Bibliographic Details
| Title: |
Characterization of Incidental Pathogenic Germline Findings Detected via ctDNA among Patients with Non-Small Cell Lung Cancer in a Predominantly Hispanic/Latinx Population. |
| Authors: |
Vallabhaneni, Esha, Kareff, Samuel A., Barnett, Reagan M., Drusbosky, Leylah M., Dalal, Shivani, Raez, Luis E., Santos, Edgardo S., Albrecht, Federico, Cusnir, Mike, Rodriguez, Estelamari |
| Source: |
Cancers; Mar2024, Vol. 16 Issue 6, p1150, 12p |
| Subject Terms: |
DNA analysis, GENOMICS, HISPANIC Americans, DISEASE management, RETROSPECTIVE studies, DISEASE prevalence, DESCRIPTIVE statistics, LUNG tumors, LUNG cancer, CANCER patient psychology, GENETIC mutation, TUMOR classification, SEQUENCE analysis |
| Geographic Terms: |
UNITED States |
| Abstract: |
Simple Summary: Our research demonstrates that genetic factors may play a significant role in the development of non-small cell lung cancer (NSCLC). We focused on the Hispanic/Latinx community in South Florida to determine if certain germline (or inherited) variants in DNA were expressed in patients diagnosed with NSCLC. We found that certain germline variants were present at a higher rate in the Hispanic/Latinx community. Identification of these variants may change the management of their cancer. Pathogenic germline variants (PGVs) may be under-detected as causative etiologies in patients with non-small cell lung cancer (NSCLC). The prevalence of PGVs has been reported between 1 and 15% of patients, depending on the patient population. The rate within Hispanic/Latinx populations remains unknown. We retrospectively analyzed the genomic results (Guardant360, Redwood City, CA, USA) of 878 patients with advanced or metastatic NSCLC at five centers in South Florida, USA, from 2019 to 2022 to analyze the rate of incidental PGVs (iPGVs) identified via circulating cell-free tumor DNA (ctDNA). We then stratified the results by tumor histology, age, gender, race, ethnicity, genetic pathway, and co-mutations. Twenty-one iPGVs were identified (21/878 = 2.4%). Among the 21 iPGVs identified, 14 patients were female (66.7%) and 7 were male (33.3%), with a median age of 67 years and tobacco history of 2.5 pack-years. In total, 52.4% of patients identified as Hispanic/Latinx (n = 11) of any race; 19.0% as Ashkenazi Jewish (n = 4), 9.5% as non-Hispanic/Latinx black (n = 2), and 19.0% as non-Hispanic/Latinx white (n = 4). iPGVs in the homologous recombination repair pathway were solely expressed in this cohort (10 ATM, 8 BRCA2, and 3 BRCA1). In total, 76% (16/21) of patients with iPGVs co-expressed somatic alterations, with 56% (9/16) demonstrating alterations in targetable genes. Overall, our real-world findings offer a point prevalence of iPGVs in patients with NSCLC of diverse populations, such as patients who report Hispanic/Latinx ethnicity. [ABSTRACT FROM AUTHOR] |
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| Database: |
Complementary Index |
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