AUTHOR=Gallardo-Rincón Dolores , Montes-Servín Edgar , Alamilla-García Gabriela , Montes-Servín Elizabeth , Bahena-González Antonio , Cetina-Pérez Lucely , Morales Vásquez Flavia , Cano-Blanco Claudia , Coronel-Martínez Jaime , González-Ibarra Ernesto , Espinosa-Romero Raquel , María Alvarez-Gómez Rosa , Pedroza-Torres Abraham , Castro-Eguiluz Denisse 

TITLE=Clinical Benefits of Olaparib in Mexican Ovarian Cancer Patients With Founder Mutation BRCA1-Del ex9-12

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.863956

DOI=10.3389/fgene.2022.863956

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> Ovarian cancer (OC) is gynecologic cancer with the highest mortality rate. It is estimated that 13–17% of ovarian cancers are due to heritable mutations in <italic>BRCA1</italic> and <italic>BRCA2</italic>. The <italic>BRCA1</italic> (<italic>BRCA1</italic>-Del ex9-12) Mexican founder mutation is responsible for 28–35% of the cases with ovarian cancer. The aim was to describe the PFS of OC patients treated with olaparib, emphasizing patients carrying the Mexican founder mutation (<italic>BRCA1</italic>-Del ex9-12).</p><p><bold>Methods:</bold> In this observational study, of 107 patients with <italic>BRCA</italic>m, 35 patients were treated with olaparib from November 2016 to May 2021 at the Ovarian Cancer Program (COE) of Mexico; patient information was extracted from electronic medical records.</p><p><bold>Results:</bold> Of 311 patients, 107 (34.4%) were with <italic>BRCA</italic>m; 71.9% (77/107) were with <italic>BRCA1</italic>, of which 27.3% (21/77) were with <italic>BRCA1</italic>-Del ex9-12, and 28.1% (30/107) were with <italic>BRCA2</italic> mutations. Only 35 patients received olaparib treatment, and the median follow-up was 12.87 months. The PFS of <italic>BRCA1</italic>-Del ex9-12 was NR (non-reach); however, 73% of the patients received the treatment at 36 vs. 11.59 months (95% CI; 10.43–12.75) in patients with other <italic>BRCA</italic>m (<italic>p</italic> = 0.008). Almost 50% of patients required dose reduction due to toxicity; the most frequent adverse events were hematological in 76.5% and gastrointestinal in 4%.</p><p><bold>Conclusion:</bold> Mexican OC <italic>BRCA1</italic>-Del ex9-12 patients treated with olaparib had a significant increase in PFS regardless of the line of treatment compared to other mutations in <italic>BRCA</italic>.</p>