Association Between Genetic Testing for Hereditary Breast Cancer and Contralateral Prophylactic Mastectomy Among Multiethnic Women Diagnosed With Early-Stage Breast Cancer

2021 ◽  
Author(s):  
Vicky Ro ◽  
Julia E. McGuinness ◽  
Boya Guo ◽  
Meghna S. Trivedi ◽  
Tarsha Jones ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Breast Cancer Survivors ◽  
Genetic Test ◽  
Prophylactic Mastectomy ◽  
Early Stage ◽  
Multivariable Analysis ◽  
Contralateral Prophylactic Mastectomy ◽  
Test Results ◽  
Genetic Test Results

PURPOSE Increasing usage of multigene panel testing has identified more patients with pathogenic or likely pathogenic (P or LP) variants in low-moderate penetrance genes or variants of uncertain significance (VUS). Our study evaluates the association between genetic test results and contralateral prophylactic mastectomy (CPM) among patients with breast cancer. METHODS We conducted a retrospective cohort study among women diagnosed with unilateral stage 0-III breast cancer between 2013 and 2020 who underwent genetic testing. We examined whether genetic test results were associated with CPM using multivariable logistic regression models. RESULTS Among 707 racially or ethnically diverse women, most had benign or likely benign (B or LB) variants, whereas 12.5% had P or LP and 17.9% had VUS. Racial or ethnic minorities were twice as likely to receive VUS. Patients with P or LP variants had higher CPM rates than VUS or B or LB (64.8% v 25.8% v 25.9%), and highest among women with P or LP variants in high-penetrance genes (74.6%). On multivariable analysis, P or LP compared with B or LB variants were significantly associated with CPM (odds ratio = 4.24; 95% CI, 2.48 to 7.26). CONCLUSION Women with P or LP variants on genetic testing were over four times more likely to undergo CPM than B or LB. Those with VUS had similar CPM rates as B or LB. Our findings suggest appropriate genetic counseling and communication of cancer risk to multiethnic breast cancer survivors.

Integration of germline multigene panel testing into breast and gynecologic oncology clinics.

2021 ◽  
Vol 39 (28_suppl) ◽  
pp. 164-164
Author(s):  
Mariella Tejada ◽  
June YiJuan Hou ◽  
Katherine D. Crew ◽  
Melissa Kate Accordino ◽  
Kevin Kalinsky ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Decision Making ◽  
Genetic Testing ◽  
Clinical Decision Making ◽  
Genetic Test ◽  
Gynecologic Oncology ◽  
Clinical Decision ◽  
Test Results ◽  
Panel Testing ◽  
Genetic Test Results

164 Background: Germline genetic testing plays an important role in informing cancer screening and risk-reducing strategies, as well as treatment decisions with PARP inhibitors for BRCA-associated malignancies. Referrals to clinical genetics for pre-test counseling and results disclosure can be delayed due to financial and logistical barriers, which may ultimately delay clinical decision-making. Our study objective was to understand patient attitudes, knowledge, and anxiety/distress with point-of-care (POC) genetic testing in breast and gynecologic oncology clinics. Methods: We enrolled patients with early-stage breast cancer undergoing neoadjuvant treatment, metastatic breast cancer, ovarian cancer, or endometrial cancer undergoing POC multigene panel testing with their primary oncologist, rather than a genetic counselor. Pre-test counseling came from discussion with their primary oncologist. Participants completed a survey at time of genetic testing and one after return of genetic test results. Validated measures of genetic testing knowledge, cancer-related distress, and attitudes towards genetic testing were included. Descriptive statistics were generated for all data collected and paired t-tests were conducted for baseline and follow-up comparisons. Results: We enrolled 106 subjects, of which 97 completed the baseline survey. All participants were female with a mean age of 61.5 years (SD 13.5). The cohort consisted of participants with the following tumor types: 80 breast, 2 ovarian, and 16 endometrial. Almost 44% of women identified as Hispanic/Latina, 55% had highest level of education of community/technical college or less, and 51.2% reported annual incomes of less than $50,000. Forty-seven percent of participants had adequate baseline genetic testing knowledge scores (defined as at least 50% correct responses). A majority of participants (86.6%) had positive attitudes toward undergoing genetic testing. Results of genetic testing revealed 11 participants (11.3%) with pathogenic or likely pathogenic variants (of which 36.3% were in BRCA1/2), 25 (25.8%) with variants of unknown significance (VUS), and 61 (62.9%) with benign or likely benign results. The mean cancer-related distress score (scale from 15 to 60, higher score indicates higher levels of distress) was 32.78 (SD 9.74) at baseline and 26.5 (SD 8.9) after receiving genetic testing results (p = 0.002). Genetic test results informed cancer treatment decisions regarding medications and surgery in 15% and 13% of patients, respectively, the majority of which were breast cancer patients. Conclusions: As genetic testing is more frequently used for clinical decision-making it is important to develop ways to efficiently integrate POC testing in the oncology clinics. We demonstrated that POC genetic testing for breast and gynecologic cancers is feasible and can inform clinical decision-making.

Contralateral prophylactic mastectomy decision-making in the population-based iCanCare study of early-stage breast cancer patients.

2016 ◽  
Vol 34 (7_suppl) ◽  
pp. 177-177
Author(s):  
Reshma Jagsi ◽  
Sarah T. Hawley ◽  
Kent A. Griffith ◽  
Nancy K. Janz ◽  
Allison W. Kurian ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Decision Making ◽  
Family History ◽  
Prophylactic Mastectomy ◽  
Early Stage ◽  
Multivariable Analysis ◽  
Contralateral Prophylactic Mastectomy ◽  
Population Based ◽  
Early Stage Breast Cancer ◽  
Increased Risk

177 Background: Contralateral prophylactic mastectomy (CPM) use is increasing in women who are not at increased risk of contralateral cancer development and will experience no survival benefit from the more morbid procedure. Little is known about treatment decision-making or provider interactions. Methods: We surveyed a weighted random sample of newly diagnosed patients with early-stage breast cancer who were treated in 2013-14, identified through the population-based SEER registries of Los Angeles and Georgia about 3 months after surgical treatment, and merged with SEER data (N=2632, RR=70%), to determine receipt of diagnostic tests and factors related to the decision about surgery (including knowledge and perceived physician recommendation). Results: Nearly half of 2,436 respondents with unilateral non-metastatic cancer considered CPM (25% strongly). Only 37% of those who considered CPM knew that it does not improve survival for all women with breast cancer (24% believed it does, 39% didn’t know). Among women receiving CPM, 37% believed it generally improves survival. Ultimately, 1,464 (60%) received BCS and 972 (40%) mastectomy (of whom 438, or 18% overall, received CPM). On multivariable analysis, pts who received CPM were younger, more likely to be white, and more likely to have a family history, private rather than Medicaid insurance, and received MRI. Even among pts without a deleterious genetic mutation or family history in multiple relatives (2,303), 400 (17%) received CPM. CPM was uncommon among pts who reported that their surgeons recommended against it (2.0% [17/832]) but much higher among those who reported no surgeon recommendation regarding CPM (21.3% [229/1,077]), and among those who perceived their surgeons to have recommended it (55.4% [147/265]). Conclusions: Many patients consider CPM, but knowledge is low. Use of CPM is substantial among patients without clinical indications but is low when patients report their surgeon recommended against it. In the context of shared decision-making, surgeon recommendations against CPM might help reduce potential overtreatment.

Racial differences in the use of contralateral prophylactic mastectomy among women undergoing BRCA1/BRCA2 genetic testing

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. 6542-6542
Author(s):  
K. Ready ◽  
A. M. Gutierrez-Barrera ◽  
J. Litton ◽  
F. Meric-Bernstam ◽  
A. M. Gonzalez-Angulo ◽  
...  
Keyword(s):  
Genetic Testing ◽  
African Americans ◽  
Genetic Test ◽  
Prophylactic Mastectomy ◽  
Brca2 Mutation ◽  
Contralateral Prophylactic Mastectomy ◽  
Genetic Test Results ◽  
Race Ethnicity ◽  
Brca1 Brca2

6542 Background: Patients often use both positive and negative BRCA1/BRCA2 genetic test results to aid in surgical management decisions, but little is known about the existence of racial/ethnic differences in the use of genetic test results. The objective of this study was to evaluate differences in rates of contralateral prophylactic mastectomy (CPM) by race. Methods: A retrospective chart review was performed. Women with a personal history of breast cancer who underwent genetic testing for the BRCA1 and BRCA2 genes at our institution between 1996 and 2008 and were eligible for CPM were included in the study. Genetic test result, race/ethnicity as reported by the patient, years of follow-up since receipt of test result, and decision regarding CPM were recorded. Pearson chi square analyses and Fisher's exact tests were performed to test for significance. Results: 881 women were included in the study. Twenty percent (n = 180) were found to have a BRCA1 or BRCA2 mutation, while 80% (n = 701) were found to have an uninformative negative result. The study population was 87% (n = 771) Caucasian; 7% (n = 58) African American; and 6% (n = 52) Hispanic. Median follow up time was 3 years. There were no significant differences in either follow up time or percentages of BRCA positivity, based on race/ethnicity. Among those with a positive result, 45% (67/149) of Caucasians, 33% (5/15) of African Americans, and 50% (8/16) of Hispanics underwent CPM, but this was not statistically significant. Caucasians and Hispanics with positive results were significantly more likely than their counterparts with negative results to undergo CPM (Caucasians, 45%; 67/149 vs. 16%; 101/622; p<.001; Hispanics, 50%; 8/16 vs. 11%; 4/36; p = 0.004), but this same trend was not observed among African Americans (positive results, 33%; 5/15 vs. negative results, 14%; 6/43; p = 0.10). Conclusions: Among those with a BRCA1/BRCA2 mutation, there does not appear to be any significant difference in the use of CPM based on race/ethnicity. However, Caucasians and Hispanics appear to be more likely than African Americans to use the results of genetic testing to make surgical management decisions. No significant financial relationships to disclose.

Contralateral breast cancer: Effect of stage on survival after unilateral breast cancer.

2012 ◽  
Vol 30 (27_suppl) ◽  
pp. 69-69
Author(s):  
Lori Uyeno ◽  
Carolyn E. Behrendt ◽  
Laura Kruper ◽  
Steven L. Chen ◽  
Courtney Vito
Keyword(s):  
Breast Cancer ◽  
African American ◽  
African American Women ◽  
Breast Cancer Survivors ◽  
Contralateral Breast Cancer ◽  
Prophylactic Mastectomy ◽  
Early Stage ◽  
Contralateral Breast ◽  
Advanced Stage ◽  
The Impact

69 Background: Contralateral breast cancer (CBC) is the most common malignancy among breast cancer survivors. We investigated the impact of CBC on overall survival (OS) after unilateral primary breast cancer (UPBC) in women treated with mastectomy. Methods: Using the Surveillance Epidemiology End Results registry, we identified women age 25-80 diagnosed 1998-2006 with UPBC stage 0-III, treated with mastectomy and free of CBC at 1-year landmark. Subjects were split into test and validation samples. Follow-up continued until the earliest occurrence: death, end of 2008, or age 85. Primary risk factor was incident CBC, a time-dependent variable categorized as advanced-stage (IIB-IV), early-stage (0-IIA), or none. Proportional hazards regression adjusted for primary tumor characteristics, treatment including contralateral prophylactic mastectomy (CPM), demographics, and aging. Results: Subjects (n= 109,411, age 53.7[+12.7] years at UPBC diagnosis) were followed median 51 months. Most UPBC were early stage (63%), moderately/poorly differentiated (78%), ER+PR+ (52%). Few (9.8%) women underwent CPM at primary diagnosis. Incident CBC (n=867, 0.79%) was diagnosed median 23.5 (95% CI 1.2-72) months beyond the 1-year landmark. Test and validation samples did not differ. Only CBC of stage IIB-IV increased mortality; early stage CBC had no effect on OS. Among CBC cases, advanced stage was independently associated with aggressive UPBC (more positive nodes; larger tumor; greater extension), African-American race, and shorter time from UPBC. Conclusions: Among women who undergo mastectomy +/-CPM for UPBC, few develop CBC, which impacts survival only when diagnosed at advanced stage. Efforts to improve survival after UPBC should emphasize earlier detection and prevention of advanced-stage CBC, especially in African-American women and women with more aggressive UPBC. [Table: see text]

Taking control of cancer: Women’s choice for mastectomy.

2013 ◽  
Vol 31 (31_suppl) ◽  
pp. 11-11
Author(s):  
Andrea Marie Covelli ◽  
Nancy Baxter ◽  
Margaret Fitch ◽  
Frances Catriona Wright
Keyword(s):  
Breast Cancer ◽  
Decision Making ◽  
Prophylactic Mastectomy ◽  
Early Stage ◽  
Qualitative Interviews ◽  
Contralateral Prophylactic Mastectomy ◽  
Active Role ◽  
Breast Conserving Surgery ◽  
Fear Of Recurrence ◽  
Extensive Surgery

11 Background: Rates of both unilateral (UM) and contralateral prophylactic mastectomy (CPM) for early stage breast cancer (ESBC) have been increasing since 2003. Studies suggest that the increase is due to women playing an active role in decision-making. We do not know what factors are influencing the choice for more extensive surgery. Methods: To identify these factors we completed a multi-method study; conducting a systematic review of quantitative literature and qualitative interviews. Decision-making literature was identified from 5 databases and underwent thematic analysis. Purposive sampling identified women across the Toronto Area (Ontario, Canada), who were suitable candidates for breast conserving surgery (BCS) but underwent UM or CPM. Data saturation was achieved after 29 in-person interviews. Constant comparative analysis identified key concepts and themes. Results: ‘Taking control of cancer’ was the dominant theme. Literature illustrated that patients markedly overestimate risk of local recurrence, contralateral cancer and particularly, mortality. Similarly, interviews revealed that fear of breast cancer was expressed at diagnosis and drives the decision-making process. Despite surgeons discussing survival equivalence of BCS and UM, patients chose UM due to fear of recurrence and an overestimated survival advantage. Similarly, patients chose CPM to eliminate contralateral cancer and a misperceived survival benefit. Women were actively trying to Control Outcomes, as more surgery was believed to offer greater survival and therefore greater control. Conclusions: Both the literature and our interviews have illustrated that women seek UM and CPM for treatment of their ESBC to manage their fear of cancer mortality by undergoing more extensive surgery; this in turn drives mastectomy rates. It is important to understand this process so that we may improve our ability to communicate issues of importance to women and facilitate informed decision-making.

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