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Genetics of Breast and Ovarian Cancer (PDQ®)

  • Updated: 07/11/2014

Table 14. Uptake of Risk-reducing Mastectomy (RRM) and/or Breast Screening Among BRCA1 and BRCA2 Mutation Carriers

Study Citation Study Population Uptake of RRM Uptake of Breast Screening Mammography and/or Breast MRI  Length of Follow-up  Comments  
United States
Botkin et al. (2003) [216]Carriers (n = 37)aCarriers 0%Mammography 24 mo
– Carriers 57%
Noncarriers (n = 92)aNoncarriers 0%– Noncarriers 49%
– Declined test 20%
Declined testing (n = 15)aMRI
– Not evaluated
Beattie et al. (2009) [217]Carriers (n = 237)bCarriers 23%Not applicableMean, 3.7 yWomen opting for RRM were younger than 60 y, had a prior diagnosis of breast cancer, and also underwent RRSO.
Median time to RRM: 124 days from receiving results.
O’Neill et al. (2010) [218]Carriers (n = 146)aCarriers 13%Not applicable12 moIntentions at test result disclosure predicted RRM decisions.
Schwartz et al. (2012) [219]Carriers (n = 108)aCarriers 37%Mammography Mean, 5.3 yPredictors of RRM were younger age, higher precounseling cancer distress, more recent diagnosis of breast or ovarian cancer, and intact ovaries.
– Carriers affected 92%
– Carriers unaffected 82%
Noncarriers (n = 60)aNoncarriers 0%– Noncarriers 66%
– Uninformative affected 89%
Uninformative (n = 206)aUninformative 6.8%– Carriers affected 51%
– Carriers unaffected 46%
– Noncarriers 11%
– Uninformative 27%
Garcia et al. (2013) [220]Carriers (n = 250)bCarriers 44%Excluding women post RRM:41 months; range, 26–66 moBreast surveillance decreased significantly from y 1–5 of follow-up: Mammography 43% to 7%; MRI 35% to 3%.
– Carriers 43%
– Carriers 35%
Singh et al. (2013) [221]Carriers (n = 136)bCarriers 42%Not applicableRange, 1–11 yPredictors of RRM were first- or second-degree relative diseased from breast cancer, having had at least one childbirth, and having undergone testing after 2005.
Phillips et al. (2006) [222]Carriers (n = 70)aCarriers 11%Mammography 3 y
– Carriers 89%
– Not evaluated
Metcalfe et al. (2008) [223]Carriers (N = 2,677)aCarriers 18% (unaffected)Mammography 3.9 y; range, 1.5–10.3 yLarge differences in uptake of risk management options by country.
– Carriers 87%
MRI 1,294 participants had a personal history of breast cancer.
– Carriers 31%
Julian-Reynier et al. (2011) [224]Carriers (n = 101)aCarriers 6.9%Mammography 5 yNoncarriers often continued screening.
– Carriers 59%
– Noncarriers aged 30–39 y 53%
Noncarriers (n = 145)aNoncarriers 0%MRI
– Carriers 31%
– Noncarriers 4.8%

MRI = magnetic resonance imaging; RRSO = risk-reducing salpingo-oophorectomy.
aSelf-report as data source.
bMedical records as data source.


  1. Botkin JR, Smith KR, Croyle RT, et al.: Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing. Am J Med Genet A 118 (3): 201-9, 2003.  [PUBMED Abstract]

  2. Beattie MS, Crawford B, Lin F, et al.: Uptake, time course, and predictors of risk-reducing surgeries in BRCA carriers. Genet Test Mol Biomarkers 13 (1): 51-6, 2009.  [PUBMED Abstract]

  3. O'Neill SC, Valdimarsdottir HB, Demarco TA, et al.: BRCA1/2 test results impact risk management attitudes, intentions, and uptake. Breast Cancer Res Treat 124 (3): 755-64, 2010.  [PUBMED Abstract]

  4. Schwartz MD, Isaacs C, Graves KD, et al.: Long-term outcomes of BRCA1/BRCA2 testing: risk reduction and surveillance. Cancer 118 (2): 510-7, 2012.  [PUBMED Abstract]

  5. Garcia C, Wendt J, Lyon L, et al.: Risk management options elected by women after testing positive for a BRCA mutation. Gynecol Oncol 132 (2): 428-33, 2014.  [PUBMED Abstract]

  6. Singh K, Lester J, Karlan B, et al.: Impact of family history on choosing risk-reducing surgery among BRCA mutation carriers. Am J Obstet Gynecol 208 (4): 329.e1-6, 2013.  [PUBMED Abstract]

  7. Phillips KA, Jenkins MA, Lindeman GJ, et al.: Risk-reducing surgery, screening and chemoprevention practices of BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Clin Genet 70 (3): 198-206, 2006.  [PUBMED Abstract]

  8. Metcalfe KA, Birenbaum-Carmeli D, Lubinski J, et al.: International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. Int J Cancer 122 (9): 2017-22, 2008.  [PUBMED Abstract]

  9. Julian-Reynier C, Mancini J, Mouret-Fourme E, et al.: Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations. Eur J Hum Genet 19 (5): 500-6, 2011.  [PUBMED Abstract]