Genetics of Breast and Ovarian Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Psychosocial Issues in Inherited Breast Cancer Syndromes
Uptake of cancer-risk management options
An increasing number of studies have examined uptake and adherence to cancer risk management options among individuals who have undergone genetic counseling and testing for BRCA1 and BRCA2 gene mutations. Findings from these studies are reported in Table 10 and Table 11. Outcomes vary across studies and include uptake or adherence to screening (mammography, magnetic resonance imaging [MRI], CA 125, transvaginal ultrasound [TVUS]) and selection of RRM and RRSO. Studies generally report outcomes by mutation carrier or testing status (e.g., mutation-positive, mutation-negative, or declined genetic testing). Follow-up time after notification of genetic risk status also varied across studies, ranging from 12 months up to several years.
Findings from these studies suggest that breast screening often improves after notification of BRCA1/BRCA2 mutation carrier status; nonetheless, screening remains suboptimal. Fewer studies have examined adoption of MRI as a screening modality, probably due to the recent availability of efficacy data. Screening for ovarian cancer varied widely across studies, and also varied based on type of screening test (i.e., CA 125 serum testing vs. TVUS screening). However, ovarian cancer screening does not appear to be widely adopted by BRCA1/BRCA2 mutation carriers. Uptake of RRM varied widely across studies, and may be influenced by personal factors (such as younger age or having a family history of breast cancer), psychosocial factors (such as a desire for reduction of cancer-related distress), recommendations of the health care provider, and cultural or health care system factors. An individual's choice to have a bilateral mastectomy also appears to be influenced by pretreatment genetic education and counseling regardless of the genetic test results. Similarly, uptake of RRSO also varied across studies, and may be influenced by similar factors, including older age, personal history of breast cancer, perceived risk for ovarian cancer, cultural factors (i.e., country), and the recommendations of the health care provider.
Table 10. Uptake of RRM and/or Breast Screening (Mammography and/or Breast MRI) Among BRCA1 and BRCA2 Mutation Carriers
MRI = magnetic resonance imaging; RRM = risk-reducing mastectomy.
a Medical records as data source.
b Self-report as data source.
c Data source not specified.
|Study Citation||Study Population||Uptake of RRM||Uptake of Breast Screening Mammography and/or Breast MRI ||Length of Follow-up ||Comments |
|United States |
|||Carriers (N = 237)a||Carriers 23%||Not applicable||Mean 3.7 y||Women opting for RRM were aged <60 y, had a prior diagnosis of breast cancer, and also underwent RRSO.|
|Median time to RRM; 124 days from receiving results.|
|||Carriers (N = 22)b||Carriers 54% ||Not applicable ||12 mo ||All participants had newly diagnosed breast cancer. |
|Noncarriers (N = 127)b||Noncarriers 25% |
|||Carriers (N = 194)a, b||Carriers 14.9% ||Mammography ||Mean 24.8 mo; range 1.6-66.0 mo ||Women opting for RRM were younger and had more family members with breast or ovarian cancer. |
|Carriers 93.4% |
|Not evaluated |
|||Carriers (N = 37)b||Carriers 0%||Mammography||24 mo||�|
|Noncarriers (N = 92)b||Noncarriers 0%||Declined test 20%|
|Declined testing (N = 15)b||�||MRI|
|||Carriers (N = 84)b||Carriers 3%||Mammography||12 mo||Screening adherence in carriers was unchanged from baseline.|
|Noncarriers (N = 83)b||Noncarriers 0%||Noncarriers 44%|
|Declined test 54%|
|Declined testing (N = 49)b||�||MRI|
|||Carriers (N = 70)b||Carriers 11%||Mammography||3 y||�|
|||Carriers (N = 34)b||Carriers 9%||Mammography||12 mo||�|
|Noncarriers (N = 34)b||�||MRI|
|||Carriers (N = 26)b||Carriers 54%||Not applicable||12 mo||Carriers opting for RRM had higher levels of general and cancer-related distress.|
|Noncarriers (N = 37)b||Noncarriers 0%|
|||Carriers (N = 68)a||Carriers 51%||Carriers 49%||Median 21 mo; range 10-61 mo||Carriers opting for RRM tended to be younger.|
|Data based on specific method(s) not reported.|
|||Carriers (N = 517)b||Carriers 30% (unaffected)||Not applicable||Not provided|| Women with a sister with breast cancer were more likely to have an RRM. |
|249 participants had a personal history of breast cancer.|
|||Carriers (N = 2,677)b||Carriers 18% (unaffected)||Mammography||3.9 y; range 1.5-10.3 y||Large differences in uptake of risk management options by country.|
|MRI||1,294 participants had a personal history of breast cancer.|
|||Carriers (N = 537)c||Carriers 21%||Not applicable||Minimum 6 mo; median 36 mo||�|