scholarly journals BRCA testing uptake and participation in ovarian cancer prevention in women at risk for an inherited ovarian cancer susceptibility

2000 ◽  
Vol 2 (1) ◽  
pp. 86-86 ◽  
Author(s):  
M T Scheuner ◽  
L S C Chong ◽  
H E C Hixott ◽  
J I Rotter
2013 ◽  
Vol 31 (31_suppl) ◽  
pp. 236-236
Author(s):  
Hilary B. Kershberg ◽  
Monica Alvarado ◽  
Jaime L. Natoli ◽  
Emily Parkhurst ◽  
Hui Zhou ◽  
...  

236 Background: Diagnosis of breast cancer at a young age is an indication for genetic counseling and possible BRCA testing. However, not all women with this early diagnosis are referred for genetic counseling, especially if they do not have a family history of breast or ovarian cancer. Methods: The genetics department in Kaiser Permanente Southern California (KPSC) provides clinical genetic services in an integrated health care system serving over 3.6 million members. Using data from the KPSC tumor registry, the KPSC EMR system, and a departmental cancer test results database, we identified 454 women diagnosed with early breast cancer (<46 years) between September 2005 and September 2010 who had not received genetic counseling. We contacted these women with a letter and/or phone call offering a genetics consultation, and we offered BRCA testing to all those who came for counseling. Results: 142 women (31%) came in for genetic counseling, and 312 women (69%) declined, did not keep their appointment, or never responded. Hispanics were more likely to schedule and keep an appointment than Caucasians (OR=1.35, 95% CI, 0.79-2.31), although this was not statistically significant. Of those who came in for counseling, African Americans were significantly less likely to accept genetic testing than Caucasians (OR=0.31, 95% CI, 0.10-0.98).Of the 142 patients who were counseled, 122 (86%) accepted testing. We identified 6 patients (5%) who were positive for a deleterious BRCA mutation and 6 patients (5%) who had a variant of uncertain significance. Of the 6 women with deleterious mutations, only 1 had a first-degree relative with breast or ovarian cancer, and 4 had mutation probabilities <10%. Conclusions: This project demonstrates how an integrated care approach and EMR system provide an opportunity to identify and contact women who are at increased risk for inherited cancer susceptibility.


2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1589-1589
Author(s):  
Jennifer Jorgensen ◽  
Kimberley Chiu ◽  
Kristin Gotimer ◽  
Eva Chalas ◽  
Dennis Yi-Shin Kuo ◽  
...  

1589 Background: BRCA testing has become an integral component of ovarian cancer management; however, low testing uptake remains an obstacle. This study evaluated the impact of an oncologist-led counseling and testing model on BRCA testing uptake. Methods: The ENGAGE study (NCT02406235) is a prospective study of an oncologist-led BRCA counseling and testing model in patients with epithelial ovarian, primary peritoneal and fallopian tube cancer (EOC). The United States lead accruing gynecologic oncology sites were Montefiore, an urban academic medical center; and Winthrop, a suburban teaching hospital. Oncologists were trained in BRCA counseling prior to site activation, and directly submitted patients’ samples for BRCA testing. Prior to the ENGAGE study, EOC patients were referred to genetics professionals for counseling and testing. We determined the number of BRCA tests performed, and simple descriptive statistics were used to summarize the data. Results: A combined total of 141 EOC patients underwent BRCA testing during the 20 consecutive months analyzed. In the 10 months pre-ENGAGE, 8 Montefiore patients had BRCA testing, all submitted through the genetics division. Nineteen Winthrop patients had BRCA testing, 16 from their oncologist’s office and 3 from an external genetics office. During the 10-month ENGAGE trial, 64 Montefiore patients and 50 Winthrop patients had BRCA testing. This represents a four-fold increase in BRCA testing uptake, with 114 patients tested during ENGAGE versus 27 patients tested pre-ENGAGE. Of these 114, 99 had BRCA counseling and testing through their oncologist’s office. Conclusions: Implementation of an oncologist-led genetic counseling and testing model was associated with increased BRCA testing among ovarian cancer patients in both the urban and suburban hospitals. Increased BRCA testing could be related to increased patient convenience and standardized training of the clinical team. These findings may guide other institutions as they implement streamlined genetic counseling and testing protocols.


2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 5577-5577
Author(s):  
Monica Levine ◽  
Rachel Pearlman ◽  
Heather Hampel ◽  
Casey Cosgrove ◽  
David E. Cohn ◽  
...  

5577 Background: The use of upfront germline genetic testing for cancer patients to identify hereditary syndromes and to aid in treatment decision making has increased dramatically. Recent evidence suggests that such testing should be considered for all solid tumors. In EC, mismatch repair deficiency (MMRd) has emerged as an important molecular marker for treatment with checkpoint inhibitors. MMRd is the hallmark of Lynch syndrome (LS), the most common hereditary cause of EC. Therefore, identifying LS not only affords opportunities for cancer prevention but also for making treatment decisions for women who already have EC. Although tumor-based screening is highly effective, some LS diagnoses will be missed. Upfront multi-gene panel testing (MGPT) for EC has been evaluated as an alternative approach to identifying LS with the potential to simultaneously find actionable germline variants in other cancer susceptibility genes (CSGs). Our objective was to determine the frequency and types of actionable germline variants in a large, unselected group of women with EC. Methods: Prospective germline MGPT for 47 CSGs was performed for 961 unselected EC cases. Patients diagnosed from 2017-2020 were enrolled at nine different institutions. Clinicopathologic data were abstracted from patients’ records. Results: 101 likely pathogenic (LP) or pathogenic variants (PV) were identified in 98 women (10.2%). LP/PVs in LS genes were most common: 29 LS cases were identified (3.02%, 95% CI 2.1 - 4.3%). MGPT found 9 cases (one-third of LS cases) that were not identified by tumor screening: 6 were from institutions that do not perform tumor screening and 3 had normal immunohistochemistry. There were 72 LP/PVs found in 17 different CSGs. 21 patients (2.1%) had LP/PVs in high penetrance CSGs other than the LS genes, 19 of which were in genes associated with breast and/or ovarian cancer (4 in BRCA1, 6 in BRCA2, 6 in BRIP1, 2 in PALB2, 1 in RAD51C). BRCA1/2 PVs (1.04% of the study population, 95% CI 0.6 - 1.9%) were significantly more frequent in women with type II cancers than the rest of the cohort (P =.005, HR 2.00, 95% CI 1.16 - 4.75). 21 additional LP/PVs were found in moderate risk CSGs ( ATM, CHEK2, NBN, NF1). Conclusions: Upfront MGPT in an unselected EC population improved LS diagnosis and identified an additional 2% of patients with LP/PVs in highly penetrant CSGs. The enrichment of germline BRCA1/2 PVs in type II cancers is consistent with prior reports that non-endometrioid tumors are frequently deficient in homologous recombination. Germline BRCA mutation is a known predictive biomarker in ovarian cancer and an attractive therapeutic target in EC. Knowing germline status at the time of diagnosis facilitates further delineation of germline/phenotype associations, and it defines a genetic syndrome allowing for cancer prevention. Upfront MGPT in EC provides clinically impactful information and should be adopted into routine clinical care. Clinical trial information: NCT03460483.


2018 ◽  
Vol 79 (3) ◽  
pp. 467-481 ◽  
Author(s):  
Melissa A. Buckley ◽  
Nicholas T. Woods ◽  
Jonathan P. Tyrer ◽  
Gustavo Mendoza-Fandiño ◽  
Kate Lawrenson ◽  
...  

2021 ◽  
Vol 20 ◽  
pp. 153303382110279
Author(s):  
Brooke E. Sanders ◽  
Lisa Ku ◽  
Paul Walker ◽  
Benjamin G. Bitler

The clinical use of molecular tumor profiling (MTP) is expanding and there is an increasing use of MTP data to manage patient care. At the University of Colorado, 18 patients were diagnosed with primary serous ovarian cancer between 9/2015 and 6/2019 and consented for banking and analysis of tumor, ascites and plasma. All 18 patients had tumor and plasma samples that were sent for MTP, and 13 of 18 patients additionally had ascites collected and sent for MTP. 50-gene panel testing and BRCA testing were performed on primary tumor. BRCA genetic variants were more likely to be identified in plasma as compared to ascites or tumor, though not statistically significant ( P = 0.17). Co-occurring genetic variants between plasma and ascites were less common in comparison to co-occurring variants between tumor and plasma or tumor and ascites, though not statistically significant ( P = 0.68). Variants in KDR (VEGFR2) and TP53 were most likely to be conserved across all 3 biocompartments. Mutant allele frequencies (MAF) of individual genetic variants varied across biocompartments, though tended to be highest in the tumor, followed by ascites.


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