Rates of bilateral mastectomy continue to increase in average-risk women with unilateral in situ and invasive breast cancer. Contralateral prophylactic mastectomy rates increased from 5% to 12% of ...all operations for breast cancer in the US from 2004 to 2012. Among women having mastectomy, rates of contralateral prophylactic mastectomy have increased from less than 2% in 1998 to 30% in 2012.
The increased use of breast magnetic resonance imaging and genetic testing has marginally increased the number of candidates for bilateral mastectomy. Most bilateral mastectomies are performed on women who are at no special risk for contralateral cancer. The true risk of contralateral breast cancer is not associated with the decision for contralateral prophylactic mastectomy; rather, the clinical factors associated with the probability of distant recurrence are associated with bilateral mastectomy. Several changes in society and health care delivery appear to act concurrently and synergistically. First, the anxiety engendered by a fear of cancer recurrence is focused on the contralateral cancer because this is most easily conceptualized and provides a ready target that can be acted upon. Second, the modern woman with breast cancer is supported by the surgeon and the social community of breast cancer survivors. Surgeons want to respect patient autonomy, despite guidelines discouraging bilateral mastectomy, and most women have their expenses covered by a third-party payer. Satisfaction with the results is high, but the association with improved psychosocial well-being remains to be fully understood.
Reducing the use of medically unnecessary contralateral prophylactic mastectomy in women with nonhereditary, unilateral breast cancer requires a social change that addresses patient-, physician-, cultural-, and systems-level enabling factors. Such a transformation begins with educating clinicians and patients. The concerns of women who want preventive contralateral mastectomy must be explored, and women need to be informed of the anticipated benefits (or lack thereof) and risks. Areas requiring further study are considered.
The combination of increased referral for genetic testing and the current shortage of genetic counselors has necessitated the development and implementation of alternative models of genetic ...counseling and testing for hereditary cancer assessment. The purpose of this scoping review is to provide an overview of the patient outcomes that are associated with alternative models of genetic testing and genetic counseling for hereditary cancer, including germline-only and tumor testing models. Seven databases were searched, selecting studies that were: (1) full-text articles published ≥2007 or conference abstracts published ≥2015, and (2) assessing patient outcomes of an alternative model of genetic counseling or testing. A total of 79 publications were included for review and synthesis. Data-charting was completed using a data-charting form that was developed by the study team for this review. Seven alternative models were identified, including four models that involved a genetic counselor: telephone, telegenic, group, and embedded genetic counseling models; and three models that did not: mainstreaming, direct, and tumor-first genetic testing models. Overall, these models may be an acceptable alternative to traditional models on knowledge, patient satisfaction, psychosocial measures, and the uptake of genetic testing; however, particular populations may be better served by traditional in-person genetic counseling. As precision medicine initiatives continue to advance, institutions should consider the implementation of new models of genetic service delivery, utilizing a model that will best serve the needs of their unique patient populations.
The purposes of this study were to estimate the reduction in risk of ovarian, fallopian tube, or peritoneal cancer in women with a BRCA1 or BRCA2 mutation after oophorectomy, by age of oophorectomy; ...to estimate the impact of prophylactic oophorectomy on all-cause mortality; and to estimate 5-year survival associated with clinically detected ovarian, occult, and peritoneal cancers diagnosed in the cohort.
Women with a BRCA1 or BRCA2 mutation were identified from an international registry; 5,783 women completed a baseline questionnaire and ≥ one follow-up questionnaires. Women were observed until either diagnosis of ovarian, fallopian tube, or peritoneal cancer, death, or date of most recent follow-up. Hazard ratios (HRs) for cancer incidence and all-cause mortality associated with oophorectomy were evaluated using time-dependent survival analyses.
After an average follow-up period of 5.6 years, 186 women developed either ovarian (n = 132), fallopian (n = 22), or peritoneal (n = 32) cancer, of whom 68 have died. HR for ovarian, fallopian, or peritoneal cancer associated with bilateral oophorectomy was 0.20 (95% CI, 0.13 to 0.30; P < .001). Among women who had no history of cancer at baseline, HR for all-cause mortality to age 70 years associated with an oophorectomy was 0.23 (95% CI, 0.13 to 0.39; P < .001).
Preventive oophorectomy was associated with an 80% reduction in the risk of ovarian, fallopian tube, or peritoneal cancer in BRCA1 or BRCA2 carriers and a 77% reduction in all-cause mortality.
Women with a germline pathogenic variant in the BReast CAncer susceptibility genes (
BRCA1
or
BRCA2
) have an increased risk of early-onset breast and ovarian cancer. In addition to weighing cancer ...screening and risk-reduction options, healthy BRCA mutation carriers of childbearing age may choose to preclude passing the mutation to the next generation. In the current study, we report on preimplantation genetic diagnosis (PGD) practices in BRCA-positive Israeli women who were offered PGD at no cost. Methods: we measured PGD uptake, decision satisfaction or regret, and predictors of uptake. Of the 70 participant female carriers, only 25.7% chose to use PGD to prevent transmission of the mutation, and were not predicted by age or religious affiliation. For those who chose IVF/PGD, satisfaction with the decision regarding IVF and PGD was significantly higher than those who did not have IVF and PGD (
p
< 0.04). Experiencing previous infertility was the only significant predictor of uptake of IVF/PGD (
p
< 0.001), which may suggest that BRCA status is secondary to infertility in the decision-making process for PGD in women with a BRCA mutation.
This is the first study to use generic distress, cancer-specific, and procedure-specific measures to prospectively evaluate psychological responses, body image, sexuality, and health-related quality ...of life in immediate compared with delayed breast reconstruction.
Consecutive patients undergoing autologous immediate and delayed breast reconstruction (June of 2009 to December of 2010) completed the Hospital Anxiety and Depression Scale, Body Image Scale, Sexuality Scale, and BREAST-Q preoperatively and postoperatively (6, 12, and 18 months). Linear mixed-effects analyses between each outcome and time point were performed.
One hundred six women underwent mastectomy with immediate (n = 30) and delayed breast reconstruction (n = 76). Before reconstruction, 26 percent of patients had abnormal anxiety scores and 9 percent had abnormal depression scores, with no significant differences between groups. Patients awaiting delayed breast reconstruction had significantly impaired prereconstruction body image (p = 0.01) and sexuality (p = 0.01) and worse satisfaction with breast (p < 0.01), psychological (p < 0.01), and sexual well-being (p < 0.01). At 18 months after immediate and delayed breast reconstruction, there was significant improvement in anxiety, depression, body image, sexuality, and health-related quality of life.
This single-center study shows that mastectomy with immediate breast reconstruction may protect breast cancer patients from a period of psychosocial distress, poor body image, and diminished sexual well-being compared with those waiting for delayed breast reconstruction. In patients who are oncologically eligible and strongly interested in breast reconstruction, efforts should be made to provide immediate breast reconstruction to decrease the interval of psychosocial distress, poor body image, and impaired sexuality.
There are two mutations in BRCA1 and one mutation in BRCA2 that are present in up to 2.5% of Ashkenazi Jewish women. Current guidelines for testing stipulate that a personal or family history of ...cancer be present to be eligible for testing. To date, population screening in this population has not been suggested. However, this may be rational. Little is known about the appropriateness of testing guidelines for the Jewish population or the level of interest in testing.
Eligible subjects were women who self-identified as Jewish, who were between the ages of 25 and 80 years, and who resided in Ontario. Subjects were recruited through an article in a national newspaper. Women were asked to complete a study questionnaire and a family history questionnaire and to provide a blood or saliva sample. The risk of carrying a BRCA mutation was estimated for each woman. Results A total of 2,080 women were enrolled onto the study. The overall mutation prevalence was 1.1% (0.5% for BRCA1 and 0.6% for BRCA2). Among the 22 mutation carriers, the mean estimate of carrying a BRCA mutation was 3.9%. Ten (45%) of the 22 women met the current Ontario Ministry of Health Guidelines criteria for testing.
There is considerable interest for genetic testing among Jewish women at low risk of carrying a mutation. However, many women with mutations are ineligible for genetic testing under current guidelines. Approximately 1% of Jewish women carry a BRCA mutation, and these women should be considered to be candidates for genetic testing.
Introduction
Nipple-sparing prophylactic mastectomy (PM) is an option for women at high-risk for breast cancer, and may offer better cosmetic results than a skin-sparing PM where the nipple-areolar ...complex (NAC) is removed. However, there may be residual breast cancer risk due to the maintained NAC. It is unclear if sparing the NAC with PM impacts on psychosocial functioning, including cancer-related distress and body image after PM.
Methods
This was a cross-sectional survey study of women who had undergone bilateral PM (no previous breast cancer) recruited through surgical or cancer genetics clinics. All women completed standardized questionnaires assessing cancer-related distress, anxiety, depression, satisfaction with decision, decision regret, and health-related quality of life related to breast surgery. Outcomes were compared between women with nipple-areola-sparing PM (NAC-PM) and skin-sparing PM (SS-PM).
Results
Overall, 137 women completed the study; 53 (39 %) had NAC-PM and 84 (61 %) had SS-PM. The mean age of the study population was 41.5 years standard deviation (SD) 8.8 and the mean time between PM and questionnaire completion was 50 months (SD 31). On the BREAST-Q, we found that women with NAC-PM had significantly higher levels of satisfaction with breasts (
p
=
0.01), satisfaction with outcome (
p
=
0.02), and sexual well-being (
p
< 0.001) compared with SS-PM. No statistically significant differences in total cancer-related distress (
p
=
0.89), anxiety (
p
=
0.86), or depression (
p
=
0.93) were observed between the two groups.
Conclusions
Overall, women with NAC-PM had better body image and sexual functioning compared with women with SS-PM, while both groups had comparable levels of cancer-related distress and perception of breast cancer risk.
The purpose of this study was to recontact individuals with clinically actionable test results identified through a retrospective research study and to provide a framework for laboratories to ...recontact patients.
Genetic testing was conducted on 2977 individuals originally referred for
and
hereditary breast and ovarian cancer testing that had a negative genetic test result. A gene panel was used to identify pathogenic variants in known or newly discovered genes that could explain the underlying cause of disease; however, analysis was restricted to
for the purposes of this study. A patient recontact decision tree was developed to assist in the returning of updated genetic test results to clinics and patients.
Novel clinically actionable pathogenic variants were identified in the
gene in 18 participants (0.6%), the majority of whom were recontacted with their new or updated genetic test results. Eight individuals were unable to be recontacted; five individuals had already learnt about their new or updated findings from genetic testing outside the context of this study; three individuals prompted cascade testing in family members; two individuals were deceased.
Novel pathogenic variants in
were identified in 18 individuals through retrospective gene panel testing. Recontacting these individuals regarding these new or updated findings had a range of outcomes. The process of conveying genomic results within this framework can be effectively accomplished while upholding patient autonomy, potentially leading to advantageous outcomes for patients and their families.
Purpose
To compare psychosocial function outcomes in early breast cancer patients treated with breast-conserving surgery (BCS), mastectomy alone (MA), and mastectomy with immediate breast ...reconstruction (IBR) at 1 year after surgery.
Methods
Early-stage (stage 0–2) breast cancer patients treated with BCS, MA, and IBR at the University Health Network, Toronto, Ontario, Canada between May 1 2015 and July 31 2016 were prospectively enrolled. Their changes in psychosocial functioning from baseline to 12 months following surgery were compared by using the BREAST-Q, Hospital Anxiety and Depression Scale, and Impact of Event Scale with ANOVA and linear regression.
Results
There were 303 early-stage breast cancer patients: 155 underwent BCS, 78 MA, and 70 IBR. After multivariable regression accounting for age, baseline score, income, education, receipt of chemoradiation or hormonal therapy, ethnicity, cancer stage, and unilateral versus bilateral surgery, breast satisfaction was highest in BCS (72.1, SD 19.6), followed by IBR (60.0, SD 18.0), and MA (49.9, SD 78.0) at 12 months,
p
< 0.001. Immediate breast reconstruction had similar psychosocial well-being (69.9, SD 20.6) compared with BCS (78.5, SD 20.6),
p
= 0.07. Sexual and chest physical well-being were similar between IBR, BCS, and MA,
p
> 0.05.
Conclusions
Our study found that in a multidisciplinary breast cancer centre where all three breast ablative and reconstruction options are available to early breast cancer patients, either BCS or IBR can be used to provide patients with a higher degree of satisfaction and psychosocial well-being compared with MA in the long-term.
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