Publications by authors named "J C F Quintanilha"

Article Synopsis
  • The study analyzes the genomic differences between early-stage (1-3) and late-stage (IV) colorectal cancer (CRC), finding that early-stage patients show unique genomic alterations, particularly higher rates of microsatellite instability (MSI) and tumor mutational burden (TMB).
  • Data was collected from over 4,700 patients through a clinico-genomic database, revealing that 546 early-stage patients experienced recurrence within one year, often with different genomic profiles compared to later-stage patients.
  • The findings suggest that comprehensive genomic profiling (CGP) can identify distinct characteristics in early-stage CRC patients and enhance their access to targeted therapies, which are more frequently administered when CGP is conducted prior to first-line treatment.
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Microsatellite instability high (MSI-H) and mismatch repair deficient (dMMR) tumor status have been demonstrated to predict patient response to immunotherapies. We developed and validated a next-generation sequencing (NGS)-based companion diagnostic (CDx) to detect MSI-H solid tumors via a comprehensive genomic profiling (CGP) assay, FoundationOne®CDx (F1CDx). To determine MSI status, F1CDx calculates the fraction of unstable microsatellite loci across >2000 loci using a fraction-based (FB) analysis.

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Background: Controlled trials have consistently demonstrated the efficacy of poly(ADP-ribose) polymerase inhibitors (PARPis) in patients with metastatic castration-resistant prostate cancer (mCRPC) and BRCA1 or BRCA2 alterations (BRCAalt). However, the reported efficacy of PARPi for alterations in other homologous recombination repair (HRR) genes is less consistent. We sought to evaluate the routine practice effectiveness of PARPi between and within these groups.

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Purpose: The purpose of the study was to compare the effectiveness of PARP inhibitor maintenance therapy (mPARPi) in real-world practice by biomarker status [BRCA1/2 alterations (BRCAalt) and a homologous recombination deficiency signature (HRDsig)] in advanced ovarian cancer.

Experimental Design: Patients with ovarian cancer receiving first-line platinum-based chemotherapy and either mPARPi or no maintenance were included. Patient data were obtained by a US-based de-identified ovarian cancer Clinico-Genomic Database, from ∼280 US cancer clinics (01/2015-03/2023).

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