Genetics of Breast and Gynecologic Cancers (PDQ®)–Health Professional Version
Psychosocial Aspects of Cancer Risk Management for Hereditary Breast and Ovarian Cancer
Decision aids for persons considering risk management options for hereditary breast and ovarian cancer
There is a small but growing body of literature on the use of decision aids as an adjunct to standard genetic counseling to assist patients in making informed decisions about cancer risk management.[213-217] One study showed that the use of a decision aid consisting of individualized value assessment and cancer risk management information after receiving positive BRCA1/BRCA2 test results was associated with fewer intrusive thoughts and lower levels of depression at the 6-month follow-up in unaffected women. Use of the decision aid did not alter cancer risk management intentions and behaviors. Slightly detrimental effects on well-being and several decision-related outcomes, however, were noted among affected women.[215] Another study compared responses to a tailored decision aid (including a values-clarification exercise) versus a general information pamphlet intended for women making decisions about ovarian cancer risk management. In the short term, the women receiving the tailored decision aid showed a decrease in decisional conflict and increased knowledge compared with women receiving the pamphlet, but no differences in decisional outcomes were found between the two groups. In addition, the decision aid did not appear to alter the participant’s baseline cancer risk management decisions.[214] A multisite randomized trial of 150 unaffected women with BRCA1/BRCA2 pathogenic variants assessed the effect of a decision aid on breast cancer risk management decisions and psychosocial outcomes. At 6-month and 12-month follow-up, women randomly assigned to the decision aid had lower levels of cancer-related distress (P = .01 at 6 months and P = .05 at 12 months) than did the control group.[217] Decisional conflict scores were relatively low at baseline and declined over time in both groups; the scores between the two groups were not statistically different.
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 pathogenic variants. Findings from these studies are reported in Table 15 and Table 16. Outcomes vary across studies and include uptake or adherence to screening (mammography, magnetic resonance imaging [MRI], cancer antigen [CA] 125, transvaginal ultrasound [TVUS]) and selection of RRM and RRSO. Studies generally report outcomes by pathogenic variant carrier or testing status (e.g., positive for pathogenic variants, negative for pathogenic variants, 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 pathogenic variant 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 carriers of BRCA1/BRCA2 pathogenic variants. 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.[218] 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 of ovarian cancer, cultural factors (i.e., country), and the recommendations of the health care provider.
On the other hand, many women found to be pathogenic variant carriers express interest in RRM in hopes of minimizing their risk of breast cancer. In one study of a number of unaffected women with no previous risk-reducing surgery who received results of BRCA1 testing after genetic counseling, 17% of carriers (2 of 12) intended to have mastectomies and 33% (4 of 12) intended to have oophorectomies.[234] In a later study of the same population, RRM was considered an important option by 35% of women who tested positive, whereas risk-reducing oophorectomy was considered an important option by 76%. A prospective study assessed the stability of risk management preferences over five time points (pre-BRCA testing to 9 months after results disclosure) among 80 Dutch women with a documented BRCA pathogenic variant. Forty-six participants indicated a preference for screening at baseline. Of 25 women who preferred RRM at baseline, 22 indicated the same preference 9 months after test results disclosure; however, it was not reported how many women actually had RRM.[235]
Initial interest does not always translate into the decision for surgery. Two different studies found low rates of RRM among carriers of pathogenic variants in the year after result disclosure, one showing 3% (1 of 29) of carriers and the other 9% (3 of 34) of carriers having had this surgery.[167,236] Among members from a large BRCA1 kindred, utilization of cancer screening and/or risk-reducing surgeries was assessed at baseline (before disclosure of results), and at 1 year and 2 years after disclosure of BRCA1 test results. Of the 269 men and women who participated, complete data were obtained on 37 female carriers and 92 female noncarriers, all aged 25 years or older. At 2 years after disclosure of test results, none of the women had undergone RRM, although 4 of the 37 carriers (10.8%) said they were considering the procedure. In contrast, of the 26 women who had not had an oophorectomy before baseline, 46% (12 of 26) had obtained an oophorectomy by 2 years after testing. Of those carriers aged 25 to 39 years, 29% (5 of 17) underwent oophorectomy, while 78% (7 of 9) of the carriers aged 40 years and older had this procedure.[219] In a study assessing uptake of risk-reducing surgery 3 months after BRCA result disclosure, 7 of 62 women had undergone RRM and 13 of 62 women had undergone RRSO. Intent to undergo RRSO before testing correlated with procedure uptake. In contrast, intent to undergo RRM did not correlate with uptake. Overall, reasons given for indecision about risk-reducing surgery included complex testing factors such as the significance of family history in the absence of a pathogenic variant, concerns over the surgical procedure, and time and uncertainty regarding early menopause and the use of HRT.[237] In a U.K. study, data were collected during observations of genetic consultations and in semistructured interviews with 41 women after they received genetic counseling.[238] The option of risk-reducing surgery was raised in 29 consultations and discussed in 35 of the postclinic interviews. Fifteen women said they would consider having an oophorectomy in the future, and nine said they would consider having a mastectomy. The implications of undergoing oophorectomy and mastectomy were discussed in postclinic interviews. Risk-reducing surgery was described by the counselees as providing individuals with a means to (a) fulfill their obligations to other family members and (b) reduce risk and contain their fear of cancer. The costs of this form of risk management were described by the respondents as follows:
- Compromising social obligations.
- Upsetting the natural balance of the body.
- Not receiving protection from cancer.
- Operative and postoperative complications.
- The onset of menopause.
- The effects of body image, gender, and personal identity.
- Potential effects on sexual relationships.[238]
A number of women choose to undergo RRM and RRSO without genetic testing because of the following:
Among FDRs of breast cancer patients attending a surveillance clinic, women who expressed an interest in RRM and/or had undergone surgery were found to have significantly more breast cancer biopsies (P < .05) and higher subjective 10-year breast cancer risk estimates (P < .05) than women not interested in RRM. Cancer worry at the time of entry into the clinic was highest among women who subsequently underwent RRM compared with women who expressed interest but had not yet had surgery and women who did not intend to have surgery (P < .001).[241]
BRCA testing, when offered to women newly diagnosed with breast cancer, has been shown to influence surgical decision making in that carriers are more likely to opt for bilateral mastectomy compared with noncarriers.[218,242,243] A study that evaluated predictors of contralateral RRM among 435 breast cancer survivors found that 16% had undergone contralateral RRM (in conjunction with mastectomy of the affected breast) before referral for genetic counseling and BRCA1/BRCA2 genetic testing.[244] Predictors of contralateral RRM before genetic counseling and testing included younger age at breast cancer diagnosis, more time since diagnosis, having at least one affected FDR, and not being employed full-time. In the year after disclosure of test results, 18% of women who tested positive for a BRCA1/BRCA2 pathogenic variant and 2% of those whose test results were uninformative underwent contralateral RRM. Predictors of contralateral RRM after genetic testing included younger age at breast cancer diagnosis, higher cancer-specific distress before genetic counseling, and having a positive BRCA1/BRCA2 test result. In this study, contralateral RRM was not associated with distress at 1 year after disclosure of genetic test results. A retrospective chart review evaluated uptake of bilateral mastectomies in 110 women who underwent BRCA1/BRCA2 genetic testing before making surgical decisions about the treatment of newly diagnosed breast cancer. Carriers of BRCA pathogenic variants were more likely to undergo bilateral mastectomies than were women in whom no variant was detected (83% vs. 37%; P = .046).[245] The only predictor of contralateral RRM in women without a pathogenic variant was being married (P = .03). Age, race, parity, disease stage and biomarkers, increased mammographic breast density, and breast MRI did not influence contralateral RRM decisions at the time of primary surgical treatment.
A study conducted from 2006 to 2014 in 11 U.S. academic and community centers of 897 women, aged 40 years and younger at breast cancer diagnosis, found that rates of BRCA genetic testing have increased over time.[243] Within 1 year after diagnosis, 87% of the sample underwent BRCA testing. The rate increased from 77% of newly diagnosed women tested in 2006 to 95% of women tested in 2013. Among women who tested positive for a pathogenic BRCA variant and stated that testing affected their surgery decisions (n = 88), 86% underwent bilateral mastectomy compared with 51% of noncarriers (P < .001). Among untested women, about one-third reported that they were not told by a health care provider that they were candidates for BRCA testing; yet, according to national guidelines, all were eligible for testing solely on the basis of their age at diagnosis.
Dutch women (N = 114) who had undergone unilateral or bilateral RRM with breast reconstruction between 1994 and 2002 were retrospectively surveyed to determine their satisfaction with the procedure.[246] Sixty-eight percent were either unaffected carriers of BRCA pathogenic variants or at a 50% risk of having a BRCA pathogenic variant in their family. Sixty percent of respondents indicated that they were satisfied with the procedure, 95% would opt for RRM again, and 80% would opt for the same reconstruction procedure. Less than half reported some perioperative or postoperative complications, ongoing physical complaints, or some physical limitations. Twenty-nine percent reported altered feelings of femininity after the procedure, 44% reported adverse changes in their sexual relationships, and 35% indicated that they believed their partners experienced adverse changes in their sexual relationship. Ten percent of women, however, reported positive changes in their sexual relationship after the procedure. Compared with patients who indicated satisfaction with this procedure, nonsatisfied patients were more likely to feel less informed about the procedure and its consequences, report more complications and physical complaints, feel that their breasts did not belong to their body, and indicate that they would not opt for reconstruction again. Those who reported a negative effect on their sexual relationship were more likely to:
- Feel less informed.
- Experience more physical complaints and limitations.
- Express that their breasts did not feel like their own.
- Be disinclined to opt for reconstruction again.
- State that the surgery had not met their expectations.
- Experience altered feelings of femininity and perceived adverse changes in their partner’s view of their femininity and their sexual relationship.
Ninety Swedish women who had undergone RRM between 1997 and 2005 were surveyed before surgery, 6 months after surgery, and 1 year after surgery to evaluate changes in health-related quality of life, depression, anxiety, sexuality, and body image. There were no significant changes in health-related quality of life or depression at the three time points; anxiety decreased over time (P = .0004). More than 80% of women reported having an intimate relationship at all three time points. Women who reported being sexually active were asked to respond to questions about sexual pleasure, discomfort, habit, and frequency of activity. There were no statistically significant differences related to frequency, habit, or discomfort. However, pleasure significantly decreased between baseline and 1 year after surgery (P = .005). At 1 year after surgery, 48% of women reported feeling less attractive, 48% reported feeling self-conscious, and 44% reported dissatisfaction with surgical scars.[247]
Discussion of risk-reducing surgical options may not consistently occur during pretest genetic counseling. In one multi-institutional study, only one-half of genetics specialists discussed RRM and RRSO in consultations with women from high-risk breast cancer families,[248,249] despite the fact that discussion of surgical options was significantly associated with meeting counselees’ expectations, and that such information was not associated with increased anxiety.[250]
Given the increased risk of ovarian cancer faced by women with a BRCA1 or BRCA2 pathogenic variant, those who do receive information about RRSO show wide variations in surgery uptake (27%–72%).[9,123,228,231,251,252] A study showed that clinical factors related to choosing RRSO versus surveillance alone are older age, parity of one or more, and a prior breast cancer diagnosis.[253] In this study, the choice of RRSO was not related to family history of breast or ovarian cancer. Hysterectomy was presented as an option during genetic counseling, and 80% of women who underwent RRSO also elected to have a hysterectomy.
Cancer screening and risk-reducing behaviors
Data are now emerging regarding uptake and adherence to cancer risk management recommendations such as screening and risk-reducing interventions. Cancer screening adherence and risk-reduction behaviors as defined by the National Comprehensive Cancer Network Guidelines were assessed in a cross-sectional study of 214 women with a personal history (n = 134) or family history (n = 80) of breast or ovarian cancer. Among unaffected women older than 40 years, 10% had not had a mammogram or clinical breast examination (CBE) in the previous year and 46% did not practice breast self-examination (BSE). Among women previously affected with breast or ovarian cancer, 21% had not had a mammogram, 32% had not had a CBE, and 39% did not practice BSE.[254]
Three hundred and twelve women who were counseled and tested for BRCA pathogenic variants between 1997 and 2005 responded to a survey regarding their perception of genetic testing for hereditary breast and ovarian cancer. The survey included questions on risk reduction options, including screening and risk-reducing surgeries. Two hundred and seventeen (70%) of the women had been diagnosed with breast cancer, and 86 (28%) tested positive for a pathogenic variant in either the BRCA1 or BRCA2 gene. None of the BRCA-positive women agreed that mammograms are difficult procedures because of the discomfort, while 11 (5.4%) of the BRCA-negative women did agree with this statement. Both groups (BRCA-positive and BRCA-negative) agreed that risk-reducing surgeries provide the best means for lowering cancer risk and worry, and most patients in both groups expressed the belief that risk-reducing mastectomy is not too drastic, too scary, or too disfiguring.[255]
A prospective study from the United Kingdom examined the psychological impact of mammographic screening in 1,286 women aged 35 to 49 years who have a family history of breast cancer and were participants in a multicenter screening program. Mammographic abnormalities that required additional evaluation were detected in 112 women. These women, however, did not show a statistically significant increase in cancer worry or negative psychological consequences as a result of these findings. The 1,174 women who had no mammographic abnormality detected experienced a decrease in cancer worry and a decrease in negative psychological consequences compared with baseline after receipt of their results. At 6 months, the entire cohort had experienced a decrease in measures of cancer worry and psychological consequences of breast screening.[256]
A qualitative study explored health care professionals’ views regarding the provision of information about health protective behaviors (e.g., exercise and diet). Seven medical specialists and ten genetic counselors were interviewed during a focus group or individually. The study reported wide variation in the content and extent of information provided about health-protective behaviors and in general, participants did not consider it their role to promote such behaviors in the context of a genetic counseling session. There was agreement, however, about the need to form consensus about provision of such information both within and across risk assessment clinics.[257]
Not all studies specify whether screening uptake rates fall within recommended guidelines for the targeted population or the specific clinical scenario, nor do they report on other variables that may influence cancer screening recommendations. For example, women who have a history of atypical ductal hyperplasia would be advised to follow screening recommendations that may differ from those of the general population.
Psychosocial Outcome Studies
Risk-reducing mastectomy
A prospective study conducted in the Netherlands found that among 26 carriers of BRCA1/BRCA2 pathogenic variants, the 14 women who chose mastectomy had higher distress both before test result disclosure and 6 and 12 months later, compared with the 12 carriers who chose surveillance and compared with 53 women negative for a pathogenic variant. Overall, however, anxiety declined in women undergoing risk-reducing mastectomy (RRM); at 1 year, their anxiety scores were closer to those of women choosing surveillance and to the scores of women negative for a pathogenic variant.[258] Interestingly, women opting for RRM had lower pretest satisfaction with their breasts and general body image than carriers who opted for surveillance or noncarriers of BRCA1/BRCA2 pathogenic variants. Of the women who had a RRM, all but one did not regret the decision at 1 year posttest disclosure, but many had difficulties with body image, sexual interest and functioning, and self-esteem. The perception that doctors had inadequately informed them about the consequences of RRM was associated with regret.[258] At the 5-year follow-up, women who had undergone RRM had less favorable body image and changes in sexual relationships, but also had a significant reduction in the fear of developing cancer.[259] In a study of 78 women who underwent risk-reducing surgery (including BRCA1/BRCA2 carriers and women who were from high-risk families with no detectable BRCA1/BRCA2 pathogenic variant), cancer-specific and general distress were assessed 2 weeks before surgery and at 6 and 12 months postsurgery.[260] The sample included women who had RRM and RRSO alone and women who had both surgeries. There was no observable increase in distress over the 1-year period.
Mixed psychosocial outcomes were reported in a follow-up study (mean 14 years) of 609 women who received RRM at the Mayo Clinic. Seventy percent were satisfied with RRM, 11% were neutral, and 19% were dissatisfied. Eighteen percent believed that if they had the choice to make again, they probably or definitely would not have a RRM. About three-quarters said their worry about cancer was diminished by surgery. One-half reported no change in their satisfaction with body image; 16% reported improved body image after surgery. Thirty-six percent said they were dissatisfied with their body image after RRM. About one-quarter of the women reported adverse impact of RRM on their sexual relationships and sense of femininity, and 18% had diminished self-esteem. Factors most strongly associated with satisfaction with RRM were postsurgical satisfaction with appearance, reduced stress, no reconstruction or lack of problems with implants, and no change or improvement in sexual relationships. Women who cited physician advice as the primary reason for choosing RRM tended to be dissatisfied after RRM.[261]
A study of 60 healthy women who underwent RRM measured levels of satisfaction, body image, sexual functioning, intrusion and avoidance, and current psychological status at a mean of 4 years and 4 months postsurgery. Of this group, 76.7% had either a strong family history (21.7%) or carried a BRCA1 or BRCA2 pathogenic variant (55%). Overall, 97% of the women surveyed were either satisfied (17%) or extremely satisfied (80%) with their decision to have RRM, and all but one participant would recommend this procedure to other women. Most women (66.7%) reported that surgery had no impact on their sexual life, although 31.7% reported a worsening sexual life, and 76.6% reported either no change in body image or an improvement in body image, regardless of whether reconstruction was performed. Worsening self-image was reported by 23.3% of women after surgery. Women’s mean distress levels after surgery were only slightly above normal levels, although those women who continued to perceive their postsurgery breast cancer risk as high had higher mean levels of global and cancer-related distress than those who perceived their risk as low. Additionally, carriers of BRCA1 and BRCA2 pathogenic variants and women with a strong family history of breast and/or ovarian cancer had higher mean levels of cancer-related distress than women with a limited family history.[262]
Very little is known about how the results of genetic testing affect treatment decisions at the time of cancer diagnosis. Two studies explored genetic counseling and BRCA1/BRCA2 genetic testing at the time of breast cancer diagnosis.[24,218] One of these studies found that genetic testing at the time of diagnosis significantly altered surgical decision making, with more pathogenic variant carriers than noncarriers opting for bilateral mastectomy. Bilateral RRM was chosen by 48% of women with a known pathogenic variant [218] and by 100% of women with a known pathogenic variant in a smaller series [24] of women undergoing testing at the time of diagnosis. Of women in whom no pathogenic variant was found, 24% also opted for bilateral RRM. Four percent of the test decliners also underwent bilateral RRM. Among carriers of pathogenic variants, predictors of bilateral RRM included whether patients reported that their physicians had recommended BRCA1/BRCA2 testing and bilateral RRM before testing, and whether they received a positive test result.[218] Data are lacking on quality-of-life outcomes for women who undergo RRM after genetic testing that is performed at the time of diagnosis.
A prospective study from the Netherlands evaluated long-term psychological outcomes of offering women with breast cancer genetic counseling and, if indicated, genetic testing at the onset of breast radiation for treatment of their primary breast cancer. Of those who were approached for counseling, some underwent genetic testing and chose to receive their result (n = 58), some were approached but did not fulfill referral criteria (n = 118), and some declined the option of counseling/testing (n = 44). Another subset of women undergoing radiation therapy was not approached for counseling (n = 182) but was followed using the same measures. Psychological distress was measured at baseline and at 4, 11, 27, and 43 weeks after initial consultation for radiation therapy. No differences were detected in general anxiety, depression or breast cancer–specific distress across all four groups.[263]
A retrospective questionnaire study of 583 women with a personal and family history of breast cancer and who underwent contralateral RRM between 1960 and 1993 measured overall satisfaction after mastectomy and factors influencing satisfaction and dissatisfaction with this procedure.[264] The mean time of follow-up was 10.3 years after risk-reducing surgery. Overall, 83% of all participants stated they were satisfied or very satisfied, 8% were neutral, and 9% were dissatisfied with contralateral RRM. Most women also reported favorable effects or no change in their self-esteem, level of stress, and emotional stability after surgery (88%, 83%, and 88%, respectively). Despite the high levels of overall satisfaction, 33% reported negative body image, 26% reported a reduced sense of femininity, and 23% reported a negative effect on sexual relationships. The type of surgical procedure also affected levels of satisfaction. The authors attributed this difference to the high rate of unanticipated reoperations in the group of women having subcutaneous mastectomy (43%) versus the group having simple mastectomy (15%) (P < .0001). Limitations to this study are mostly related to the time period during which participants had their surgery (i.e., availability of surgical reconstructive option).[264,265] None of these women had genetic testing for pathogenic variants in the BRCA1/BRCA2 genes. Nevertheless, this study shows that while most women in this group were satisfied with contralateral RRM, all women reported at least one adverse outcome.
A retrospective survey of 137 BRCA carriers examined the psychosocial impact of preserving the nipple-areolar complex (NAC) in women with bilateral RRM.[266] The study found that body image and sexual well-being differed significantly based on the type of RRM the women underwent. Women with NAC preservation were more satisfied with their breasts (72% vs. 61%), were more satisfied with the surgical outcome (85% vs. 74%), and had greater sexual well-being (68% vs. 52%) than women without NAC preservation. No differences in cancer-related distress, anxiety, depression, or risk perceptions were observed between the two groups. Oncologic outcomes of nipple-sparing mastectomy in BRCA carriers have not been inferior to RRM without NAC preservation.[267] (Refer to the RRM section of this summary for more information.)
Another study compared long-term quality-of-life outcomes in 195 women after bilateral RRM performed between 1979 and 1999 versus 117 women at high risk of breast cancer opting for screening. No statistically significant differences were detected between the groups for psychosocial outcomes. Eighty-four percent of those opting for surgery reported satisfaction with their decision. Sixty-one percent of women from both the surgery and screening groups reported being very much or quite a bit contented with their quality of life.[268]
In a study of psychosocial outcomes associated with RRM and immediate reconstruction, 61 high-risk women (27 carriers of pathogenic variants, others with high-risk family history), 31 of whom had a prior history of breast cancer, were evaluated on average 3 to 4 years after surgery.[269] The study utilized questions designed to elicit yes versus no responses and found that the surgery was well-tolerated with 83% of participants reporting that the results of their reconstructive surgery were as they expected, 90% reporting that they had received adequate preoperative information, none reporting that they regretted the surgery, and all reporting that they would choose the same route if they had to do it again. Satisfaction with the results ranged from 74% satisfied with the shape of their breasts to 89% satisfied with the appearance of the scarring. Comparison of this group to normative samples on quality-of-life indicators (Short Form 36 Health Survey Questionnaire [SF-36]; Hospital Anxiety and Depression Scale questionnaire scores) indicated no reductions in quality of life in these women.
A qualitative study examining material on the FORCE website posted by 21 high-risk women (BRCA1/BRCA2 positive) undergoing RRM showed that these women anticipated and received negative reactions from friends and family regarding the surgery, and that they managed disclosure in ways to maintain emotional support and self-protection for their decision. Many of the women expressed a relief from intrusive breast cancer thoughts and worry, and were satisfied with the cosmetic result of their surgery.[270]
In contrast, another study examined long-term psychosocial outcomes in 684 women who had had bilateral or contralateral RRM on average 9 years before assessment.[271] A majority of women (59%) also had reconstructive surgery. Interestingly, based on a Likert scale, 85% of women reported that they were satisfied or very satisfied with their decision to have an RRM. However, in qualitative interviews, a large number of women went on to describe dissatisfaction or negative psychosocial outcomes associated with surgery. The authors coded the responses as negative when women reported still being anxious about their breast cancer risk and/or reported negative feelings about their body image, pain, and sexuality. Seventy-nine percent of the women providing negative comments and 84% of those making mixed comments (mixture of satisfaction and dissatisfaction) responded that they were either satisfied or very satisfied with their decision. Twice as many women with bilateral mastectomy made negative and mixed comments than did women with contralateral mastectomy. The areas of most concern were body image, problems with breast implants, pain after surgery, and sexuality. The authors proposed that those who had undergone contralateral procedures had already been treated for cancer, while those who had undergone bilateral procedures had not been treated previously, and this may partially account for the differences in satisfaction between the two groups. These findings suggest that women's satisfaction with RRM may be tempered by their complex reactions over time.
In a qualitative study of 108 women who underwent or were considering RRM, more than half of those who had RRM felt that presurgical consultation with a psychologist was advisable; nearly two-thirds thought that postsurgical consultation was also appropriate. All of the women who were considering RRM believed that psychological consultation before surgery would facilitate decision-making.[272]
Risk-reducing salpingo-oophorectomy
A retrospective self-administered survey of 40 women aged 35 to 74 years at time of RRSO (57.5% were younger than 50 y), who had undergone the procedure through the Ontario Ministry of Health due to a family history of ovarian cancer, found that RRSO resulted in a significant reduction in perceived ovarian cancer risk. Fifty-seven percent identified a decrease in perceived risk as a benefit of RRSO (35% did not comment on RRSO benefits) and 49% reported that they would repeat RRSO to decrease cancer risk. The overall quality-of-life scores were consistent with those published for women who are menopausal or participating in hormone studies.[273] Quality of life in 59 women who underwent RRSO was assessed at 24 months postprocedure.[274] Overall quality of life was similar to the general population and breast cancer survivors, with approximately 20% reporting depression. The 30% of subjects reporting vaginal dryness and dyspareunia were more likely to report dissatisfaction with the procedure.
A Canadian prospective study examined the impact of RRSO on menopausal symptoms and sexual functioning before surgery and then 1 year later in a sample of 114 women with known BRCA1/BRCA2 pathogenic variants.[275] Satisfaction with the decision to undergo RRSO was high regardless of symptoms reported. Those who were premenopausal at the time of surgery (n = 75) experienced a worsening of symptoms and a decline in sexual functioning. HRT addressed vaginal dryness and dyspareunia but not declines in sexual pleasure. HRT also resulted in fewer moderate to severe hot flashes.
Additional work reported by this group found that the majority of the 127 women who had undergone RRSO 1 year previously (75 with BRCA1 pathogenic variants; 52 with BRCA2 pathogenic variants) felt that RRSO reduced their risk of both breast and ovarian cancer.[276] There was a wide range of risk perceptions for ovarian cancer noted in the group. Twenty percent of carriers of BRCA1 and BRCA2 pathogenic variants thought that their risk of ovarian cancer was completely eliminated; others had an inflated perception of their ovarian cancer risk both before and after surgery. A small group of these women were further surveyed at about 3 years postsurgery, and their risk perceptions did not change significantly during this extended time period. These findings suggest that important misperceptions about ovarian cancer risk may persist after RRSO. Additional genetic education and counseling may be warranted.
A larger study assessed quality of life in women at high risk of ovarian cancer who opted for periodic gynecologic screening (GS) versus those who underwent RRSO. Eight hundred forty-six high-risk women, 44% of whom underwent RRSO and 56% of whom chose GS, completed questionnaires evaluating quality of life, cancer-specific distress, endocrine symptoms, and sexual functioning.[277] Women in the RRSO group were a mean of 2.8 ±1.9 years from surgery and women in the GS group were a mean of 4.3 years from their first visit to a gynecologist for high-risk management. No statistical difference in overall quality of life was detected between the RRSO and GS groups. When compared with the GS group, women who underwent RRSO had poorer sexual functioning and more endocrine symptoms such as vaginal dryness, dyspareunia, and hot flashes. Women who underwent RRSO experienced lower levels of breast and ovarian cancer distress and had a more favorable perception of cancer risk.
Women (N = 182) at risk of hereditary breast and ovarian cancer referred for genetic counseling were surveyed concerning their satisfaction with their choice of either RRSO or periodic screening (PS) (biannual pelvic examination with TVUS and CA-125 determination) to manage their ovarian cancer risk.[278] Overall satisfaction with both options was extremely high, but highest among those who chose RRSO over PS. There were no other demographic or clinical factors that distinguished satisfaction level. There was higher decisional ambivalence among those who chose PS.
A retrospective study assessed 98 carriers of BRCA pathogenic variants who underwent RRSO about their preoperative counseling regarding symptoms to expect after surgery.[279] The mean age at RRSO was 45.5 years (range, 32–63 y). Eighty-five percent pursued RRSO after learning that they harbored a BRCA pathogenic variant, and 48.0% were premenopausal at the time of surgery. Participants reported ‘‘frequent’’ or ‘‘very frequent’’ postsurgical symptoms of vaginal dryness (52.1%), changes in interest in sex (50.0%), sleep disturbances (46.7%), changes in sex life (43.9%), and hot flashes (42.9%). Only vaginal dryness and hot flashes were commonly recalled to have been addressed preoperatively. While 96% would have the surgery again, participants reported that the discussion of the impact of surgery on their sex life (59.2%), risk of coronary heart disease (57.1%), and the availability of sex counseling (57.1%) would have been helpful.
Behavioral Outcomes
A study [280] of screening behaviors of 216 self-referred, high-risk (>10% risk of carrying a BRCA1/BRCA2 pathogenic variant) women who are members of hereditary breast cancer families found a range of screening practices. Even the presence of known pathogenic variants in their families was not associated with good adherence to recommended screening practices. Sixty-nine percent of women aged 50 to 64 years and 83% of women aged 40 to 49 years had had a screening mammogram in the previous year. Twenty percent of participants had ever had a CA-125 test and 31% had ever had a pelvic ultrasound or TVUS. Further analysis of this study population [280] looking specifically at 107 women with informative BRCA test results found good use of breast cancer screening, though the uptake rate in younger carriers is lower. The reason for the lower uptake rate was not explored in this study.[281] One survey of screening behaviors among women at increased risk of breast/ovarian cancer identified physician recommendations as a significant factor in adherence to screening.[282]
While motivations cited for pursuing genetic testing often include the expectation that carriers of pathogenic variants will be more compliant with breast and/or ovarian screening recommendations,[280,283-285] limited data exist about whether participants in genetic testing alter their screening behaviors over time and about other variables that may influence those behaviors, such as insurance coverage and physician recommendations or attitudes. The impact of cancer genetic counseling on screening behaviors was assessed in a U.K. study of 293 women followed for 12 months postcounseling at four cancer genetics clinics.[286] BSE, CBE, and mammography were significantly increased after counseling; however, gaps in adherence to recommendations were noted: 38% of women aged 35 to 49 years had not had a mammogram by 12 months postcounseling. BSE was not done by most women at the recommended time and frequency.
This is a critical issue not only for women testing positive, but also for adherence to screening for those testing negative and those who have received indeterminate results or choose not to receive their results. It is possible that adherence actually diminishes with a decrease in the perceived risk that may result from a negative genetic test result.
In addition, while there is still some question regarding the link between cancer-related worry and breast cancer screening behavior, accumulating evidence appears to support a linear rather than a curvilinear relationship. That is, for some time, the data were not consistent; some data supported the hypothesis that mild-to-moderate worry may increase adherence, while excessive worry may actually decrease the utilization of recommended screening practices. Other reports support the notion that a linear relationship is more likely; that is, more worry increases adherence to screening recommendations. Few studies, however, have followed women to assess their health behaviors after genetic testing. Thus, a negative test result leading to decreased worry could theoretically result in decreased screening adherence. A large study found that patient compliance with screening practices was not related to general or screening-specific anxiety—with the exception of BSE, for which compliance is negatively associated with procedure-specific anxiety.[76] Further research designed to clarify this potential concern would highlight the need for comprehensive genetic counseling to discuss the need for follow-up screening.
Further complicating this area of research are issues such as the baseline rate of mammography adherence among women older than 40 or 50 years before genetic testing. More specifically, the ability to note a significant difference in adherence on this measure may be affected by the high adherence rate to this screening behavior before genetic testing by women undergoing such testing. It may be easier to find significant changes in mammography use among women with a family history of breast cancer who test positive. Finally, adherence over time will likely be affected by how women undergoing genetic testing and their caregivers perceive the efficacy of many of the screening options in question, such as mammography for younger women, BSE, and ovarian cancer screening (periodic vaginal ultrasound and serum CA-125 measurements), along with the value of preventive interventions.
The issue of screening decision-making and adherence among women undergoing genetic testing for breast and ovarian cancer is the subject of several ongoing trials, and an area of much needed ongoing study.
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- Geiger AM, Nekhlyudov L, Herrinton LJ, et al.: Quality of life after bilateral prophylactic mastectomy. Ann Surg Oncol 14 (2): 686-94, 2007. [PUBMED Abstract]
- Isern AE, Tengrup I, Loman N, et al.: Aesthetic outcome, patient satisfaction, and health-related quality of life in women at high risk undergoing prophylactic mastectomy and immediate breast reconstruction. J Plast Reconstr Aesthet Surg 61 (10): 1177-87, 2008. [PUBMED Abstract]
- Kenen RH, Shapiro PJ, Hantsoo L, et al.: Women with BRCA1 or BRCA2 mutations renegotiating a post-prophylactic mastectomy identity: self-image and self-disclosure. J Genet Couns 16 (6): 789-98, 2007. [PUBMED Abstract]
- Altschuler A, Nekhlyudov L, Rolnick SJ, et al.: Positive, negative, and disparate--women's differing long-term psychosocial experiences of bilateral or contralateral prophylactic mastectomy. Breast J 14 (1): 25-32, 2008 Jan-Feb. [PUBMED Abstract]
- Patenaude AF, Orozco S, Li X, et al.: Support needs and acceptability of psychological and peer consultation: attitudes of 108 women who had undergone or were considering prophylactic mastectomy. Psychooncology 17 (8): 831-43, 2008. [PUBMED Abstract]
- Elit L, Esplen MJ, Butler K, et al.: Quality of life and psychosexual adjustment after prophylactic oophorectomy for a family history of ovarian cancer. Fam Cancer 1 (3-4): 149-56, 2001. [PUBMED Abstract]
- Robson M, Hensley M, Barakat R, et al.: Quality of life in women at risk for ovarian cancer who have undergone risk-reducing oophorectomy. Gynecol Oncol 89 (2): 281-7, 2003. [PUBMED Abstract]
- Finch A, Metcalfe KA, Chiang JK, et al.: The impact of prophylactic salpingo-oophorectomy on menopausal symptoms and sexual function in women who carry a BRCA mutation. Gynecol Oncol 121 (1): 163-8, 2011. [PUBMED Abstract]
- Finch A, Metcalfe K, Lui J, et al.: Breast and ovarian cancer risk perception after prophylactic salpingo-oophorectomy due to an inherited mutation in the BRCA1 or BRCA2 gene. Clin Genet 75 (3): 220-4, 2009. [PUBMED Abstract]
- Madalinska JB, Hollenstein J, Bleiker E, et al.: Quality-of-life effects of prophylactic salpingo-oophorectomy versus gynecologic screening among women at increased risk of hereditary ovarian cancer. J Clin Oncol 23 (28): 6890-8, 2005. [PUBMED Abstract]
- Westin SN, Sun CC, Lu KH, et al.: Satisfaction with ovarian carcinoma risk-reduction strategies among women at high risk for breast and ovarian carcinoma. Cancer 117 (12): 2659-67, 2011. [PUBMED Abstract]
- Campfield Bonadies D, Moyer A, Matloff ET: What I wish I'd known before surgery: BRCA carriers' perspectives after bilateral salipingo-oophorectomy. Fam Cancer 10 (1): 79-85, 2011. [PUBMED Abstract]
- Isaacs C, Peshkin BN, Schwartz M, et al.: Breast and ovarian cancer screening practices in healthy women with a strong family history of breast or ovarian cancer. Breast Cancer Res Treat 71 (2): 103-12, 2002. [PUBMED Abstract]
- Peshkin BN, Schwartz MD, Isaacs C, et al.: Utilization of breast cancer screening in a clinically based sample of women after BRCA1/2 testing. Cancer Epidemiol Biomarkers Prev 11 (10 Pt 1): 1115-8, 2002. [PUBMED Abstract]
- Tinley ST, Houfek J, Watson P, et al.: Screening adherence in BRCA1/2 families is associated with primary physicians' behavior. Am J Med Genet A 125 (1): 5-11, 2004. [PUBMED Abstract]
- Lerman C, Seay J, Balshem A, et al.: Interest in genetic testing among first-degree relatives of breast cancer patients. Am J Med Genet 57 (3): 385-92, 1995. [PUBMED Abstract]
- Struewing JP, Lerman C, Kase RG, et al.: Anticipated uptake and impact of genetic testing in hereditary breast and ovarian cancer families. Cancer Epidemiol Biomarkers Prev 4 (2): 169-73, 1995. [PUBMED Abstract]
- Jacobsen PB, Valdimarsdottier HB, Brown KL, et al.: Decision-making about genetic testing among women at familial risk for breast cancer. Psychosom Med 59 (5): 459-66, 1997 Sep-Oct. [PUBMED Abstract]
- Watson M, Kash KM, Homewood J, et al.: Does genetic counseling have any impact on management of breast cancer risk? Genet Test 9 (2): 167-74, 2005. [PUBMED Abstract]
Changes to This Summary (10/18/2019)
The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.
Added text to state that while some studies have shown more benefit for breast cancer reduction in patients with BRCA2 versus BRCA1 pathogenic variants, others have shown no benefit for BRCA1 carriers. Additionally, many of the studies remain underpowered to demonstrate benefit (cited Kotsopoulos et al. as reference 81).
Added Owens et al. as reference 153.
Added text to state that in 2019, the American Society of Breast Surgeons published a recommendation to make genetic testing for “BRCA1/BRCA2, and PALB2, with other genes as appropriate for the clinical scenario and family history” available to all breast cancer patients (cited Manahan et al. as reference 155). This recommendation was based on a study that suggested similar pathogenic variant rates identified through an extended multigene panel in patients with breast cancer who did or did not meet the National Comprehensive Cancer Network (NCCN) guidelines for genetic testing (cited Beitsch et al. as reference 156). This study had important methodologic challenges that need to be considered. Also added text to state that other studies have also found that the NCCN criteria have good sensitivity when predicting BRCA1/BRCA2 variants. For example, one study showed that the NCCN criteria were able to detect 88.9% of the BRCA1/BRCA2 pathogenic variant carriers and others have found that, if more than one NCCN criterion is met, then the positive predictive value does pass the 10% threshold (cited Cropper et al. and Grindedal et al. as references 157 and 158, respectively).
Added text to state that, in general, multigene panel testing increases the yield of non-BRCA pathogenic variants across a variety of populations (cited Theobald et al., Weitzel et al., and Frey et al. as references 160, 177, and 178, respectively). Also added text to state that in a study of 77,085 patients with breast cancer and 6,001 patients with ovarian cancer, 24.1% and 30.9% had genetic testing, respectively. Of those tested, pathogenic or likely pathogenic variants were identified in 7.8% of patients with breast cancer and 14.5% of patients with ovarian cancer. Prevalent non-BRCA pathogenic variants identified in patients with breast cancer included CHEK2 , PALB2, ATM, and NBN. In patients with ovarian cancer, non-BRCA pathogenic variants included CHEK2, BRIP1, MSH2, and ATM (cited Kurian et al. as reference 184).
Revised Table 3 to include ATM as a moderate-penetrance gene for ovarian cancer.
Added text to state that nonfounder BRCA pathogenic variants in the Ashkenazi Jewish (AJ) population have been reported to be between 3% and 15% (cited Rosenthal et al. and Frey et al. as references 52 and 53, respectively).
Revised text to state that the likelihood of having any BRCA pathogenic variant among the general AJ population is between 1.1% and 2.5% (cited Metcalfe et al. as reference 65).
Revised text to state that the cumulative cancer risks in Peutz-Jeghers syndrome (PJS) have been estimated to be 32% to 54% for breast cancer and 21% for ovarian cancer (mainly ovarian sex-cord tumors). The risk for pancreatic cancer has been estimated to be more than 100-fold higher than that in the general population.
Revised text to state that heterozygous STK11 knockout mice develop hamartomas without inactivation of the remaining wild-type allele, suggesting that haploinsufficiency may be sufficient for initial tumor development in PJS.
Revised text to state that up to 30% of variants are large deletions involving one or more exons of STK11, underscoring the importance of deletion analysis in suspected cases of PJS.
Added text to state that some studies have shown an association between ATM and ovarian cancer (cited Lu et al. and Pennington et al. as references 61 and 62, respectively), although, at this time, there is no evidence to suggest an impact on risk management or disease characteristics.
Revised text to state that in addition to carriers of RAD51C pathogenic variants, there are other RAD51 paralogs, including RAD51B, RAD51D, RAD51L1, XRCC2, and XRCC3, that may be associated with breast and/or ovarian cancer risk (cited Golmard et al. as reference 83), although the clinical significance of these findings is unknown.
Added text to state that prospective studies are under way evaluating the impact of bilateral salpingectomy with delayed oophorectomy on patient satisfaction and the reduction in ovarian cancer (cited Nebgen et al. as reference 222).
The Systemic therapy in breast cancer treatment subsection was extensively revised.
The Systemic therapy in ovarian cancer treatment subsection was extensively revised.
Added text to state that a study of women with invasive breast cancer diagnosed before age 50 years found similar overall testing rates in Hispanic and non-Hispanic whites. However, testing rates were lower among Hispanics who spoke primarily Spanish at home and in general, Hispanics were less likely to have been referred for genetic testing (cited Cragun et al. as reference 45).
Added text to state that a cross-sectional study of 1,081 BRCA carriers revealed that a majority of carriers were in favor of offering preimplantation genetic testing and prenatal diagnosis to carriers (cited Chan et al. as reference 187). Of those who indicated that their families were not complete, 41% of BRCA carriers reported that their carrier status impacted their decision about future biological children. This study also revealed that 21.5% of unpartnered BRCA carriers felt more pressure to get married.
This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.
About This PDQ Summary
Purpose of This Summary
This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about the genetics of breast and gynecologic cancers. It is intended as a resource to inform and assist clinicians who care for cancer patients. It does not provide formal guidelines or recommendations for making health care decisions.
Reviewers and Updates
This summary is reviewed regularly and updated as necessary by the PDQ Cancer Genetics Editorial Board, which is editorially independent of the National Cancer Institute (NCI). The summary reflects an independent review of the literature and does not represent a policy statement of NCI or the National Institutes of Health (NIH).
Board members review recently published articles each month to determine whether an article should:
- be discussed at a meeting,
- be cited with text, or
- replace or update an existing article that is already cited.
Changes to the summaries are made through a consensus process in which Board members evaluate the strength of the evidence in the published articles and determine how the article should be included in the summary.
The lead reviewers for Genetics of Breast and Gynecologic Cancers are:
- Doreen Agnese, MD (The Ohio State University)
- Kathleen A. Calzone, PhD, RN, AGN-BC, FAAN (National Cancer Institute)
- Ilana Cass, MD (Dartmouth-Hitchcock Medical Center)
- Lee-may Chen, MD (UCSF Helen Diller Family Comprehensive Cancer Center)
- Mary B. Daly, MD, PhD (Fox Chase Cancer Center)
- Jennifer K. Litton, MD (University of Texas, M.D. Anderson Cancer Center)
- Suzanne M. O'Neill, MS, PhD, CGC
- Tuya Pal, MD, FACMG, FCCMG (Vanderbilt-Ingram Cancer Center)
- Beth N. Peshkin, MS, CGC (Lombardi Comprehensive Cancer Center at Georgetown University Medical Center)
- Susan K. Peterson, PhD, MPH (University of Texas, M.D. Anderson Cancer Center)
- Mary Beth Terry, PhD (Columbia University Mailman School of Public Health)
- Susan T. Vadaparampil, PhD, MPH (H. Lee Moffitt Cancer Center & Research Institute)
- Catharine Wang, PhD, MSc (Boston University School of Public Health)
Any comments or questions about the summary content should be submitted to Cancer.gov through the NCI website's Email Us. Do not contact the individual Board Members with questions or comments about the summaries. Board members will not respond to individual inquiries.
Levels of Evidence
Some of the reference citations in this summary are accompanied by a level-of-evidence designation. These designations are intended to help readers assess the strength of the evidence supporting the use of specific interventions or approaches. The PDQ Cancer Genetics Editorial Board uses a formal evidence ranking system in developing its level-of-evidence designations.
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The preferred citation for this PDQ summary is:
PDQ® Cancer Genetics Editorial Board. PDQ Genetics of Breast and Gynecologic Cancers. Bethesda, MD: National Cancer Institute. Updated <MM/DD/YYYY>. Available at: https://www.cancer.gov/types/breast/hp/breast-ovarian-genetics-pdq. Accessed <MM/DD/YYYY>. [PMID: 26389210]
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