scholarly journals The big reveal: Family disclosure patterns of BRCA genetic test results among young Black women with invasive breast cancer

2020 ◽  
Vol 29 (3) ◽  
pp. 410-422 ◽  
Author(s):  
Claire C. Conley ◽  
Dana Ketcher ◽  
Maija Reblin ◽  
Monica L. Kasting ◽  
Deborah Cragun ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Black Women ◽  
Invasive Breast Cancer ◽  
Genetic Test ◽  
Test Results ◽  
Genetic Test Results ◽  
Young Black Women ◽  
Disclosure Patterns

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.

scholarly journals Communication Between Breast Cancer Patients Who Received Inconclusive Genetic Test Results and Their Daughters and Sisters Years After Testing

2015 ◽  
Vol 25 (3) ◽  
pp. 461-471 ◽  
Author(s):  
Jessica E. Baars ◽  
Margreet G. E. M. Ausems ◽  
Els van Riel ◽  
Marijke C. Kars ◽  
Eveline M. A. Bleiker
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Genetic Test ◽  
Test Results ◽  
Breast Cancer Patients ◽  
Genetic Test Results

Communication with Family Members about Positive BRCA1/2 Genetic Test Results in Korean Hereditary Breast Cancer Families

2011 ◽  
Vol 8 (2) ◽  
pp. 105-112 ◽  
Author(s):  
Eunyoung Kang ◽  
Sue K. Park ◽  
Ku Sang Kim ◽  
Doo Ho Choi ◽  
Seok-Jin Nam ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Genetic Test ◽  
Family Members ◽  
Test Results ◽  
Genetic Test Results

Cancer risk management and family communication of genetic test results among women with inherited breast cancer genes.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1532-1532
Author(s):  
Tuya Pal ◽  
Anne Weidner ◽  
Ann Tezak ◽  
Kate Clouse ◽  
Deborah Cragun
Keyword(s):  
Breast Cancer ◽  
Family Communication ◽  
Genetic Test ◽  
Bilateral Mastectomy ◽  
Test Results ◽  
Genetic Test Results ◽  
Family Testing ◽  
Inherited Breast Cancer ◽  
History Of ◽  
Risk Reducing

1532 Background: Identification of inherited breast cancer may guide care, with benefits amplified through family testing. Methods: Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about cancer risk management, family communication of genetic test results, and family testing. Comparisons were made across genes. Results: The 235 participants with P/LP variants (186 BRCA1/2, 28 PALB2, 15 CHEK2, and 6 ATM) had a median age of 54 and 61% had a prior breast cancer diagnosis. For women with P/LP variants in BRCA1/2, PALB2, and ATM/CHEK2, bilateral mastectomy rates were 79%, 61%, and 52%, respectively; and risk-reducing oophorectomy rates were 89%, 30%, and 37%, respectively. All women with PALB2 and ATM/CHEK2 P/LP variants with a bilateral mastectomy had a personal or family history of breast cancer; however, only 27% of those with a risk-reducing oophorectomy had a family history of ovarian cancer. Family communication of genetic test results and family testing rates were higher for those with P/LP variants in BRCA1/2 compared to others. Conclusions: Bilateral mastectomy and risk-reducing oophorectomy were relatively common among women with PALB2 and ATM/CHEK2 P/LP variants in our study, suggesting overtreatment through risk-reducing surgery. Furthermore, strategies to improve family communication of genetic test results and family testing are needed to amplify testing benefits.

BRCA testing concordance with national guidelines for patients with breast cancer in community cancer programs.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1526-1526
Author(s):  
Leigh Boehmer ◽  
Latha Shivakumar ◽  
Christine B. Weldon ◽  
Julia Rachel Trosman ◽  
Stephanie A. Cohen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
High Risk ◽  
Genetic Test ◽  
Breast Conserving Surgery ◽  
Test Results ◽  
Cancer Genes ◽  
National Guidelines ◽  
Genetic Test Results ◽  
The Impact

1526 Background: Current National Comprehensive Cancer Network guidelines for genetic/familial high-risk assessment state that testing for highly penetrant breast/ovarian cancer genes is clinically indicated for women with early onset (≤ 45 years) or metastatic HER-2 negative breast cancer. A recent Association of Community Cancer Centers (ACCC) survey (N = 95) showed that > 80% of respondents reported ≤ 50% testing rate of patients with breast cancer who met guidelines. Given this disconnect, ACCC partnered with 15 community cancer programs to assess practice gaps and support interventions to improve access to genetic counseling (GC)/testing. Methods: Pre-intervention data from 9/15 partner programs for women diagnosed with stages 0-III breast cancer between 01/01/2017 and 06/30/2019 was collected. De-identified variables included: family history documentation, GC appointment/test results, and timing of results relative to treatment decisions. Results: There were 2691 women with stages 0-III breast cancer. Forty-eight percent (1284/2691) had a documented high-risk family history, 57% (729/1284) of whom had a GC appointment. This was a significantly higher rate of GC compared to the 23% (181/778) of women with no family history and 6% (35/629) of women with no documentation of family history (p < 0.0001). Patients ≤ 45 years old attended a GC appointment 72% (199/278) of the time and 49% (135/278) had genetic test results, with 84% (113/135) receiving results before surgery. For women with test results available before surgery, 37% (119/322) had breast conserving surgery, compared to 60% (144/240) with test results disclosed post-operatively (p < 0.0001). Conclusions: Genetic testing is underutilized in a community cohort of women with breast cancer. Further analysis is needed to understand the impact genetic test results have on surgical decisions. Opportunities exist to improve current rates of appropriate GC/testing. ACCC will share results of quality improvement projects to illuminate which strategies hold promise in reducing the hereditary breast cancer GC/testing practice gap.

Abstract A71: BRCA mutations and surgical decision making in a sample of young black women with invasive breast cancer

2011 ◽  
Author(s):  
Patrice J. Fleming ◽  
Susan T. Vadaparampil ◽  
Devon Bonner ◽  
Alvaro N. Monteiro ◽  
Lisa Kessler ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Decision Making ◽  
Black Women ◽  
Invasive Breast Cancer ◽  
Brca Mutations ◽  
Surgical Decision ◽  
Young Black Women ◽  
Surgical Decision Making

Multi-center prospective analysis of risk-reducing salpingo-oophorectomy to prevent BRCA-associated breast and ovarian cancer

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 1003-1003 ◽  
Author(s):  
N. D. Kauff ◽  
S. M. Domchek ◽  
T. M. Friebel ◽  
J. B. Lee ◽  
R. Roth ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Risk ◽  
Genetic Test ◽  
Ovarian Cancer Risk ◽  
Test Results ◽  
Breast And Ovarian Cancer ◽  
Genetic Test Results ◽  
Risk Reducing

1003 Background: Our groups previously reported on the efficacy of risk-reducing salpingo-oophorectomy (RRSO) for the prevention of BRCA-associated breast and ovarian cancer. (Kauff ND, et al. NEJM 2002; Rebbeck TR, et al. NEJM 2002) Limitations of those reports included relatively short prospective follow-up and lack of power to analyze the protection of RRSO when participants were stratified by BRCA1 vs. BRCA2. To address these limitations, we have pooled our updated datasets to provide robust estimates of the efficacy of RRSO. Methods: 886 women ≥ 30 years of age, with a deleterious mutation in BRCA1 or BRCA2 and ovaries in-situ at time of genetic test results, were enrolled on prospective follow-up studies at one of eleven centers from 11/1/1994 - 12/1/2004. Women chose to participate in either ovarian surveillance or undergo RRSO. Follow-up information was collected by questionnaire and medical record review. Follow-up time was counted from time of RRSO or from time of genetic test results for women who did not undergo RRSO. After excluding cancers diagnosed within the first 6 months of follow-up, the effect of RRSO on time to diagnosis of breast or BRCA-associated gynecologic cancer was analyzed using a Cox proportional-hazards model. Results: 559 (63%) participants underwent RRSO a median of 5 months after genetic test results. 12 occult ovarian or fallopian tube cancers were diagnosed at time of RRSO. During a mean 40 months follow-up, RRSO was associated with a 52% reduction in breast cancer risk and a 91% reduction in ovarian cancer risk (see Table ). When the cohort was stratified by mutation status, RRSO was associated with a reduced risk of BRCA1-associated ovarian cancer and BRCA2-associated breast cancer. Conclusions: The results confirm that RRSO is highly protective against BRCA-associated breast and ovarian cancer. These results also generate the hypothesis that the protection conferred by RRSO against specific cancers may differ between carriers of BRCA1 and BRCA2 mutations. [Table: see text] No significant financial relationships to disclose.

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