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

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

doi:10.3389/fgene.2022.863956

Cited by 3 publications

(1 citation statement)

References 39 publications

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“…In an observational study 107 out of 377 patients were with BRCA mutation, of which 77 patients (72.9%) had BRCA1 mutation where 27.3%of these patients had the founder mutation BRCA1-Del ex9-12. When analyzing progression-free survival, patients treated with Olaparib with BRCA1-Del ex9-12 had a longer progressive free survival when compared to the rest of Mexican patients with BRCA 1 or BRCA 2 mutation treated with Olaparib [36].…”

Section: Brca 1/2 Mutations and Ovarian Cancer In Mexicomentioning

confidence: 99%

Implications of BRCA1 and BRCA2 Mutations in Mexico

Nuñez¹,

Galeana²,

Cruz³

et al. 2023

BRCA1 and BRCA2 Mutations - Diagnostic and Therapeutic Implications

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BRCA 1 or BRCA 2 mutations have played a role in understanding its risk for several different cancer like breast, ovarian, prostate, and pancreatic cancer Knowing that biology is king, and its determination plays a role in prognosis for patients with cancer. Several recommendations have been made focusing on which population should have BRCA mutational status determined. This determination could help seek targeted therapy that could have a beneficial impact on cancer patients. Having this said, efforts have been made to determine if our Mexican population has the same prognosis when BRCA mutation is present when compared to global reports. As well as researching founder mutations that could help understand our Mexican population. This chapter seeks to describe and analysis this current scenario in Mexican population with BRCA mutation.

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Section: Brca 1/2 Mutations and Ovarian Cancer In Mexicomentioning

confidence: 99%

Implications of BRCA1 and BRCA2 Mutations in Mexico

Nuñez¹,

Galeana²,

Cruz³

et al. 2023

BRCA1 and BRCA2 Mutations - Diagnostic and Therapeutic Implications

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show abstract

Olaparib

2022

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Landscape of germline BRCA1/BRCA2 variants in breast and ovarian cancer in Peru

Ferreyra,

Rosas,

Cock-Rada

et al. 2023

Front. Oncol.

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BackgroundThere is an increasing amount of data from Latin America on the characterization of BRCA variants; however, there is limited information from Peru. We conducted a retrospective study to describe germline pathogenic/likely pathogenic(P/LP) variants and variants of uncertain/unknown significance (VUS) in the BRCA1 and BRCA2 genes in Peru, in patients with breast and ovarian cancer, candidates for treatment with poly (adenosine diphosphate–ribose) polymerase (PARP) inhibitors.MethodsThe patients were evaluated during the period 2019-2021. Genomic DNA was isolated from peripheral blood samples and targeted sequencing was performed using the Ampliseq BRCA panel. Genetic variant interpretation was carried out in accordance with the recommendations of the American College of Medical Genetics and ClinVar. During this period, 525 patients (143 with breast cancer and 382 with ovarian cancer) were studied. ResultsWe found that 14.7% (21/143) of breast cancer patients and 20.7% (79/382) of ovarian cancer patients were carriers of P/LP variants in BRCA1/2. The most frequent pathogenic variants detected in BRCA1 were c.2105dupT (BIC: 2224insT, n=12, 18.75%), c.68_69delAG (BIC: 185delAG, n=6, 9.38%), c.140G>T and c.815_824dupAGCCATGTGG (n=5, 7.81%), while in BRCA2 were c.8023A>G (n=6, 16.67%), c.6024dupG (BIC: 6252insG, n=4, 11.11%), and c.9235delG (BIC: 9463delG, n=3, 8.33%). Regarding VUS, we found that 6.99% (10/143) of breast cancer patients and 7.33% (28/382) of ovarian cancer patients were carriers of a VUS in BRCA1/2. For BRCA1, the most frequent VUS was c.93C>G (n=2), and for BRCA2, c.5465A>T (n=4), c.3101T>C (n=3), c.205C>A and c.437T>C (n=2). ConclusionWe found a frequency of 14.7% germline mutations in breast cancer patients and 20.7% in ovarian cancer patients. The most recurrent mutations were BRCA1 c.2105dupT and BRCA2 c.8023A>G. We found that BRCA2 c.8023A>G, c.6024dupG, and c.9235delG were not previously reported in Peruvian patients. BRCA1 c.2344dupA is a novel mutation that has not been previously reported in any database. The frequency of VUS in our cohort was 7.2%.

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

Cited by 3 publications

References 39 publications

Implications of BRCA1 and BRCA2 Mutations in Mexico

Implications of BRCA1 and BRCA2 Mutations in Mexico

Olaparib

Landscape of germline BRCA1/BRCA2 variants in breast and ovarian cancer in Peru

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