engel C, McGuffog L, Healey S, Sinilnikova OM, Southey MC, Terry MB, Goldgar D, O’Malley F, John EM, Janavicius R, Tihomirova L, Hansen TV, Nielsen FC, Osorio A, Stavropoulou A, Benitez J, Manoukian S, Peissel B, Barile M, Volorio S, Pasini B, Dolcetti R, Putignano AL, Ottini L, Radice P, Hamann U, Rashid MU, Hogervorst FB, Kriege M, van der Luijt RB, Hebon PS, Frost D, Evans DG, Brewer C, Walker L, Rogers MT, Side LE, Houghton C, Embrace WJ, Godwin AK, Schmutzler RK, Wappenschmidt B, Meindl A, Kast K, Arnold N, Niederacher D, Sutter C, Deissler H, Gadzicki D, Preisler-Adams S, Varon-Mateeva R, Schonbuchner I, Gevensleben H, Stoppa-Lyonnet D, Belotti M, Barjhoux L, Collaborators GS, Isaacs C, Peshkin BN, Caldes T, de la Hoya M, Canadas C, Heikkinen T, Heikkila P, Aittomaki K, Blanco I, Lazaro C, Brunet J, Agnarsson BA, Arason A, Barkardottir RB, Dumont M, Simard J, Montagna M, Agata S, D’Andrea E, Yan M, Fox S, kConFab I, Rebbeck TR, Rubinstein W, Tung N, Garber JE, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Szabo C, Offit K, Sakr R, Gaudet MM, Singer CF, Tea MK, Rappaport C, Mai PL, Greene MH, Sokolenko A, Imyanitov E, Toland AE, Senter L, Sweet K, Thomassen M, Gerdes AM, Kruse T, Caligo M, Aretini P, Rantala J, von Wachenfeld A, Henriksson K, Collaborators S-B, Steele L, Neuhausen SL, Nussbaum R, Beattie M, Odunsi K, Sucheston L, Gayther SA, Nathanson K, Gross J, Walsh C, Karlan B, Chenevix-Trench G, Easton DF, Antoniou AC, Consortium of Investigators of Modifiers of B (2012) Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the consortium of investigators of modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomark Prev 21(1):134–147. doi:10.1158/1055-9965.EPI-11-0775
van der Groep P, van der Wall E, van Diest PJ (2011) Pathology of hereditary breast cancer. Cell Oncol (Dordr) 34(2):71–88. doi:10.1007/s13402-011-0010-3
Lakhani SR, Reis-Filho JS, Fulford L, Penault-Llorca F, van der Vijver M, Parry S, Bishop T, Benitez J, Rivas C, Bignon YJ, Chang-Claude J, Hamann U, Cornelisse CJ, Devilee P, Beckmann MW, Nestle-Kramling C, Daly PA, Haites N, Varley J, Lalloo F, Evans G, Maugard C, Meijers-Heijboer H, Klijn JG, Olah E, Gusterson BA, Pilotti S, Radice P, Scherneck S, Sobol H, Jacquemier J, Wagner T, Peto J, Stratton MR, McGuffog L, Easton DF, Breast Cancer Linkage C (2005) Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res 11(14):5175–5180. doi:10.1158/1078-0432.CCR-04-2424
Eisinger F, Jacquemier J, Charpin C, Stoppa-Lyonnet D, Bressac-de Paillerets B, Peyrat JP, Lonny M, Guinebretiere JM, Sauvan R, Noguchi T, Birnbaum D, Sobol H (1998) Mutations at BRCA1: the medullary breast carcinoma revisited. Cancer Res 58(8):1588–1592
Jensen ML, Kiaer H, Andersen J, Jensen V, Melsen F (1997) Prognostic comparison of three classifications for medullary carcinomas of the breast. Histopathology 30(6):523–532
Foulkes WD, Brunet JS, Stefansson IM, Straume O, Chappuis PO, Begin LR, Hamel N, Goffin JR, Wong N, Trudel M, Kapusta L, Porter P, Akslen LA (2004) The prognostic implication of the basal-like (cyclin E high/p27 low/p53+/glomeruloid-microvascular-proliferation+) phenotype of BRCA1-related breast cancer. Cancer Res 64(3):830–835
Bane AL, Pinnaduwage D, Colby S, Reedijk M, Egan SE, Bull SB, O’Malley FP, Andrulis IL (2009) Expression profiling of familial breast cancers demonstrates higher expression of FGFR2 in BRCA2-associated tumors. Breast Cancer Res Treat 117(1):183–191. doi:10.1007/s10549-008-0087-1
Lakhani SR, Van De Vijver MJ, Jacquemier J, Anderson TJ, Osin PP, McGuffog L, Easton DF (2002) The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 20(9):2310–2318. doi:10.1200/JCO.2002.09.023
Palacios J, Honrado E, Osorio A, Cazorla A, Sarrio D, Barroso A, Rodriguez S, Cigudosa JC, Diez O, Alonso C, Lerma E, Dopazo J, Rivas C, Benitez J (2005) Phenotypic characterization of BRCA1 and BRCA2 tumors based in a tissue microarray study with 37 immunohistochemical markers. Breast Cancer Res Treat 90(1):5–14. doi:10.1007/s10549-004-1536-0
Pinilla SM, Honrado E, Hardisson D, Benitez J, Palacios J (2006) Caveolin-1 expression is associated with a basal-like phenotype in sporadic and hereditary breast cancer. Breast Cancer Res Treat 99(1):85–90. doi:10.1007/s10549-006-9184-1
Gail MH, Brinton LA, Byar DP, Corle DK, Green SB, Schairer C, Mulvihill JJ (1989) Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst 81(24):1879–1886
Costantino JP, Gail MH, Pee D, Anderson S, Redmond CK, Benichou J, Wieand HS (1999) Validation studies for models projecting the risk of invasive and total breast cancer incidence. J Natl Cancer Inst 91(18):1541–1548
Rockhill B, Spiegelman D, Byrne C, Hunter DJ, Colditz GA (2001) Validation of the Gail et al. model of breast cancer risk prediction and implications for chemoprevention. J Natl Cancer Inst 93(5):358–366
Berry DA, Parmigiani G, Sanchez J, Schildkraut J, Winer E (1997) Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst 89(3):227–238
Parmigiani G, Berry D, Aguilar O (1998) Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 62(1):145–158
Berry DA, Iversen ES Jr, Gudbjartsson DF, Hiller EH, Garber JE, Peshkin BN, Lerman C, Watson P, Lynch HT, Hilsenbeck SG, Rubinstein WS, Hughes KS, Parmigiani G (2002) BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol 20(11):2701–2712. doi:10.1200/JCO.2002.05.121
Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC (2002) Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 20(6):1480–1490. doi:10.1200/JCO.2002.20.6.1480
Lindor NM, Johnson KJ, Harvey H, Shane Pankratz V, Domchek SM, Hunt K, Wilson M, Cathie Smith M, Couch F (2010) Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study. Familial Cancer 9(4):495–502. doi:10.1007/s10689-010-9348-3
Rao NY, Hu Z, Yu JM, Li WF, Zhang B, Su FX, Wu J, Shen ZZ, Huang W, Shao ZM (2009) Evaluating the performance of models for predicting the BRCA germline mutations in Han Chinese familial breast cancer patients. Breast Cancer Res Treat 116(3):563–570. doi:10.1007/s10549-008-0181-4
Rao NY, Hu Z, Li WF, Huang J, Ma ZL, Zhang B, Su FX, Zhou J, Di GH, Shen KW, Wu J, Lu JS, Luo JM, Yuan WT, Shen ZZ, Huang W, Shao ZM (2009) Models for predicting BRCA1 and BRCA2 mutations in Han Chinese familial breast and/or ovarian cancer patients. Breast Cancer Res Treat 113(3):467–477. doi:10.1007/s10549-008-9965-9
Moyer VA, Force USPST (2014) Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. preventive services task force recommendation statement. Ann Intern Med 160(4):271–281. doi:10.7326/M13-2747
Antoniou AC, Hardy R, Walker L, Evans DG, Shenton A, Eeles R, Shanley S, Pichert G, Izatt L, Rose S, Douglas F, Eccles D, Morrison PJ, Scott J, Zimmern RL, Easton DF, Pharoah PD (2008) Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, myriad and the Manchester scoring system using data from UK genetics clinics. J Med Genet 45(7):425–431. doi:10.1136/jmg.2007.056556
Hartge P, Struewing JP, Wacholder S, Brody LC, Tucker MA (1999) The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. Am J Hum Genet 64(4):963–970
Gronwald J, Cybulski C, Lubinski J, Narod SA (2007) Phenocopies in breast cancer 1 (BRCA1) families: implications for genetic counselling. J Med Genet 44(4):e76. doi:10.1136/jmg.2006.048462
Rowan E, Poll A, Narod SA (2007) A prospective study of breast cancer risk in relatives of BRCA1/BRCA2 mutation carriers. J Med Genet 44(8):e89; author reply e88
Smith A, Moran A, Boyd MC, Bulman M, Shenton A, Smith L, Iddenden R, Woodward ER, Lalloo F, Maher ER, Evans DG (2007) Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening. J Med Genet 44(1):10–15. doi:10.1136/jmg.2006.043091
Vos JR, de Bock GH, Teixeira N, van der Kolk DM, Jansen L, Mourits MJ, Oosterwijk JC (2013) Proven non-carriers in BRCA families have an earlier age of onset of breast cancer. Eur J Cancer 49(9):2101–2106. doi:10.1016/j.ejca.2013.02.018
Nelson HD, Fu R, Goddard K, Mitchell JP, Okinaka-Hu L, Pappas M, Zakher B (2013) In: risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: systematic review to update the U.S. preventive services task force recommendation. U.S. preventive services task force evidence syntheses, formerly systematic evidence reviews. Rockville (MD)
Weir HK, Thun MJ, Hankey BF, Ries LA, Howe HL, Wingo PA, Jemal A, Ward E, Anderson RN, Edwards BK (2003) Annual report to the nation on the status of cancer, 1975-2000, featuring the uses of surveillance data for cancer prevention and control. J Natl Cancer Inst 95(17):1276–1299
Trainer AH, Lewis CR, Tucker K, Meiser B, Friedlander M, Ward RL (2010) The role of BRCA mutation testing in determining breast cancer therapy. Nat Rev Clin Oncol 7(12):708–717. doi:10.1038/nrclinonc.2010.175
Cao AY, Hu Z, Shao ZM (2010) Mutation screening of breast cancer susceptibility genes in Chinese high-risk families: the results will develop the genetic testing strategy in China. Breast Cancer Res Treat 120(1):271–272. doi:10.1007/s10549-009-0598-4
Hereditary Breast and/or Ovarian Cancer Syndrome (2012.) http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed 20 Dec 2012
Warner E, Plewes DB, Hill KA, Causer PA, Zubovits JT, Jong RA, Cutrara MR, DeBoer G, Yaffe MJ, Messner SJ, Meschino WS, Piron CA, Narod SA (2004) Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 292(11):1317–1325. doi:10.1001/jama.292.11.1317
Breast Cancer Screening and Diagnosis (2012) http://www.nccn.org/professionals/physician_gls/pdf/breast-screening.pdf. Accessed 20 Dec 2012
Nieuwenhuis B, Van Assen-Bolt AJ, Van Waarde-Verhagen MA, Sijmons RH, Van der Hout AH, Bauch T, Streffer C, Kampinga HH (2002) BRCA1 and BRCA2 heterozygosity and repair of X-ray-induced DNA damage. Int J Radiat Biol 78(4):285–295. doi:10.1080/09553000110097974
Powell SN, Kachnic LA (2003) Roles of BRCA1 and BRCA2 in homologous recombination, DNA replication fidelity and the cellular response to ionizing radiation. Oncogene 22(37):5784–5791. doi:10.1038/sj.onc.1206678
Yoshida K, Miki Y (2004) Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage. Cancer Sci 95(11):866–871
Formenti SC, Preston-Martin S, Haffty BG (2000) BRCA1/2 germline mutations: a marker for radioresistance or radiosensitivity? J Clin Oncol 18(5):1159–1160. doi:10.1200/JCO.2000.18.5.1159
Xia F, Powell SN (2002) The molecular basis of radiosensitivity and chemosensitivity in the treatment of breast cancer. Semin Radiat Oncol 12(4):296–304. doi:10.1053/srao.2002.35250
Sporn MB, Newton DL (1979) Chemoprevention of cancer with retinoids. Fed Proc 38(11):2528–2534
King MC, Wieand S, Hale K, Lee M, Walsh T, Owens K, Tait J, Ford L, Dunn BK, Costantino J, Wickerham L, Wolmark N, Fisher B, National Surgical Adjuvant B, Bowel P (2001) Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and bowel project (NSABP-P1) breast cancer prevention trial. JAMA 286(18):2251–2256
Mokbel K, Singh-Ranger G (2002) Breast cancer chemoprevention--an update. Curr Med Res Opin 18(6):329–331
Vogel VG (2009) The NSABP study of tamoxifen and Raloxifene (STAR) trial. Expert Rev Anticancer Ther 9(1):51–60. doi:10.1586/14737140.9.1.51
Vogel VG, Costantino JP, Wickerham DL, Cronin WM, Cecchini RS, Atkins JN, Bevers TB, Fehrenbacher L, Pajon ER, Wade JL, 3rd, Robidoux A, Margolese RG, James J, Runowicz CD, Ganz PA, Reis SE, McCaskill-Stevens W, Ford LG, Jordan VC, Wolmark N, National Surgical Adjuvant B, Bowel P (2010) Update of the National Surgical Adjuvant Breast and Bowel Project Study of Tamoxifen and Raloxifene (STAR) P-2 Trial: preventing breast cancer. Cancer Prev Res (Phila) 3(6):696–706. doi:10.1158/1940-6207.CAPR-10-0076
Jordan VC (2007) Beyond raloxifene for the prevention of osteoporosis and breast cancer. Br J Pharmacol 150(1):3–4. doi:10.1038/sj.bjp.0706962
Beattie MS, Costantino JP, Cummings SR, Wickerham DL, Vogel VG, Dowsett M, Folkerd EJ, Willett WC, Wolmark N, Hankinson SE (2006) Endogenous sex hormones, breast cancer risk, and tamoxifen response: an ancillary study in the NSABP breast cancer prevention trial (P-1). J Natl Cancer Inst 98(2):110–115. doi:10.1093/jnci/djj011
Cuzick J, Sestak I, Forbes JF, Dowsett M, Knox J, Cawthorn S, Saunders C, Roche N, Mansel RE, von Minckwitz G, Bonanni B, Palva T, Howell A, Investigators I-I (2014) Anastrozole for prevention of breast cancer in high-risk postmenopausal women (IBIS-II): an international, double-blind, randomised placebo-controlled trial. Lancet 383(9922):1041–1048. doi:10.1016/S0140-6736(13)62292-8
Goss PE, Ingle JN, Ales-Martinez JE, Cheung AM, Chlebowski RT, Wactawski-Wende J, McTiernan A, Robbins J, Johnson KC, Martin LW, Winquist E, Sarto GE, Garber JE, Fabian CJ, Pujol P, Maunsell E, Farmer P, Gelmon KA, Tu D, Richardson H, Investigators NCMS (2011) Exemestane for breast-cancer prevention in postmenopausal women. N Engl J Med 364(25):2381–2391. doi:10.1056/NEJMoa1103507
Vantyghem SA, Wilson SM, Postenka CO, Al-Katib W, Tuck AB, Chambers AF (2005) Dietary genistein reduces metastasis in a postsurgical orthotopic breast cancer model. Cancer Res 65(8):3396–3403. doi:10.1158/0008-5472.CAN-04-4109
Lostumbo L, Carbine NE, Wallace J (2010) Prophylactic mastectomy for the prevention of breast cancer. Cochrane Database Syst Rev 11:CD002748. doi:10.1002/14651858.CD002748.pub3
Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, Garber JE, Neuhausen SL, Matloff E, Eeles R, Pichert G, Van t’veer L, Tung N, Weitzel JN, Couch FJ, Rubinstein WS, Ganz PA, Daly MB, Olopade OI, Tomlinson G, Schildkraut J, Blum JL, Rebbeck TR (2010) Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304(9):967–975. doi:10.1001/jama.2010.1237
Rebbeck TR, Lynch HT, Neuhausen SL, Narod SA, Van’t Veer L, Garber JE, Evans G, Isaacs C, Daly MB, Matloff E, Olopade OI, Weber BL, Prevention, Observation of Surgical End Points Study G (2002) Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 346 (21):1616–1622. doi:10.1056/NEJMoa012158
Rebbeck TR, Kauff ND, Domchek SM (2009) Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst 101(2):80–87. doi:10.1093/jnci/djn442
Kauff ND, Domchek SM, Friebel TM, Robson ME, Lee J, Garber JE, Isaacs C, Evans DG, Lynch H, Eeles RA, Neuhausen SL, Daly MB, Matloff E, Blum JL, Sabbatini P, Barakat RR, Hudis C, Norton L, Offit K, Rebbeck TR (2008) Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol 26(8):1331–1337. doi:10.1200/JCO.2007.13.9626
Hereditary Breast and/or Ovarian Cancer Syndrome. http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. 20 December 2012
Euhus D (2012) Managing the breast in patients who test positive for hereditary breast cancer. Ann Surg Oncol 19(6):1738–1744. doi:10.1245/s10434-012-2258-x
Rebbeck TR, Friebel T, Wagner T, Lynch HT, Garber JE, Daly MB, Isaacs C, Olopade OI, Neuhausen SL, van’t Veer L, Eeles R, Evans DG, Tomlinson G, Matloff E, Narod SA, Eisen A, Domchek S, Armstrong K, Weber BL, Group PS (2005) Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 23(31):7804–7810. doi:10.1200/JCO.2004.00.8151
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2017 Springer Nature Singapore Pte Ltd.
About this chapter
Cite this chapter
Cao, A., Huang, L., Shao, Z. (2017). The Preventive Intervention of Hereditary Breast Cancer. In: Song, E., Hu, H. (eds) Translational Research in Breast Cancer. Advances in Experimental Medicine and Biology, vol 1026. Springer, Singapore. https://doi.org/10.1007/978-981-10-6020-5_3
Download citation
DOI: https://doi.org/10.1007/978-981-10-6020-5_3
Published:
Publisher Name: Springer, Singapore
Print ISBN: 978-981-10-6019-9
Online ISBN: 978-981-10-6020-5
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)