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.

Use of Genetic Testing and Prophylactic Mastectomy and Oophorectomy in Women With Breast or Ovarian Cancer From Families With a BRCA1 or BRCA2 Mutation

2003 ◽  
Vol 21 (9) ◽  
pp. 1675-1681 ◽  
Author(s):  
Hanne Meijers-Heijboer ◽  
Cecile T.M. Brekelmans ◽  
Marian Menke-Pluymers ◽  
Caroline Seynaeve ◽  
Astrid Baalbergen ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Genetic Test ◽  
Prophylactic Mastectomy ◽  
Brca2 Mutation ◽  
Prophylactic Surgery ◽  
Primary Tumors ◽  
The Family ◽  
Brca1 Brca2 ◽  
Contralateral Mastectomy

Purpose: To analyze the use of genetic testing, prophylactic mastectomy, and oophorectomy among women with breast and/or ovarian cancer from families with a BRCA1 or BRCA2 mutation. Patients and Methods: We examined prospectively the use of BRCA1/BRCA2 testing in all women with a primary breast or ovarian cancer from a consecutive series of 112 high-risk families in which a BRCA1/BRCA2 mutation eventually was identified. The rate of prophylactic bilateral and contralateral mastectomy and prophylactic oophorectomy was analyzed in the women who carried a BRCA1/BRCA2 mutation and who had no metastatic disease at the time of the genetic test disclosure. We examined predictors for genetic test uptake and prophylactic surgery using univariate and multivariate analysis. Results: Overall, 192 of 220 women (87%) with primary tumors underwent genetic testing. Eleven of these 192 tested women (6%) appeared not to carry the family-specific BRCA1/BRCA2 mutation. Genetic testing occurred significantly more frequently at ages younger than 50 years (P = .04) and in persons with multiple primary tumors (P = .02). Among eligible women, 35 of 101 (35%) requested bilateral or contralateral mastectomy, and 47 of 95 (49%) requested oophorectomy. Women aged younger than 50 years and women who developed their first tumor after the initial identification of a BRCA1/BRCA2 mutation in the family were significantly (both P = .01) more likely to opt for prophylactic bilateral or contralateral mastectomy. Conclusion: In a clinical setting, we show a high demand for BRCA1/BRCA2 testing and for prophylactic surgery by women with breast and/or ovarian cancer from high-risk families.

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.

scholarly journals IMProving care After inherited Cancer Testing (IMPACT) study: protocol of a randomized trial evaluating the efficacy of two interventions designed to improve cancer risk management and family communication of genetic test results

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Deborah Cragun ◽  
Jason Beckstead ◽  
Meagan Farmer ◽  
Gillian Hooker ◽  
Marleah Dean ◽  
...  
Keyword(s):  
Risk Management ◽  
Genetic Testing ◽  
Family Communication ◽  
Genetic Test ◽  
Test Results ◽  
Impact Study ◽  
Inherited Cancer ◽  
Genetic Test Results ◽  
Cancer Risk Management

Abstract Background Implementing genetic testing for inherited cancer predisposition into routine clinical care offers a tremendous opportunity for cancer prevention and early detection. However, genetic testing itself does not improve outcomes; rather, outcomes depend on implemented follow-up care. The IMPACT study is a hybrid type I randomized effectiveness-implementation trial to simultaneously evaluate the effectiveness of two interventions for individuals with inherited cancer predisposition focused on: 1) increasing family communication (FC) of genetic test results; and 2) improving engagement with guideline-based cancer risk management (CRM). Methods This prospective study will recruit a racially, geographically, and socioeconomically diverse population of individuals with a documented pathogenic/likely pathogenic (P/LP) variant in an inherited cancer gene. Eligible participants will be asked to complete an initial trial survey and randomly assigned to one of three arms: A) GeneSHARE, a website designed to increase FC of genetic test results; B) My Gene Counsel’s Living Lab Report, a digital tool designed to improve understanding of genetic test results and next steps, including CRM guidelines; or C) a control arm in which participants continue receiving standard care. Follow-up surveys will be conducted at 1, 3, and 12 months following randomization. These surveys include single-item measures, scales, and indices related to: 1) FC and CRM behaviors and behavioral factors following the COM-B theoretical framework (i.e., capability, opportunity, and motivation); 2) implementation outcomes (i.e., acceptability, appropriateness, exposure, and reach); and 3) other contextual factors (i.e., sociodemographic and clinical factors, and uncertainty, distress, and positive aspects of genetic test results). The primary outcomes are an increase in FC of genetic test results (Arm A) and improved engagement with guideline-based CRM without overtreatment or undertreatment (Arm B) by the 12-month follow-up survey. Discussion Our interventions are designed to shift the paradigm by which individuals with P/LP variants in inherited cancer genes are provided with information to enhance FC of genetic test results and engagement with guideline-based CRM. The information gathered through evaluating the effectiveness and implementation of these real-world approaches is needed to modify and scale up adaptive, stepped interventions that have the potential to maximize FC and CRM. Trial registration This study is registered at Clinicaltrials.gov (NCT04763915, date registered: February 21, 2021). Protocol version September 17th, 2021 Amendment Number 04.

Extended follow-up in the COGENT study: A randomized study of in-person versus telephone disclosure of cancer genetic test results.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1504-1504
Author(s):  
Angela R. Bradbury ◽  
Linda J. Patrick-Miller ◽  
Brian L. Egleston ◽  
Susan M. Domchek ◽  
Olufunmilayo I. Olopade ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Usual Care ◽  
Medical Management ◽  
Genetic Test ◽  
Knowledge Gain ◽  
Test Results ◽  
Gene Panel Testing ◽  
Genetic Test Results ◽  
Secondary Analyses

1504 Background: Alternative delivery models are needed in the era of Precision Medicine given a shortage of genetic providers and increasing utilization of genetic testing. Telephone disclosure (TD) of genetic test results, including multi-gene panel testing, is non-inferior to usual care in-person disclosure (IPD) for short-term distress but failed non-inferiority for knowledge. Longitudinal data including health behaviors are needed. Methods: 970 patients undergoing clinical genetic testing at 5 centers were randomly assigned to usual care IPD (n = 497) or TD (n = 473) of results in the COGENT Study (NCT01736345). Participants completed surveys after pre-test counseling, post-disclosure and at 6 and 12 months. We used non-inferiority tests for primary analyses and T-tests and logistic regressions for secondary analyses. Results: TD was not worse than IPD for anxiety both post-disclosure and at 6 months, but did not reach the non-inferiority threshold for knowledge at either time point. In secondary analyses there were no significant differences in anxiety, depression, or cancer worry between arms, but there was less knowledge gain at 6 (-0.41 v. +0.11 in IPD, p = 0.05) and 12 months (-0.34 v. +0.31 in IPD, p = 0.05) in the TD arm. In the TD arm, 195 (50%) returned for clinical follow-up with a physician to discuss medical management. Not returning for follow-up varied by site and was associated with a negative result, being male and non-white. Knowledge gain at 6 months was lower for those who did not return for follow-up (-0.77) compared to those who returned (-0.17, p = 0.08). There were no significant differences by arm at 6 and 12 months in performance of mammogram, breast MRI, colonoscopy or prophylactic surgeries. Conclusions: Distress is not unacceptably worse with TD, but knowledge failed the test for non-inferiority. Longitudinal knowledge declined more for those who did not return for medical follow-up, but uptake of screening and risk reducing behaviors did not differ by arm. Telephone disclosure of genetic test results, even MGPT, may be a reasonable alternative to in-person disclosure for patients who agree to return to meet with a provider for medical management recommendations. Clinical trial information: NCT01736345.

Intention to communicate BRCA1/BRCA2 genetic test results to the family.

2008 ◽  
Vol 22 (2) ◽  
pp. 303-312 ◽  
Author(s):  
Andrea M. Barsevick ◽  
Susan V. Montgomery ◽  
Karen Ruth ◽  
Eric A. Ross ◽  
Brian L. Egleston ◽  
...  
Keyword(s):  
Genetic Test ◽  
Test Results ◽  
Genetic Test Results ◽  
The Family ◽  
Brca1 Brca2

Performance of mutation risk prediction models in a racially diverse multi-gene panel testing cohort.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1523-1523
Author(s):  
Gregory Idos ◽  
Katherine G Roth ◽  
Leah Naghi ◽  
Charite Nicolette Ricker ◽  
Julie Culver ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Genetic Testing ◽  
Prediction Models ◽  
Brca2 Mutation ◽  
Pathogenic Mutation ◽  
Gene Panel ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Brca1 Brca2 ◽  
Racial Ethnic

1523 Background: Mutation carrier prediction models are clinically useful tools for identifying candidates for genetic counseling and testing. Consensus guidelines recommend germline genetic testing for those with a carrier probability (CP) of approximately 5% or higher. However, prediction models may perform less well among racial/ethnic minorities. Our hypothesis is that pathogenic mutations (PM) are identifiable in a clinically meaningful fraction of racially/ethnically diverse patients with a CP of < 5%. Methods: We conducted a multicenter prospective clinical trial of patients undergoing cancer-risk assessment using a 25 gene panel, which include APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. Patients were recruited from August 2014 to November 2016 at three centers. Patients were enrolled if they met standard clinical criteria for genetic testing or were predicted to have a ≥2.5% probability of inherited cancer susceptibility using validated prediction models. We evaluated the CP of patients with a PM in BRCA1, BRCA2, and/or a mismatch repair (MMR) gene using the following models: (1) BRCApro, (2) MMRpro and (3) PREMM1,2,6. Results: Of 2000 patients enrolled in this cohort, 80.6% are female (n = 1612). Regarding race/ethnicity, the cohort is 40.1% Non-Hispanic White (n = 802), 37.4% Hispanic (n = 748), 11.5% Asian (n = 230), 3.9% Black (n = 78), and 7.1% Other (n = 142). Among 241 (12.1%) patients who tested positive for a pathogenic mutation, 76 (31.5%) patients had a BRCA1 or BRCA2 mutation. Of those, 52 (68.4%) patients had a BRCApro CP of < 5%. Thirty-eight (15.8%) patients had a pathogenic mutation in an MMR gene: 19 (50.0%) had an MMRpro CP of < 5%, while 13 (34.2%) had a PREMM1,2,6 CP of < 5%. The racial/ethnic distribution of BRCA1/2 or MMR mutation carriers is similar to that of the whole cohort. Conclusions: In a diverse cohort of patients undergoing 25-gene multiple-gene panel testing, half or more carriers of BRCA1/2 or MMR mutations had a CP of < 5%, the consensus guideline-recommended cutoff for genetic testing. These results support a lower threshold for genetic testing guidelines. Clinical trial information: NCT02324062.

Prospective study of pain outcomes associated with contralateral prophylactic mastectomy in women with nonhereditary breast cancer.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 6587-6587
Author(s):  
Demetria Joy Smith-Graziani ◽  
Patricia A. Parker ◽  
Susan K. Peterson ◽  
Isabelle Bedrosian ◽  
Yu Shen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Black Women ◽  
Repeated Measures ◽  
White Women ◽  
Prophylactic Mastectomy ◽  
Contralateral Prophylactic Mastectomy ◽  
Mean Difference ◽  
Pain Severity ◽  
Pain Outcomes ◽  
Race Ethnicity

6587 Background: Women with nonhereditary breast cancer are increasingly undergoing contralateral prophylactic mastectomy (CPM). We examined pain severity and the impact of pain on the lives of women who underwent CPM compared to those who did not. We also examined the associations between age, race/ethnicity, reconstruction and pain outcomes. Methods: Between 2012 and 2015, we recruited women with newly diagnosed nonhereditary breast cancer who were planned for surgery. We assessed pain with the Brief Pain Inventory at initial surgical consultation and at 1, 6, 12, and 18 months after surgery. The repeated measures model was used to assess the association between pain severity or interference and CPM status over different time points adjusting for other covariates. Results: Of 288 women enrolled (mean age 56 years, 58% non-Hispanic White, 17% non-Hispanic Black), 50 underwent CPM, 163 had unilateral mastectomy, and 75 had breast conserving surgery. Mean pain severity was higher at 1 month (2.78 vs 1.9, p = .01) and 6 months (2.79 vs 1.96, p = .03) after surgery in women with CPM versus those without. In the multivariable repeated measures model adjusted for time, age, race/ethnicity and reconstruction status, there was a significant interaction between time and CPM for pain severity (p < .01) but not interference (p = .13). This suggests that CPM patients had higher pain severity in the first 6 months after surgery, but their pain scores decreased by 12 months becoming similar to women without CPM. Black women had higher pain severity (mean difference 1.35, standard error [SE] 0.35; p < .01) and interference (mean difference 0.91, SE 0.32; p < .01) compared to White women with or without CPM. There was no association between age or reconstruction status and pain severity or interference. Conclusions: Pain severity in patients undergoing CPM is highest during the first 6 months after surgery. Women considering CPM should be counseled about this potential outcome. Race/ethnic disparities exist in pain management, pain perceptions and communication of pain. Black women undergoing breast surgery report worse pain outcomes than White women regardless of CPM status.

Sign in / Sign up

Export Citation Format

Share Document