Racial disparities in genetic testing of breast cancer patients.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10591-10591
Author(s):  
Solange Bayard ◽  
Yalei Chen ◽  
Genevieve A. Fasano ◽  
Melissa Davis ◽  
Eleanor M. Walker ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Supreme Court ◽  
Brca Mutation ◽  
Distant Recurrence ◽  
Breast Cancer Patients ◽  
Supreme Court Ruling ◽  
Brca Mutations ◽  
Gene Patenting ◽  
Testing Patterns ◽  
Risk Reducing

10591 Background: TNBC is disproportionately prevalent in African American (AA) populations and in women with BRCA-1 germline mutations. BRCA mutation carriers are candidates for targeted therapy with PARP-inhibitors, and testing results may influence risk-reducing surgery choice. Methods: We evaluated genetic testing patterns and outcomes for TNBC patients treated in the prospectively maintained databases of academic cancer programs in two metropolitan cities in the Northeast (New York City, NYC) and Midwest (Detroit, Det), 1998-2018. Median follow up was 3.73 years. Testing patterns were also analyzed by time, comparing pts diagnosed before versus after the mid-2013 Supreme Court ruling that expanded testing availability by banning gene patenting. Results: Of 810 pts, 600 were from NYC and 200 from Det; 202 were AA and 488 WA. Pts undergoing genetic testing were younger (median age 50 vs 62; p < 0.0001). Compared to WA, AA pts were less likely to undergo genetic testing overall (23.8% vs 42.0%; p < 0.0001) and within site (NYC: 25.6% vs 42.8%, p = 0.008; Det: 22.3% vs 38.6%, p = 0.025). No significant differences were seen in frequency of pathogenic BRCA mutations (AA-14.6%; WA-29.3%) or VUSs (AA-6.3%; WA- 4.9%); p = 0.20. Genetic testing disparities were reduced among pts diagnosed after mid-2013 (AA-31.4% vs WA-44.0%; p = 0.01) compared to pre-mid-2013 (AA-18.3% vs WA-40.7%; p < 0.0001). No differences were seen in local or distant recurrence free survival between patients with BRCA, BRCA variants of uncertain significance, non-BRCA mutations, and patients without genetic mutations (local recurrence p = 0.827; distant recurrence p = 0.574). This outcome equivalence was consistent when stratified by WA vs AA identity. Conclusions: Genetic testing has increased for TNBC pts following the mid-2013 Supreme Court ban on gene patenting, but race-associated disparities persist. Pts undergoing genetic testing are more likely to undergo risk-reducing mastectomy, but testing results do not affect survival outcomes, regardless of race. Addressing genetic testing disparities will become increasingly important as mutation-associated targeted therapies are identified through advances in precision medicine.

scholarly journals Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 370
Author(s):  
Joohyun Hong ◽  
Jiyun Lee ◽  
Minsuk Kwon ◽  
Ji-Yeon Kim ◽  
Jong-Won Kim ◽  
...  
Keyword(s):  
Genetic Testing ◽  
High Risk ◽  
Salt Lake ◽  
Medical Center ◽  
Brca Mutation ◽  
Genetic Diagnosis ◽  
Metastatic Breast ◽  
Breast Cancer Patients ◽  
Brca 1 ◽  
Local Laboratory

Genetic diagnosis for human epidermal growth factor receptor 2-negative metastatic breast cancer patients with the germline BRCA (gBRCA) mutation has been emphasized since the development of polyadenosine diphosphate-ribose polymerase inhibitors. Myriad Genetics, Inc.’s (Salt Lake City, UT, USA) companion diagnostics service is almost exclusively used for genetic testing. The aim of this study was to compare the results of germline BRCA mutation tests returned by a local laboratory and those performed by Myriad. Between April 2014 and February 2018, 31 patients with gBRCA 1/2 mutation test results from both Samsung Medical Center (Seoul, Korea) and Myriad were enrolled. “Discordant: Opposite classification” was observed for only one among 27 (3.7%). This discrepancy was due to the detection of a deleterious large genomic rearrangement of BRCA 1 by Myriad. Samsung Medical Center performed multiple ligation-dependent probe amplifications (MLPA) to detect large genomic rearrangements only in high-risk patients. This one case was not suspected as high risk and MLPA was not performed. The concordant rate was 74.1% for all 27 patients. “Discordant: Laboratory’s uncertain classification” was found in 22.2% of the sample (six patients). All discrepancies were generated during interpretation of BRCA 2 gene sequencing. Further studies and standardization of genetic testing for BRCA 1/2 genes are required.

Patterns of genetic screening for hereditary cancer syndromes: Effect of Supreme Court’s ruling invalidating single gene patent rights.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1580-1580
Author(s):  
Zhen Ni Zhou ◽  
Melissa K Frey ◽  
Dimitrios Nasioudis ◽  
Ann Carlson ◽  
Jessica Fields ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Supreme Court ◽  
Dna Sequences ◽  
Single Gene ◽  
Categorical Variables ◽  
Court Ruling ◽  
Supreme Court Ruling ◽  
Gene Testing ◽  
The Supreme Court ◽  
Multigene Panels

1580 Background: In 6/2013 the Supreme Court ruled that isolated DNA sequences found in nature could not be patented, resulting in rapid uptake of multigene panels. We sought to explore trends in genetic testing since this ruling. Methods: Results of all patients undergoing genetic testing and counseling at a single institution between 7/1/13 and 12/31/16 were reviewed. Associations between categorical variables were evaluated by chi-square tests or Fisher's exact tests as appropriate for category size. Results: 1663 patients underwent genetic testing over the study period. The median age was 49 years (range 18-86). Use of multigene panels versus targeted gene testing increased significantly in the years following the Supreme Court ruling (Table 1, P<0.001). While the percentage of patients found to have pathogenic mutations remained stable over the study period (9%), detection of variants of uncertain significance (VUS) increased significantly (Table 1, P<0.001). In 2013 BRCA1/2 mutations accounted for 91% of identified mutations; however this number decreased over time (2014-83%, 2015-70%, 2016-58%, P=0.01). Use of multigene panels detected 71% of mutations in non- BRCA1/2 genes such as CHEK(19), APC(44), MSH6(1), P53(1), and PTEN(1). Patients with a personal history of breast and/or ovarian cancer were more likely to have targeted testing than patients with other cancer types (590, 66% vs. 9, 33%, P=0.001). Conclusions: The uptake of multigene panels has increased since the 2013 Supreme Court ruling. While this technology allowed for the identification of many cancer-related genes that would be missed on targeted BRCA1/2 testing, it also resulted in a significantly increased detection of VUS, a finding with unknown clinical implications. [Table: see text]

Comparison of risk-reducing surgery in women with BRCA and non-BRCA ovarian cancer susceptibility genes.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 1547-1547
Author(s):  
Zachary Phillip Schwartz ◽  
Mae Zakhour ◽  
Andrew John Li ◽  
Christine S. Walsh ◽  
Bj Rimel ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Susceptibility ◽  
Brca Mutation ◽  
Susceptibility Genes ◽  
Brca Mutations ◽  
Cancer Susceptibility Genes ◽  
Mutation Carriers ◽  
Brca Mutation Carriers ◽  
History Of ◽  
Risk Reducing

1547 Background: Risk reducing gynecologic surgery (RRSO) is standard of care for women with BRCA mutations. The optimal management for women with non-BRCA ovarian cancer susceptibility mutations remains unclear. We sought to characterize the practice patterns for these women at our two institutions. Methods: Women with germline ovarian cancer susceptibility genes who had a RRSO were identified from 1/2000-1/2019 in an IRB approved study. All patients were asymptomatic with no suspicion for malignancy at time of RRSO. Clinico-pathologic characteristics were extracted from the medical records. Continuous variables were analyzed with Kruskal-Wallis and categorical variables analyzed with chi square and t-tests. Results: 152 BRCA1, 95 BRCA2, and 63 Non-BRCA mutation carriers were identified—50 Lynch (22 MLH1, 13 MSH2, 13 MSH6, 2 PMS2) and 13 Other (6 BRIP1, 2 RAD51C, 5 RAD51D). There was no difference between age at testing, age at RRSO, and interval between testing and RRSO between groups. Genetic counseling was higher in Non-BRCA patients. Family history of ovarian cancer was more common in women with BRCA1 and Other germline mutations compared to BRCA2 and Lynch. Family and personal history of breast cancer was high in all groups except Lynch carriers. Prophylactic mastectomy was seen mostly in BRCA mutation carriers. Concomitant hysterectomy was performed in the majority of women (BRCA1 59%, BRCA2 57%, and Other 62%), with the highest frequency in Lynch carriers (86%, p<.01). Occult cancer was only seen in BRCA mutation carriers: BRCA1 (7%), BRCA2 (2%), Lynch (0%), Other (0%). Conclusions: In this cohort, women with Non-BRCA mutations are managed similarly to women with BRCA mutations. We observed no occult cancers in Non-BRCA patients. The optimal role of surgery as a risk reducing strategy in this group requires further study. [Table: see text]

Genetic testing and referral patterns of non-BRCA mutation carriers at increased or uncertain risk of ovarian cancer.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1585-1585
Author(s):  
Sarah S. Lee ◽  
Katherine Baumann ◽  
Bhoomi Bhuptani ◽  
Sarah Turecamo ◽  
Julia Anne Smith ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Brca Mutation ◽  
Genetic Counselor ◽  
Brca Mutations ◽  
Chi Square ◽  
Increased Risk ◽  
Uncertain Significance ◽  
Brca Mutation Carriers ◽  
Icd 10

1585 Background: While the management of BRCA1/2 is clear, management of non-BRCA mutations with increased risk or uncertain risk of ovarian cancer (OC) is not well established. Previously, we reported that referral to a gynecologic oncologist (GO) resulted in a 30-fold increased uptake of risk reducing surgery (RRS). We aimed to identify trends in genetic testing (GT) and referral to a GO of patients (pts) with such mutations. Methods: In this retrospective cohort study at 3 satellite sites within 1 institution from 2014 to 2018, pts were identified by ICD-10 codes Z15.01, Z15.02, Z15.09, Z15.89, C50.919, Q99.8, and C54.1. Pts with mutations with increased risk of OC ( MLH1, MSH2/6, PMS2, EPCAM (LS genes) , RAD51C/D, BRIP1, STK11) and uncertain risk of OC ( PALB2, ATM, BARD1, NBN) were included; BRCA1/2 and variants of uncertain significance were excluded . Outcomes of interest were patterns of GT and referral to a GO. Chi square and logistic regression were used with p < 0.05. Results: Of 20,000 pts with above ICD-10 codes, 240 pts had genes of interest. Mutations in increased risk of OC included: LS genes, 131; BRIP1, 14; RAD51D, 8; RAD51C, 5; STK11, 1. Mutations associated with uncertain risk of OC were: ATM, 43; PALB2, 23; NBN, 10; BARD1, 5. Pts with known mutations prior establishing care at our institution (N = 69) were less likely to be referred to a GO (22% vs 78%, p = 0.015). Pts with LS genes were more likely to be referred to a GO (52% vs. 25%, p < 0.001), to be tested by a GC (52% vs 25%, p < 0.001), and to be tested for family history (FH) of known mutation (69% vs 30%, p < 0.001). Provider performing GT included: genetic counselor (GC), 66 (28%); medical oncologist, 44 (18%); general obstetrician-gynecologist, 44 (18%); breast surgeon, 6 (3%), and primary care provider, 5 (2%). Of 66 pts tested by a GC, 46 (70%) were referred to GO, vs 48/105 (45%) pts who underwent GT by non-GC (p = 0.001). Reasons for GT among pts were: FH of cancer, 113 (47%); personal history of cancer, 56 (23%); known FH of a mutation, 49 (20%); and unknown indication, 22 (9%). When controlling for age, parity, race, insurance, GT provider, and reasons for GT, mutations with increased risk of OC were associated with referral to a GO (OR 3.55, 95% CI 1.88-6.72), along with pts who were tested by a GC (OR 2.65, 95% CI 1.27-5.51). Conclusions: Only ~30% of pts underwent GT by a GC, which was associated with increased referral to a GO. LS genes are better known and were associated with higher uptake of GO referral. Education of OC risks of these newer mutations among providers performing GT may increase referral to a GO and uptake of RRS.

Adherence to referral guidelines

2019 ◽  
Vol 24 (1) ◽  
pp. 6-18 ◽  
Author(s):  
Michel Lu ◽  
Allan D. Spigelman
Keyword(s):  
Genetic Testing ◽  
Brca Mutation ◽  
Evidence Based ◽  
Brca Mutations ◽  
Content Type ◽  
Gene Testing ◽  
South Wales ◽  
Brca Mutation Carriers ◽  
Evidence Based Guidelines ◽  
Referral Practice

Purpose A significant subset of patients (12 per cent) with triple negative breast cancer (TNBC) is BRCA mutation carriers, which can be identified through genetic testing. The purpose of this paper is to evaluate the referral practice for TNBC patients with reference to New South Wales (NSW) referral guidelines at the time of diagnosis and to assess the effectiveness of such guidelines in identifying BRCA mutations. Robust health governance requires monitoring of adherence to evidence-based guidelines such as those that underpin referral for cancer genetic testing in this clinical scenario. Design/methodology/approach The authors conducted a retrospective clinical audit of identified TNBC patients at St Vincent’s Hospital (SVH) between 2006 and 2016 in NSW, comparing referral practice to guidelines extant at the time of diagnosis. Family history was considered for age guideline-inappropriate referrals to SVH while the results of BRCA gene testing were assessed for all referred. Findings Overall, of the 17 patients eligible for referral based on the age criterion, 10 (58.5 per cent) were referred appropriately; however, there were substantial improvements from 2012 with 100 per cent referred. Of note, 12 (33.4 per cent) of 36 patients referred to SVH were referred outside of guidelines, pointing to other reasons for referral, such as patient age (OR 0.945; 95% CI 0.914–0.978) and calendar year (OR: 1.332; 95% CI: 1.127–1.575) at TNBC diagnosis. Referral guidelines captured 66.67 per cent of identified deleterious BRCA mutations in those tested. Originality/value Substantial under-referral of guideline-eligible patients was identified, with evidence-based guidelines effective in identifying high-risk individuals for BRCA mutation testing. There was, however, a substantial proportion of guideline-inappropriate referrals.

Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma

2015 ◽  
Vol 33 (28) ◽  
pp. 3124-3129 ◽  
Author(s):  
Spring Holter ◽  
Ayelet Borgida ◽  
Anna Dodd ◽  
Robert Grant ◽  
Kara Semotiuk ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Pancreatic Ductal Adenocarcinoma ◽  
Brca Mutation ◽  
Ductal Adenocarcinoma ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
Cancer Family ◽  
Cancer Family History ◽  
Testing Criteria

Purpose The main purpose of this study was to determine the prevalence of pathogenic BRCA1 and BRCA2 mutations in a consecutively ascertained clinic-based cohort of patients with pancreatic ductal adenocarcinoma and describe the clinical and family history characteristics. Patients and Methods Unselected, consecutive, incident patients with pancreatic ductal adenocarcinoma were recruited at a single cancer center over a 2-year period. Participants provided blood for DNA analysis and cancer family history, and cancer treatment records were reviewed. DNA from all patients was analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification for germline variants in BRCA1 and BRCA2. Results Three hundred six patients were eligible for analysis. Pathogenic germline BRCA mutations were identified in 14 patients (4.6%; 95% CI, 2.2% to 6.9%), including 11 patients with a BRCA2 mutation and three patients with a BRCA1 mutation. Having a cancer family history that met genetic testing criteria of the National Comprehensive Cancer Network or the Ontario Ministry of Health and Long-Term Care or self-reporting as Ashkenazi Jewish was significantly associated with BRCA mutation carrier status (P = .02, P < .001, and P = .05, respectively). However, the majority of the BRCA mutation–positive patients did not actually meet these genetic testing criteria. Conclusion Pathogenic BRCA mutations were identified in 4.6% of a large cohort of clinic-based patients. Considering the implications for family members of BRCA carriers, and possibly tailored chemotherapeutic treatment of patients, our finding has implications for broader BRCA genetic testing for patients with pancreatic ductal adenocarcinoma.

scholarly journals QATAR’S EXPERIENCE WITH HEREDITARY BREAST AND OVARIAN CANCER AND HIGH RISK CLINIC: A RETROSPECTIVE STUDY 2013-2016

2017 ◽  
Vol 5 (10) ◽  
pp. 184-196 ◽  
Author(s):  
Salha Mohammed Bujassoum ◽  
HekmetAbubaker Bugrein ◽  
Reem Jawad Al-Sulaiman ◽  
Hafedh Ghazouani
Keyword(s):  
Breast Cancer ◽  
Retrospective Study ◽  
Genetic Testing ◽  
High Risk ◽  
Cancer Patients ◽  
Breast Cancer Patients ◽  
Brca Mutations ◽  
High Risk Patients ◽  
Risk Patients ◽  
High Risk Clinic

Introduction: Approximately 5%-10% of breast cancer is hereditary and BRCA1 and BRCA2 genes are responsible for most of the cases. In the State of Qatar, the cancer genetics program was established at National Center of Cancer Care and Research on 2013 which is considered the first of its kind in the region dedicated exclusively to providing genetic counseling, risk assessment and management of high risk patients and their families. In this study, we aim to describe our experience with the hereditary cancer and high risk clinic from the period of March 2013 until December 2016.Methods: In this retrospective study, a total of 697 patients were evaluated at the high risk clinic between March 2013 to December 2016. High risk patients were either placed under surveillance or offered genetic testing for the BRCA genes. Results: A total of 697 patients were evaluated at the high risk clinic in which 347 patients were considered eligible for high risk screening. 167 patients pursued genetic testing and 64 patients (38%) had BRCA mutations with BRCA1 being the most common, while 72 patients (43%) were BRCA negative. A total of 31 patients (19%) had variants of unknown significance in the BRCA genes. Most of the BRCA positive patients 63% were affected with either breast and/or ovarian cancers and were within younger age group, while 38% were unaffected. 55% of those BRCA positive affected patients had triple negative breast cancer. The prevalence of BRCA mutations among Qatari breast cancer patients reaches up to 10% while it reaches approximately 3.5% among non-Qatari breast cancer patients. Conclusion: Our program is an example of a well-established and multidisciplinary service targeted toward prevention and personalized medicine in high risk patients that goes in line with Qatar’s 2022 vision of achieving excellence in cancer care. From our unique experience, we show that BRCA mutations are prevalent among Qatari breast cancer patients reaching approximately 10% which can partially explain the young onset diagnosis of breast cancer in Qatar. With the higher awareness about our service and the recent establishment of BRCA testing at HMC, it is believed that the prevalence of BRCA is going to increase. In addition, with the introduction of multigene panel at our clinic, we believe that it will provide us with new perspective on all hereditary cancers. Our data registry on hereditary cancer syndromes will open windows for future research on cancer prevention and targeted therapies.

Outcomes of HER2-positive nonmetastatic breast cancer patients with or without deleterious BRCA mutations after trastuzumab treatment.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e12550-e12550
Author(s):  
Aimaz Afrough ◽  
Heather Lin ◽  
Angelica M. Gutierrez-Barrera ◽  
Jennifer Keating Litton ◽  
Vicente Valero ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Brca Mutation ◽  
Disease Free Survival ◽  
Metastatic Breast ◽  
Her2 Overexpression ◽  
Breast Cancer Patients ◽  
Her2 Positive ◽  
Brca Mutations ◽  
Her2 Breast Cancer

e12550 Background: Human epidermal growth factor receptor (HER2) overexpression or amplification occurs in 20–25% of all breast cancers and is associated with an aggressive form of the disease with reduced disease-free survival (DFS) and overall survival (OS). However, the outcome of patients with HER2+ tumor and BRCA mutation is poorly described. The purpose of this analysis was to analyze the clinical and pathological features and outcomes of patients with HER2+ breast cancer regards to their BRCA status. Methods: Patients who were referred for genetic counseling between 2004-2012 and who had a HER2+ breast cancer treated with trastuzumab were included in our analysis. Patients were considered Her2+ if immunohistochemistry was 3+ or had a ratio of ≥2 by FISH. Patients with metastatic breast cancer at diagnosis were excluded. Clinical and pathological and outcome data was extracted from a prospectively maintained research data base after IRB approval was obtained. Results: Ninety-four patients were identified. The median age at diagnosis was 39 years (range 21 – 58). The majority of the patients were White (76%). Tumors were invasive ductal carcinoma in 89% and had nuclear grading of 3 in 76% of patients. Hormone receptors were positive in 66% and BRCA 1 or 2 mutations were positive in 16% (N=15). The majority of the patients were treated with a combination of Anthracyclines plus Taxanes (76%). All patients received trastuzumab in the neoadjuvant or adjuvant setting. After a median follow-up of 4.4 years, OS and DFS in all patients were 97% and 88%, respectively. Three HER2-positive breast cancer patients had died (3.2 %). Recurrence had occurred in 11 patients; all of these patients were BRCA negative. OS and DFS of patients with BRCA mutations were then compared with OS and DFS of patients without BRCA mutation (both 100% vs. 96% and 81.9%, respectively). There was no statistically significant survival difference in BRCA mutation carriers compared with non-carriers (p=0.362). Conclusions: The presence of a BRCA mutation does not seem to offer prognostic information in this population. Further investigation with larger cohort are needed for confirmation.

TBCRC 048: A phase II study of olaparib monotherapy in metastatic breast cancer patients with germline or somatic mutations in DNA damage response (DDR) pathway genes (Olaparib Expanded).

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1002-1002 ◽  
Author(s):  
Nadine M. Tung ◽  
Mark E. Robson ◽  
Steffen Ventz ◽  
Cesar Augusto Santa-Maria ◽  
Paul Kelly Marcom ◽  
...  
Keyword(s):  
Somatic Mutations ◽  
Brca Mutation ◽  
Parp Inhibitor ◽  
Single Agent ◽  
Objective Response ◽  
Metastatic Breast ◽  
Progression Free Survival ◽  
Breast Cancer Patients ◽  
Brca Mutations ◽  
Secondary Endpoints

1002 Background: Olaparib, a PARP inhibitor, is approved for HER2-negative MBC in g BRCA1/2 mutation carriers. Olaparib Expanded, an investigator-initiated study, assessed the response to olaparib in MBC patients with sBRCA1/2 mutations or g/s mutations in DDR-pathway genes other than BRCA1/2. Methods: Eligibility included: MBC with measurable disease; progression on < 2 metastatic chemotherapy regimens. Prior PARP inhibitor or progression on platinum was not allowed. Cohort 1 included patients with germline mutations in non- BRCA1/2 DDR-pathway genes. In Cohort 2 were those with somatic mutations in these genes or BRCA1/2; germline testing was required only to exclude a gBRCA mutation if a s BRCA mutation was present. Patients received olaparib 300 mg bid until progression or unacceptable toxicity. For each cohort, a single-arm Simon two-stage design was used with 13 then 14 patients in the 1st and 2nd stages, respectively. The null hypothesis within each cohort [≤ 5% objective response rate (ORR)] would be rejected if > 4 responses were seen at the end of stage 2. Secondary endpoints include clinical benefit rate, progression-free survival, and duration of response. Results: 54 patients enrolled from March 2018 to Jan 2020; 1 ineligible s BRCA2 was excluded. Median age was 59 yrs (range: 30-87). 40 patients had ER+ HER2-, 3 HER2+, and 10 TNBC. 87% had a mutation in PALB2, s BRCA1/2, ATM or CHEK2. ORR was 29.6% (8/27, 90%-CI: 15.6%-47.1%) in Cohort 1 and 38.5% (10/26, 90%-CI: 22.5%-56.4%) in Cohort 2. Responses were gene specific (Table): g PALB2 and s BRCA mutations predicted response; no responses were seen with only a CHEK2 or ATM mutation. To date, responses as long as 16.4 months have been observed. Responses were seen in all subtypes: 5/10 TNBC, 1/3 HER2+, 12/40 ER+ HER2-. 11 responses occurred after prior CDK4/6 inhibitor. In June 2020, final data for confirmed ORR and secondary endpoints will be reported. Conclusion: In this proof-of-principle study, single-agent olaparib successfully met its primary endpoint in both cohorts. Activity was seen largely in patients with MBC and s BRCA1/2 or g PALB2 mutations but not with ATM or CHEK2 mutations. Clinical trial information: NCT03344965 . [Table: see text]

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