Talia Golan1, Hedy L Kindler2, Joon Oh Park3, Michele Reni4, Teresa Macarulla5, Pascal Hammel6, Eric Van Cutsem7, Dirk Arnold8, Daniel Hochhauser9, David McGuinness10, Gershon Y Locker11, Teodora Goranova10, Philipp Schatz12, Yu-Zhen Liu10, Michael J Hall13. 1. The Oncology Institute, Sheba Medical Center at Tel-Hashomer, Tel Aviv University, Tel Aviv, Israel. 2. The University of Chicago, Chicago, IL. 3. Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea. 4. IRCCS Ospedale San Raffaele Scientific Institute, Milan, Italy. 5. Vall d'Hebron University Hospital and Vall d'Hebron Institute of Oncology, Barcelona, Spain. 6. Hôpital Beaujon (AP-HP), Clichy, and University Paris VII, Paris, France. 7. University Hospitals Gasthuisberg, Leuven, and KU Leuven, Leuven, Belgium. 8. Asklepios Tumorzentrum Hamburg AK Altona, Hamburg, Germany. 9. University College London Cancer Institute, London, United Kingdom. 10. AstraZeneca, Cambridge, United Kingdom. 11. AstraZeneca, Gaithersburg, MD. 12. AstraZeneca, Gothenburg, Sweden. 13. Fox Chase Cancer Center, Philadelphia, PA.
Abstract
PURPOSE: Germline BRCA1 and/or BRCA2 mutations (gBRCAms) are risk factors for pancreatic cancer. The extent to which demographic and geographic factors affect the uptake of gBRCAm testing in pancreatic cancer (PC) is unknown. METHODS: We conducted a retrospective, descriptive analysis of demographic/geographic data from the first 2,206 patients with metastatic PC (mPC) screened for eligibility to enter the phase III POLO trial of maintenance olaparib. No formal statistical tests were performed. RESULTS: Of 2,167 patients with previously unknown gBRCAm status, 128 (5.9%) had a newly identified gBRCAm; rates were highest in the United States, France, and Israel (9.5%, 7.6%, and 7.4%, respectively). When including patients with a previously known gBRCAm, prevalence rose to 7.2% (or 5.8% after excluding populations enriched in Ashkenazi Jews, who are known to have a high rate of BRCA1 and BRCA2 founder mutations). Patients with a gBRCAm were slightly younger (57.9 v 61.1 years) and more likely to have early-onset mPC than those without. Higher newly identified gBRCAm prevalence was observed among African American (n = 28) versus white (n = 1,808), Asian (n = 218), and other (n = 61) patients (10.7% v 6.1%, 5.0%, and 1.6%, respectively). Of 139 white patients with a gBRCAm, 110 were newly identified during screening; the majority of gBRCAms in African American, Asian, and Hispanic patients (n = 3, n = 11, and n = 5, respectively) were newly identified. CONCLUSION: We identified substantial geographic and some racial variability in gBRCAm prevalence among patients with mPC, an important consideration given the increased use of familial screening and possible future use of targeted therapies in this setting. Although our study included small numbers of nonwhite patients, prior knowledge of their gBRCAm status was limited compared with their white counterparts, which suggests disparities in genetic testing uptake.
PURPOSE: Germline BRCA1 and/or BRCA2 mutations (gBRCAms) are risk factors for pancreatic cancer. The extent to which demographic and geographic factors affect the uptake of gBRCAm testing in pancreatic cancer (PC) is unknown. METHODS: We conducted a retrospective, descriptive analysis of demographic/geographic data from the first 2,206 patients with metastatic PC (mPC) screened for eligibility to enter the phase III POLO trial of maintenance olaparib. No formal statistical tests were performed. RESULTS: Of 2,167 patients with previously unknown gBRCAm status, 128 (5.9%) had a newly identified gBRCAm; rates were highest in the United States, France, and Israel (9.5%, 7.6%, and 7.4%, respectively). When including patients with a previously known gBRCAm, prevalence rose to 7.2% (or 5.8% after excluding populations enriched in Ashkenazi Jews, who are known to have a high rate of BRCA1 and BRCA2 founder mutations). Patients with a gBRCAm were slightly younger (57.9 v 61.1 years) and more likely to have early-onset mPC than those without. Higher newly identified gBRCAm prevalence was observed among African American (n = 28) versus white (n = 1,808), Asian (n = 218), and other (n = 61) patients (10.7% v 6.1%, 5.0%, and 1.6%, respectively). Of 139 white patients with a gBRCAm, 110 were newly identified during screening; the majority of gBRCAms in African American, Asian, and Hispanic patients (n = 3, n = 11, and n = 5, respectively) were newly identified. CONCLUSION: We identified substantial geographic and some racial variability in gBRCAm prevalence among patients with mPC, an important consideration given the increased use of familial screening and possible future use of targeted therapies in this setting. Although our study included small numbers of nonwhite patients, prior knowledge of their gBRCAm status was limited compared with their white counterparts, which suggests disparities in genetic testing uptake.
Authors: Lukas Perkhofer; Talia Golan; Pieter-Jan Cuyle; Tamara Matysiak-Budnik; Jean-Luc Van Laethem; Teresa Macarulla; Estelle Cauchin; Alexander Kleger; Alica K Beutel; Johann Gout; Albrecht Stenzinger; Eric Van Cutsem; Joaquim Bellmunt; Pascal Hammel; Eileen M O'Reilly; Thomas Seufferlein Journal: Cancers (Basel) Date: 2021-08-24 Impact factor: 6.639