Abstract
The purpose of the study is to review the clinical studies relevant to the prognosis and prognostic associations of BRCA1- and BRCA2-associated breast cancers. Reports of relevant studies obtained from a MEDLINE search and references from these articles were critically reviewed. A number of methodologic limitations have been identified in the early studies. More recent studies have failed to demonstrate, for the most part, a significant overall survival difference between BRCA-associated breast cancers and sporadic breast cancers. The risk of in-breast tumor recurrence also appears to be similar in the first 5 years following a breast cancer diagnosis with apparent increase in the risk after 5 years in one study. Many in-breast tumor recurrences are now considered to be secondcond primary breast cancers. There is a significant increase in the risk of contralateral breast cancers in BRCA mutation carriers with an estimated 10-year risk ranging from 20–40%. The prognosis of BRCA-associated breast cancers appears to be similar to that of sporadic breast cancers based on the current literature. Future data from large prospective cohort studies will be of interest.
Similar content being viewed by others
References
Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL et al (2003) 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. Am J Hum Genet 72:1117–1130
Narod SA, Foulkes WD (2004) BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4:665–676
Eisinger F, Nogues C, Birnbaum D, Jacquemier J, Sobol H (1998) Low frequency of lymph-node metastasis in BRCA1-associated breast cancer. Lancet 351:1633–1634
Atchley DP, Albarracin CT, Lopez A, Valero V, Amos CI, Gonzalez-Angulo AM et al (2008) Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer. J Clin Oncol 26:4282–4288
Hedenfalk I, Duggan D, Chen Y, Radmacher M, Bittner M, Simon R et al (2001) Gene-expression profiles in hereditary breast cancer. N Engl J Med 344:539–548
Palacios J, Honrado E, Osorio A, Cazorla A, Sarrio D, Barroso A et al (2003) Immunohistochemical characteristics defined by tissue microarray of hereditary breast cancer not attributable to BRCA1 or BRCA2 mutations: differences from breast carcinomas arising in BRCA1 and BRCA2 mutation carriers. Clin Cancer Res 9:3606–3614
Lakhani SR, Jacquemier J, Sloane JP, Gusterson BA, Anderson TJ, van de Vijver MJ et al (1998) Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst 90:1138–1145
Albano WA, Recabaren JA, Lynch HT, Campbell AS, Mailliard JA, Organ CH et al (1982) Natural history of hereditary cancer of the breast and colon. Cancer 50:360–363
Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B et al (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250:1684–1689
Narod SA, Feunteun J, Lynch HT, Watson P, Conway T, Lynch J et al (1991) Familial breast-ovarian cancer locus on chromosome 17q12–q23. Lancet 338:82–83
Hall JM, Friedman L, Guenther C, Lee MK, Weber JL, Black DM et al (1992) Closing in on a breast cancer gene on chromosome 17q. Am J Hum Genet 50:1235–1242
Porter DE, Dixon M, Smyth E, Steel CM (1993) Breast cancer survival in BRCA1 carriers. Lancet 341:184–185
Porter DE, Cohen BB, Wallace MR, Smyth E, Chetty U, Dixon JM et al (1994) Breast cancer incidence, penetrance and survival in probable carriers of BRCA1 gene mutation in families linked to BRCA1 on chromosome 17q12–21. Br J Surg 81:1512–1515
Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N et al (1994) Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12–13. Science 265:2088–2090
Marcus JN, Watson P, Page DL, Narod SA, Lenoir GM, Tonin P et al (1996) Hereditary breast cancer: pathobiology, prognosis, and BRCA1 and BRCA2 gene linkage. Cancer 77:697–709
Johannsson OT, Ranstam J, Borg A, Olsson H (1998) Survival of BRCA1 breast and ovarian cancer patients: a population-based study from southern Sweden. J Clin Oncol 16:397–404
Lynch HT, Watson P (1998) BRCA1, pathology, and survival. J Clin Oncol 16:395–396
Ansquer Y, Gautier C, Fourquet A, Asselain B, Stoppa-Lyonnet D (1998) Survival in early-onset BRCA1 breast-cancer patients. Institut Curie Breast Cancer Group. Lancet 352:541
Gaffney DK, Brohet RM, Lewis CM, Holden JA, Buys SS, Neuhausen SL et al (1998) Response to radiation therapy and prognosis in breast cancer patients with BRCA1 and BRCA2 mutations. Radiother Oncol 47:129–136
Pierce LJ, Strawderman M, Narod SA, Oliviotto I, Eisen A, Dawson L et al (2000) Effect of radiotherapy after breast-conserving treatment in women with breast cancer and germline BRCA1/2 mutations. J Clin Oncol 18:3360–3369
Verhoog LC, Brekelmans CT, Seynaeve C, van den Bosch LM, Dahmen G, van Geel AN et al (1998) Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet 351:316–321
Verhoog LC, Brekelmans CT, Seynaeve C, Dahmen G, van Geel AN, Bartels CC et al (1999) Survival in hereditary breast cancer associated with germline mutations of BRCA2. J Clin Oncol 17:3396–3402
Loman N, Johannsson O, Bendahl P, Dahl N, Einbeigi Z, Gerdes A et al (2000) Prognosis and clinical presentation of BRCA2-associated breast cancer. Eur J Cancer 36:1365–1373
Eerola H, Vahteristo P, Sarantaus L, Kyyronen P, Pyrhonen S, Blomqvist C et al (2001) Survival of breast cancer patients in BRCA1, BRCA2, and non-BRCA1/2 breast cancer families: a relative survival analysis from Finland. Int J Cancer 93:368–372
Goode EL, Dunning AM, Kuschel B, Healey CS, Day NE, Ponder BA et al (2002) Effect of germ-line genetic variation on breast cancer survival in a population-based study. Cancer Res 62:3052–3057
Robson M, Gilewski T, Haas B, Levin D, Borgen P, Rajan P et al (1998) BRCA-associated breast cancer in young women. J Clin Oncol 16:1642–1649
Robson M, Levin D, Federici M, Satagopan J, Bogolminy F, Heerdt A et al (1999) Breast conservation therapy for invasive breast cancer in Ashkenazi women with BRCA gene founder mutations. J Natl Cancer Inst 91:2112–2117
Chappuis PO, Kapusta L, Begin LR, Wong N, Brunet JS, Narod SA et al (2000) Germline BRCA1/2 mutations and p27(Kip1) protein levels independently predict outcome after breast cancer. J Clin Oncol 18:4045–4052
Lee JS, Wacholder S, Struewing JP, McAdams M, Pee D, Brody LC et al (1999) Survival after breast cancer in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 91:259–263
Foulkes WD, Wong N, Brunet JS, Begin LR, Zhang JC, Martinez JJ et al (1997) Germ-line BRCA1 mutation is an adverse prognostic factor in Ashkenazi Jewish women with breast cancer. Clin Cancer Res 3:2465–2469
Foulkes WD, Chappuis PO, Wong N, Brunet JS, Vesprini D, Rozen F et al (2000) Primary node negative breast cancer in BRCA1 mutation carriers has a poor outcome. Ann Oncol 11:307–313
Stoppa-Lyonnet D, Ansquer Y, Dreyfus H, Gautier C, Gauthier-Villars M, Bourstyn E et al (2000) Familial invasive breast cancers: worse outcome related to BRCA1 mutations. J Clin Oncol 18:4053–4059
Moller P, Borg A, Evans DG, Haites N, Reis MM, Vasen H et al (2002) Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy. Int J Cancer 101:555–559
Hamann U, Sinn HP (2000) Survival and tumor characteristics of German hereditary breast cancer patients. Breast Cancer Res Treat 59:185–192
Veronesi A, De GC, Magri MD, Lombardi D, Zanetti M, Scuderi C et al (2005) Familial breast cancer: characteristics and outcome of BRCA 1–2 positive and negative cases. BMC Cancer 5:70
Bonadona V, Dussart-Moser S, Voirin N, Sinilnikova OM, Mignotte H, Mathevet P et al (2007) Prognosis of early-onset breast cancer based on BRCA1/2 mutation status in a French population-based cohort and review. Breast Cancer Res Treat 101:233–245
Vinodkumar B, Syamala V, Abraham EK, Balakrishnan R, Ankathil R (2007) Germline BRCA1 mutation and survival analysis in familial breast cancer patients in Kerala; South India. J Exp Clin Cancer Res 26:329–336
Robson ME, Chappuis PO, Satagopan J, Wong N, Boyd J, Goffin JR et al (2004) A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment. Breast Cancer Res 6:R8–R17
Rennert G, Bisland-Naggan S, Barnett-Griness O, Bar-Joseph N, Zhang S, Rennert HS et al (2007) Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations. N Engl J Med 357:115–123
Goodwin PJ, Phillips KA, West DW (2007) Prognosis of breast cancer in carriers of BRCA1 and BRCA2 mutations. N Engl J Med 357:1555
Roukos DH (2007) Prognosis of breast cancer in carriers of BRCA1 and BRCA2 mutations. N Engl J Med 357:1555–1556
Brekelmans CT, Seynaeve C, Menke-Pluymers M, Bruggenwirth HT, Tilanus-Linthorst MM, Bartels CC et al (2006) Survival and prognostic factors in BRCA1-associated breast cancer. Ann Oncol 17:391–400
Brekelmans CT, Tilanus-Linthorst MM, Seynaeve C, vd OA, Menke-Pluymers MB, Bartels CC et al (2007) Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, B. Eur J Cancer 43:867–876
Kriege M, Seynaeve C, Meijers-Heijboer H, Collee JM, Menke-Pluymers MB, Bartels CC et al (2008) Distant disease-free interval, site of first relapse and post-relapse survival in B. Breast Cancer Res Treat 111:303–311
Moller P, Evans DG, Reis MM, Gregory H, Anderson E, Maehle L et al (2007) Surveillance for familial breast cancer: differences in outcome according to BRCA mutation status. Int J Cancer 121:1017–1020
Soerjomataram I, Louwman MW, Ribot JG, Roukema JA, Coebergh JW (2008) An overview of prognostic factors for long-term survivors of breast cancer. Breast Cancer Res Treat 107:309–330
Mai PL, Chatterjee N, Hartge P, Tucker M, Brody L, Struewing JP et al (2009) Potential excess mortality in BRCA1/2 mutation carriers beyond breast, ovarian, prostate, and pancreatic cancers, and melanoma. PLoS One 4:e4812
Haffty BG, Harrold E, Khan AJ, Pathare P, Smith TE, Turner BC et al (2002) Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status. Lancet 359:1471–1477
Kirova YM, Stoppa-Lyonnet D, Savignoni A, Sigal-Zafrani B, Fabre N, Fourquet A (2005) Risk of breast cancer recurrence and contralateral breast cancer in relation to BRCA1 and BRCA2 mutation status following breast-conserving surgery and radiotherapy. Eur J Cancer 41:2304–2311
Pierce LJ, Levin AM, Rebbeck TR, Ben-David MA, Friedman E, Solin LJ et al (2006) Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer. J Clin Oncol 24:2437–2443
Narod SA, Brunet JS, Ghadirian P, Robson M, Heimdal K, Neuhausen SL et al (2000) Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case–control study. Hereditary Breast Cancer Clinical Study Group. Lancet 356:1876–1881
Metcalfe K, Lynch HT, Ghadirian P, Tung N, Olivotto I, Warner E et al (2004) Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 22:2328–2335
van Sprundel TC, Schmidt MK, Rookus MA, Brohet R, van Asperen CJ, Rutgers EJ et al (2005) Risk reduction of contralateral breast cancer and survival after contralateral prophylactic mastectomy in BRCA1 or BRCA2 mutation carriers. Br J Cancer 93:287–292
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Bordeleau, L., Panchal, S. & Goodwin, P. Prognosis of BRCA-associated breast cancer: a summary of evidence. Breast Cancer Res Treat 119, 13–24 (2010). https://doi.org/10.1007/s10549-009-0566-z
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10549-009-0566-z