Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants
Objective: Tumors harboring a POLE pathogenic variant, associated with high tumor mutational burden, are good candidates for immunotherapy. However, POLE pathogenic variants are not currently screened in routine clinical practice. Can these tumors be identified by means of an already available test?...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-08-01
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| Series: | Gynecologic Oncology Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352578921001594 |
| _version_ | 1818910074595180544 |
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| author | M.-C. Villy J. Masliah-Planchon S. Melaabi O. Trabelsi Grati E. Girard G. Bataillon A. Vincent-Salomon J. Le Gall L. Golmard D. Stoppa-Lyonnet I. Bieche C. Colas |
| author_facet | M.-C. Villy J. Masliah-Planchon S. Melaabi O. Trabelsi Grati E. Girard G. Bataillon A. Vincent-Salomon J. Le Gall L. Golmard D. Stoppa-Lyonnet I. Bieche C. Colas |
| author_sort | M.-C. Villy |
| collection | DOAJ |
| description | Objective: Tumors harboring a POLE pathogenic variant, associated with high tumor mutational burden, are good candidates for immunotherapy. However, POLE pathogenic variants are not currently screened in routine clinical practice. Can these tumors be identified by means of an already available test? Methods: We describe seven tumors harboring a POLE pathogenic variant, among eight patients with tumors harboring multiple BRCA1/2 variants (from 4 to 20). All patients were managed at Institut Curie, Paris. Five patients were selected because of unexpected tumor BRCA testing results with multiple variants and another three patients were selected because of a POLE pathogenic variant detected by large tumor testing. We looked for other tumor variants by Next-Generation Sequencing in tumors harboring multiple BRCA1/2 variants, and for multiple BRCA1/2 variants in tumors harboring a POLE pathogenic variant. Results: Four of the five tumors selected because of multiple BRCA1/2 variants exhibited a POLE pathogenic variant, and all three tumors selected for POLE pathogenic variants exhibited multiple BRCA1/2 variants. Conclusions: Tumor BRCA testing could be a way to detect tumors harboring a highly mutagenic POLE pathogenic variant. |
| first_indexed | 2024-12-19T22:37:01Z |
| format | Article |
| id | doaj.art-b7167e1ceefb447b850e2daf637b6876 |
| institution | Directory Open Access Journal |
| issn | 2352-5789 |
| language | English |
| last_indexed | 2024-12-19T22:37:01Z |
| publishDate | 2021-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Gynecologic Oncology Reports |
| spelling | doaj.art-b7167e1ceefb447b850e2daf637b68762022-12-21T20:03:10ZengElsevierGynecologic Oncology Reports2352-57892021-08-0137100855Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variantsM.-C. Villy0J. Masliah-Planchon1S. Melaabi2O. Trabelsi Grati3E. Girard4G. Bataillon5A. Vincent-Salomon6J. Le Gall7L. Golmard8D. Stoppa-Lyonnet9I. Bieche10C. Colas11Department of Genetics, Institut Curie, Paris, France; Corresponding author at: Department of Genetics, Institut Curie, 25 rue d’Ulm, Paris 75005, France.Department of Genetics, Institut Curie, Paris, France; Paris Sciences & Lettres Research University, Paris, FranceDepartment of Genetics, Institut Curie, Paris, France; Paris Sciences & Lettres Research University, Paris, FranceDepartment of Genetics, Institut Curie, Paris, France; Paris Sciences & Lettres Research University, Paris, FranceDepartment of Genetics, Institut Curie, Paris, France; Paris Sciences & Lettres Research University, Paris, FranceParis Sciences & Lettres Research University, Paris, France; Department of Pathology, Institut Curie, Paris, FranceParis Sciences & Lettres Research University, Paris, France; Department of Pathology, Institut Curie, Paris, FranceDepartment of Genetics, Institut Curie, Paris, France; Paris Sciences & Lettres Research University, Paris, FranceDepartment of Genetics, Institut Curie, Paris, France; Paris Sciences & Lettres Research University, Paris, FranceDepartment of Genetics, Institut Curie, Paris, France; Université de Paris, Paris, France; Inserm U830, Institut Curie, Paris, FranceDepartment of Genetics, Institut Curie, Paris, France; Université de Paris, Paris, FranceDepartment of Genetics, Institut Curie, Paris, France; Paris Sciences & Lettres Research University, Paris, France; Inserm U830, Institut Curie, Paris, FranceObjective: Tumors harboring a POLE pathogenic variant, associated with high tumor mutational burden, are good candidates for immunotherapy. However, POLE pathogenic variants are not currently screened in routine clinical practice. Can these tumors be identified by means of an already available test? Methods: We describe seven tumors harboring a POLE pathogenic variant, among eight patients with tumors harboring multiple BRCA1/2 variants (from 4 to 20). All patients were managed at Institut Curie, Paris. Five patients were selected because of unexpected tumor BRCA testing results with multiple variants and another three patients were selected because of a POLE pathogenic variant detected by large tumor testing. We looked for other tumor variants by Next-Generation Sequencing in tumors harboring multiple BRCA1/2 variants, and for multiple BRCA1/2 variants in tumors harboring a POLE pathogenic variant. Results: Four of the five tumors selected because of multiple BRCA1/2 variants exhibited a POLE pathogenic variant, and all three tumors selected for POLE pathogenic variants exhibited multiple BRCA1/2 variants. Conclusions: Tumor BRCA testing could be a way to detect tumors harboring a highly mutagenic POLE pathogenic variant.http://www.sciencedirect.com/science/article/pii/S2352578921001594OncogeneticsPOLETumor BRCA testing |
| spellingShingle | M.-C. Villy J. Masliah-Planchon S. Melaabi O. Trabelsi Grati E. Girard G. Bataillon A. Vincent-Salomon J. Le Gall L. Golmard D. Stoppa-Lyonnet I. Bieche C. Colas Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants Gynecologic Oncology Reports Oncogenetics POLE Tumor BRCA testing |
| title | Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants |
| title_full | Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants |
| title_fullStr | Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants |
| title_full_unstemmed | Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants |
| title_short | Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants |
| title_sort | tumor brca testing can reveal a high tumor mutational burden related to pole pathogenic variants |
| topic | Oncogenetics POLE Tumor BRCA testing |
| url | http://www.sciencedirect.com/science/article/pii/S2352578921001594 |
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