Article
Choice of Management of Southern Chinese BRCA Mutation Carriers
Ava Kwong,
Connie H. N. Wong,
Catherine Shea,
Dacita T. K. Suen,
Catherine L. Y. Choi,
Corresponding Author
Ava Kwong
Division of Breast Surgery, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong
Cancer Genetics Centre, Hong Kong Sanatorium and Hospital, Hong Kong, Hong Kong
The Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong, Hong Kong
Department of Surgery, Stanford University, Stanford, CA, USA
[email protected]Search for more papers by this authorConnie H. N. Wong
Division of Breast Surgery, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong
The Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong, Hong Kong
Search for more papers by this authorCatherine Shea
Division of Breast Surgery, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong
Search for more papers by this authorDacita T. K. Suen
Division of Breast Surgery, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong
The Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong, Hong Kong
Search for more papers by this authorCatherine L. Y. Choi
Division of Breast Surgery, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong
Search for more papers by this authorAva Kwong,
Connie H. N. Wong,
Catherine Shea,
Dacita T. K. Suen,
Catherine L. Y. Choi,
Corresponding Author
Ava Kwong
Division of Breast Surgery, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong
Cancer Genetics Centre, Hong Kong Sanatorium and Hospital, Hong Kong, Hong Kong
The Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong, Hong Kong
Department of Surgery, Stanford University, Stanford, CA, USA
[email protected]Search for more papers by this authorConnie H. N. Wong
Division of Breast Surgery, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong
The Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong, Hong Kong
Search for more papers by this authorCatherine Shea
Division of Breast Surgery, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong
Search for more papers by this authorDacita T. K. Suen
Division of Breast Surgery, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong
The Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong, Hong Kong
Search for more papers by this authorCatherine L. Y. Choi
Division of Breast Surgery, The University of Hong Kong Li Ka Shing Faculty of Medicine, Hong Kong, Hong Kong
Search for more papers by this authorResults presented at International Surgical Week, September 6–9, 2009.
Abstract
Background
Mutations in the BRCA genes confer greater risk of developing breast, ovarian, and prostate cancer. Families carrying the mutation can have intensive surveillance and take preventative measures. This is the first report on the uptake of such interventions in Chinese mutation carriers residing in Asia.
Methods
Breast and ovarian cancer index patients and family members referred for genetic counselling and testing who are found to carry the BRCA mutations were included in this multicenter study.
Results
A total of 31 patients with breast and/or ovarian cancer were found to carry BRCA1 or BRCA2 mutations. Forty-one tested family members also carried the mutations. Of the females, 85.7% of the index patients opted for breast surveillance and 23.8% for prophylactic mastectomy. Of the family members, 82.4% chose breast surveillance and 17.7% had prophylactic mastectomy. The majority of index patients and family members preferred ovarian surveillance (84 and 82.4%). Amongst the index patients, 32% decided for prophylactic salpingo-oophorectomy; 17.6% of the family members who did not have history of ovarian cancer decided to have prophylactic salpingo-oophorectomy. All male index patients agreed to breast and prostate surveillance, including breast clinical examination and PSA monitoring. For those male family members found to be BRCA mutation carriers, 56.3% agreed to have breast surveillance and 66.7% agreed to have prostate surveillance. No index patient or family member agreed to any form of chemoprevention.
Conclusions
Chinese BRCA mutation carriers have a higher uptake of cancer surveillance than prophylactic surgery and have a lack of interest in the use of chemoprevention drugs.
References
- 1AntoniouA et al. 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 (2003) 72(5): 1117–113010.1086/37503312677558
- 2KingMC, MarksJH, MandellJB Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science (2003) 302(5645): 643–64610.1126/science.108875914576434
- 3ClausEB et al. The genetic attributable risk of breast and ovarian cancer. Cancer (1996) 77(11): 2318–232410.1002/(SICI)1097-0142(19960601)77:11<2318::AID-CNCR21>3.0.CO;2-Z8635102
10.1002/(SICI)1097-0142(19960601)77:11<2318::AID-CNCR21>3.0.CO;2-Z CAS PubMed Web of Science® Google Scholar
- 4FordD et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The breast cancer linkage consortium. Am J Hum Genet (1998) 62(3): 676–68910.1086/3017499497246
- 5BolletMA et al. Age remains the first prognostic factor for loco-regional breast cancer recurrence in young (<40 years) women treated with breast conserving surgery first. Radiother Oncol (2007) 82(3): 272–28010.1016/j.radonc.2007.01.00117287037
- 6MohamadHB, ApffelstaedtJP Counseling for male BRCA mutation carriers: a review. Breast (2008) 17(5): 441–45010.1016/j.breast.2008.05.00118657973
- 7KirchhoffT et al. BRCA mutations and risk of prostate cancer in Ashkenazi Jews. Clin Cancer Res (2004) 10(9): 2918–292110.1158/1078-0432.CCR-03-060415131025
- 8RebbeckTR et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol (2004) 22(6): 1055–106210.1200/JCO.2004.04.18814981104
- 9Meijers-HeijboerH et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med (2001) 345(3): 159–16410.1056/NEJM20010719345030111463009
- 10RebbeckTR et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med (2002) 346(21): 1616–162210.1056/NEJMoa01215812023993
- 11KauffND et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med (2002) 346(21): 1609–161510.1056/NEJMoa02011912023992
- 12 Society of Gynecologic Oncologists CommitteeSociety of gynecologic oncologists clinical practice committee statement on prophylactic salpingo-oophorectomy. Gynecol Oncol (2005) 98(2): 179–181
- 13DalyMB Tamoxifen in ductal carcinoma in situ. Semin Oncol (2006) 33(6): 647–64910.1053/j.seminoncol.2006.08.01917145343
- 14NarodSA et al. Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2002) 94(23): 1773–177912464649
- 15VogelVG The NSABP study of tamoxifen and raloxifene (STAR) trial. Expert Rev Anticancer Ther (2009) 9(1): 51–6010.1586/14737140.9.1.5119105706
- 16Bermejo-PerezMJ, Marquez-CalderonS, Llanos-MendezA Effectiveness of preventive interventions in BRCA1/2 gene mutation carriers: a systematic review. Int J Cancer (2007) 121(2): 225–23110.1002/ijc.2281717471565
- 17SakorafasGH The management of women at high risk for the development of breast cancer: risk estimation and preventative strategies. Cancer Treat Rev (2003) 29(2): 79–8910.1016/S0305-7372(02)00107-X12670450
- 18FisherB et al. Tamoxifen for the prevention of breast cancer: current status of the national surgical adjuvant breast and bowel project P-1 study. J Natl Cancer Inst (2005) 97(22): 1652–166210.1093/jnci/dji37216288118
- 19HoussamiN, CuzickJ, DixonJM The prevention, detection, and management of breast cancer. Med J Aust (2006) 184(5): 230–23416515434
- 20CummingsSR et al. The effect of raloxifene on risk of breast cancer in postmenopausal women: results from the MORE randomized trial. Multiple outcomes of raloxifene evaluation. JAMA (1999) 281(23): 2189–219710.1001/jama.281.23.218910376571
- 21 The reduction in risk of ovarian cancer associated with oral-contraceptive use. The cancer and steroid hormone study of the centers for disease control and the national institute of child health and human development. N Engl J Med 316(11): 650–655 (1987)
- 22BrownS et al. Initial radiation experience evaluating early tolerance and toxicities in patients undergoing accelerated partial breast irradiation using the contura multi-lumen balloon breast brachytherapy catheter. Brachytherapy (2009) 8(2): 227–23310.1016/j.brachy.2008.11.01319217353
- 23BurkeW et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer genetics studies consortium. JAMA (1997) 277(12): 997–100310.1001/jama.277.12.9979091675
- 24KriegeM et al. Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med (2004) 351(5): 427–43710.1056/NEJMoa03175915282350
- 25StoutjesdijkMJ et al. Magnetic resonance imaging and mammography in women with a hereditary risk of breast cancer. J Natl Cancer Inst (2001) 93(14): 1095–110210.1093/jnci/93.14.109511459871
- 26LeachMO et al. Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet (2005) 365(9473): 1769–177810.1016/S0140-6736(05)66481-115910949
- 27WarnerE et al. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA (2004) 292(11): 1317–132510.1001/jama.292.11.131715367553
- 28 National Institutes of Health Consensus Development Conference StatementOvarian cancer: screening, treatment, and follow-up. Gynecol Oncol (1994) 55(3 Pt 2): S4–S14
- 29DorumA et al. Prospectively detected cancer in familial breast/ovarian cancer screening. Acta Obstet Gynecol Scand (1999) 78(10): 906–91110.1080/j.1600-0412.1999.781013.x10577622
- 30WainbergS, HustedJ Utilization of screening and preventive surgery among unaffected carriers of a BRCA1 or BRCA2 gene mutation. Cancer Epidemiol Biomarkers Prev (2004) 13(12): 1989–199515598752
- 31DomchekSM et al. Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol (2006) 7(3): 223–22910.1016/S1470-2045(06)70585-X16510331
- 32MetcalfeKA et al. International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. Int J Cancer (2008) 122(9): 2017–202210.1002/ijc.2334018196574
- 33FordD et al. Risks of cancer in BRCA1-mutation carriers. Breast cancer linkage consortium. Lancet (1994) 343(8899): 692–69510.1016/S0140-6736(94)91578-47907678
- 34EastonDF et al. Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet (1997) 61: 120–12810.1086/5138919245992
- 35StruewingJP et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med (1997) 336(20): 1401–140810.1056/NEJM1997051533620019145676
- 36HopperJL et al. Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian breast cancer family study. Cancer Epidemiol Biomarkers Prev (1999) 8(9): 741–74710498392
- 37PodoF et al. The Italian multi-centre project on evaluation of MRI and other imaging modalities in early detection of breast cancer in subjects at high genetic risk. J Exp Clin Cancer Res (2002) 21(3 Suppl): 115–12412585665
- 38KauffND et al. Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol (2008) 26(8): 1331–133710.1200/JCO.2007.13.962618268356
- 39FatourosM, BaltoyiannisG, RoukosDH The predominant role of surgery in the prevention and new trends in the surgical treatment of women with BRCA1/2 mutations. Ann Surg Oncol (2008) 15(1): 21–3310.1245/s10434-007-9612-417940826
- 40DomchekSM, StopferJE, RebbeckTR Bilateral risk-reducing oophorectomy in BRCA1 and BRCA2 mutation carriers. J Natl Compr Canc Netw (2006) 4(2): 177–18216451773
- 41MilsomI, OdlindV Oral contraceptives give long-lasting protection against ovarian cancer. Use of oral contraceptives can explain reduced incidence of ovarian cancer in Sweden. Lakartidningen (2008) 105(10): 715–71618422235
- 42BonnD Prostate-cancer screening targets men with BRCA mutations. Lancet Oncol (2002) 3(12): 71410.1016/S1470-2045(02)00950-612473505
- 43GiriVN et al. Prostate cancer risk assessment program: a 10-year update of cancer detection. J Urol (2007) 178(5): 1920–192410.1016/j.juro.2007.07.01017868726
- 44BasuSK et al. Unilateral and bilateral breast cancer in women surviving pediatric Hodgkin’s disease. Int J Radiat Oncol Biol Phys (2008) 72(1): 34–4018722264
- 45KwongA et al. Characterization of the pathogenic mechanism of a novel BRCA2 variant in a Chinese family. Fam Cancer (2008) 7(2): 125–13310.1007/s10689-007-9155-717657584
- 46LimYK et al. Identification of novel BRCA large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer. Clin Genet (2007) 71(4): 331–34210.1111/j.1399-0004.2007.00773.x17470134
- 47SongCG et al. BRCA1 and BRCA2 gene mutations of familial breast cancer from Shanghai in China. Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2006) 23(1): 27–3116456781
- 48LawTT et al. Telephone pre-anaesthesia assessment for ambulatory breast surgery. Hong Kong Med J (2009) 15(3): 179–18219494372
- 49KriegeM et al. Differences between first and subsequent rounds of the MRISC breast cancer screening program for women with a familial or genetic predisposition. Cancer (2006) 106(11): 2318–232610.1002/cncr.2186316615112
- 50ChoiDH et al. Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients. J Clin Oncol (2004) 22(9): 1638–164510.1200/JCO.2004.04.17915117986
- 51GomezSL, FranceAM, LeeMM Socioeconomic status, immigration/acculturation, and ethnic variations in breast conserving surgery, San Francisco Bay area. Ethn Dis (2004) 14(1): 134–14015002933
- 52Julian-ReynierCM et al. Women’s attitudes toward preventive strategies for hereditary breast or ovarian carcinoma differ from one country to another: differences among English, French, and Canadian women. Cancer (2001) 92(4): 959–96810.1002/1097-0142(20010815)92:4<959::AID-CNCR1406>3.0.CO;2-V11550171
10.1002/1097-0142(20010815)92:4<959::AID-CNCR1406>3.0.CO;2-V CAS PubMed Web of Science® Google Scholar
- 53SuenD, ChowL, KwongA Breast-conserving surgery in Hong Kong Chinese women. World J Surg (2008) 32(12): 2549–255310.1007/s00268-008-9586-918563485
- 54LittonJK et al. Perception of screening and risk reduction surgeries in patients tested for a BRCA deleterious mutation. Cancer (2009) 115(8): 1598–160410.1002/cncr.2419919280625
- 55ScheuerL et al. Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol (2002) 20(5): 1260–126810.1200/JCO.20.5.126011870168
- 56Meijers-HeijboerEJ et al. Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation. Lancet (2000) 355(9220): 2015–202010.1016/S0140-6736(00)02347-310885351
- 57LodderLN et al. One year follow-up of women opting for presymptomatic testing for BRCA1 and BRCA2: emotional impact of the test outcome and decisions on risk management (surveillance or prophylactic surgery). Breast Cancer Res Treat (2002) 73(2): 97–11210.1023/A:101526962026512088120
- 58UyeiA et al. Association between clinical characteristics and risk-reduction interventions in women who underwent BRCA1 and BRCA2 testing: a single-institution study. Cancer (2006) 107(12): 2745–275110.1002/cncr.2235217109443
- 59RayJA, LoescherLJ, BrewerM Risk-reduction surgery decisions in high-risk women seen for genetic counseling. J Genet Couns (2005) 14(6): 473–48410.1007/s10897-005-5833-516388328
- 60BotkinJR et al. Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing. Am J Med Genet A (2003) 118A(3): 201–20910.1002/ajmg.a.1010212673648
- 61StirlingD et al. Screening for familial ovarian cancer: failure of current protocols to detect ovarian cancer at an early stage according to the international Federation of gynecology and obstetrics system. J Clin Oncol (2005) 23(24): 5588–559610.1200/JCO.2005.05.09716110018
- 62BrekelmansCT et al. Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk. J Clin Oncol (2001) 19(4): 924–93011181654
- 63LibermanL Breast cancer screening with MRI–what are the data for patients at high risk?. N Engl J Med (2004) 351(5): 497–50010.1056/NEJMe04811715282358
- 64TabarL et al. Number needed to screen: lives saved over 20 years of follow-up in mammographic screening. J Med Screen (2004) 11(3): 126–12910.1258/096914104173217515333270
- 65WarnerE, CauserPA MRI surveillance for hereditary breast-cancer risk. Lancet (2005) 365(9473): 1747–174910.1016/S0140-6736(05)66520-815910935
- 66RobsonME, OffitK Breast MRI for women with hereditary cancer risk. JAMA (2004) 292(11): 1368–137010.1001/jama.292.11.136815367560
- 67KerlikowskeK, BrownJS, GradyDG Should women with familial ovarian cancer undergo prophylactic oophorectomy?. Obstet Gynecol (1992) 80(4): 700–7071407898
- 68KwongA et al. Breast cancer in Chinese women younger than age 40: are they different from their older counterparts?. World J Surg (2008) 32: 2554–256110.1007/s00268-008-9589-618408960
- 69KwongA et al. The acceptance and feasibility of breast cancer screening in the East. Breast (2008) 17(1): 42–5010.1016/j.breast.2007.06.00517720500
- 70NagataC et al. Mammographic density and the risk of breast cancer in Japanese women. Br J Cancer (2005) 92(12): 2102–210610.1038/sj.bjc.660264315956963
- 71UrsinG et al. Breast cancer and oral contraceptive use in Asian-American women. Am J Epidemiol (1999) 150(6): 561–56710489994
- 72HaarsG et al. Measurements of breast density: no ratio for a ratio. Cancer Epidemiol Biomarkers Prev (2005) 14(11 Pt 1): 2634–264010.1158/1055-9965.EPI-05-082416284389
- 73BuistDS et al. Factors contributing to mammography failure in women aged 40–49 years. J Natl Cancer Inst (2004) 96(19): 1432–144010.1093/jnci/djh26915467032
- 74KuhlCK et al. Mammography, breast ultrasound, and magnetic resonance imaging for surveillance of women at high familial risk for breast cancer. J Clin Oncol (2005) 23(33): 8469–847610.1200/JCO.2004.00.496016293877
- 75ShahSK, ShahSK, GreatrexKV Current role of magnetic resonance imaging in breast imaging: a primer for the primary care physician. J Am Board Fam Pract (2005) 18(6): 478–49010.3122/jabfm.18.6.47816322412
- 76KwongA et al. A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer. Breast Cancer Res Treat (2009) 117: 683–68610.1007/s10549-009-0385-219353265
- 77PlevritisSK et al. Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging. JAMA (2006) 295(20): 2374–238410.1001/jama.295.20.237416720823
- 78MetcalfeKA et al. The use of preventive measures among healthy women who carry a BRCA1 or BRCA2 mutation. Fam Cancer (2005) 4(2): 97–10310.1007/s10689-005-4215-315951959
- 79FosterC et al. Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up. Br J Cancer (2007) 96(5): 718–72410.1038/sj.bjc.660361017285126
- 80ParmigianiG, BerryD, AguilarO Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet (1998) 62(1): 145–15810.1086/3016709443863
- 81KurianAW, GongGD, ChunNM et al. Performance of BRCA1/2 mutation prediction models in Asian Americans. J Clin Oncol (2008) 26(29): 4752–475810.1200/JCO.2008.16.831018779604
- 82ThirthagiriE et al. Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer. Breast Cancer Res (2008) 10(4): R5910.1186/bcr211818627636
- 83RaoNY, HuZ, YuYM et al. Evaluating the performance of models for predicting the BRCA germline mutations in Han Chinese familial breast cancer patients. Breast Cancer Res Treat (2008) 116(3): 563–57010.1007/s10549-008-0181-418807178
- 84BrandbergY et al. Psychological reactions, quality of life, and body image after bilateral prophylactic mastectomy in women at high risk for breast cancer: a prospective 1-year follow-up study. J Clin Oncol (2008) 26(24): 3943–394910.1200/JCO.2007.13.956818711183
