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Genetics of Breast and Ovarian Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Psychosocial Issues in Inherited Breast Cancer Syndromes

Table 11. Uptake of Risk-reducing Mastectomy (RRM) and/or Breast Screening AmongBRCA1andBRCA2Mutation Carriers

Study CitationStudy PopulationUptake of RRMUptake of Breast Screening Mammography and/or Breast MRILength of Follow-upComments
MRI = magnetic resonance imaging; RRSO = risk-reducing salpingo-oophorectomy.
a Self-report as data source.
b Medical records as data source.
United States
Botkin et al., 2003[216]Carriers (n = 37)aCarriers 0%Mammography24 mo 
Carriers 57%
Noncarriers (n = 92)aNoncarriers 0%Noncarriers 49%
Declined test 20%
Declined testing (n = 15)a MRI
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%MammographyMean 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%
MRI
Uninformative (n = 206)aUninformative 6.8%Carriers affected 51%
Carriers unaffected 46%
Noncarriers 11%
Uninformative 27%
International
Phillips et al., 2006[220]Carriers (n = 70)aCarriers 11%Mammography3 y 
Carriers 89%
MRI
Not evaluated
Metcalfe et al., 2008[221]Carriers (N = 2,677)aCarriers 18% (unaffected)Mammography3.9 y; range 1.5–10.3 yLarge differences in uptake of risk management options by country.
Carriers 87%
MRI1,294 participants had a personal history of breast cancer.
Carriers 31%
Julian-Reynier et al., 2011[222]Carriers (n = 101)aCarriers 6.9%Mammography5 yNoncarriers often continued screening.
Carriers 59%
Noncarriers aged 30–39 y 53%
Noncarriers (n = 145)aNoncarriers 0%MRI
Carriers 31%
Noncarriers 4.8%

Table 12. Uptake of Risk-reducing Salpingo-oophorectomy (RRSO) and/or Gynecologic Screening AmongBRCA1andBRCA2Mutation Carriers

Study CitationStudy PopulationUptake of RRSOUptake of Gynecologic ScreeningLength of Follow-upComments
CA-125 = cancer antigen 125; RRM = risk-reducing mastectomy; TVUS = transvaginal ultrasound.
a Self-report as data source.
b Medical records as data source.
c Data source not specified.
United States
Scheuer et al., 2002[223]Carriers (n = 179)aCarriers 50.3%CA-125Mean 24.8 mo; range 1.6–66.0 moWomen undergoing RRSO were older and more likely to have a personal history of breast cancer.
Carriers 67.6%
TVUS
Carriers 72.9%
Beattie et al., 2009[217]Carriers (n = 240)bCarriers 51%Not applicableMean 3.7 yWomen opting for RRSO <60 y, had a prior diagnosis of breast cancer, and also underwent RRM.
Median time to RRSO: 123 days from receiving results.
O'Neill et al., 2010[218]Carriers (n = 146)aCarriers 32%Not applicable12 mo 
Schwartz et al., 2012[219]Carriers (n = 100)aCarriers 65%CA-125Mean 5.3 yPredictors of RRSO were being ≥40 y and having received a diagnosis of breast cancer more than 10 y ago.
Noncarriers (n = 52)aNoncarriers 1.9%Carriers 56%
Noncarriers 12%
Uninformative 33%
Uninformative (n = 203)aUninformative 13.3%TVUS
Carriers 42%
Noncarriers 20%
Uninformative 26%
Mannis et al., 2013[224]Carriers (n = 201)aCarriers 69.6%CA-125Median 3.7 yPredictors of RRSO and screening included being aBRCAmutation carrier, age 40–49 y, having a higher income, ≥2 children, a personal history of breast cancer, and a first-degree relative with ovarian cancer.
26.3%
TVUS
26.3%
Noncarriers (n = 103)aNoncarriers 2.0%Not reported
Uninformative (n = 773)a; 59/773 with a variant of uncertain significanceUninformative 12.3%CA-125
10.4%
TVUS
6.5%
International
Phillips et al., 2006[220]Carriers (n = 70)aCarriers 29%CA-1253 y 
Carriers 0%
TVUS
Carriers 67%
Friebel et al., 2007[225]Carriers (N = 537)cCarriers 55%Not applicableMinimum 6 mo; median 36 moRRSO greatest in parous women >40 y.
Madalinska et al., 2007[226]Carriers (n = 160)a, bCarriers 74%Carriers 26%12 moWomen who underwent RRSO had lower education levels, viewed ovarian cancer as incurable, and believed strongly in the benefits of RRSO.
Specific method(s) of gynecological screening not reported.
Metcalfe et al., 2008[221]Carriers (N = 2,677)aCarriers 57%Not applicable3.9 y; range, 1.5–10.3 yLarge differences in uptake of risk management options by country.
Julian-Reynier et al., 2011[222]Carriers (n = 101)aCarriers 42.6%TVUS5 yRRSO uptake increased with age. Having undergone RRSO did not alter breast cancer risk perception. Noncarriers often continued screening.
Noncarriers (n = 145)aNoncarriers 2%Noncarriers 43.2%
Rhiem et al., 2011[227]Carriers (N = 306)bCarriers 57%Not evaluatedMean, 47.8 mo post oophorectomyMedian age at time of RRSO = 47 y. One occult fallopian tube cancer was detected at the time of RRSO. One peritoneal carcinoma was diagnosed 26 mo post-RRSO.
Sidon et al., 2012[228]Carriers (N = 700)a; 386/700 with personal history of breast cancerBRCA1carriers:Not evaluatedAffected with breast cancerUptake of RRSO was lower in women >60 y (22% uptake at 5 y). None of the women >70 y had a RRSO performed.
54.5%
BRCA2 carriers:
45.5%BRCA1: Mean, 2.29; range, 0.1–11.45 y
All carriers with no personal history of breast cancerBRCA2: Mean, 1.77; range, 0.1–11.1 y
54.2%Not affected with breast cancer
All carriers with personal history of breast cancerBRCA1: Mean, 1.63; range, 0.1–11.28 y
43.2%BRCA2:Mean, 1.75; range, 0.1–8.98 y
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