22 feb. 2011 BENEFITS OF MULTIGENE PANEL TESTING IN BREAST CANCER
I. Goidescu*’**, D.T. Eniu***, Gabriela Caracostea*,
Gh. Cruciat*, F. Stamatian*’**
* Department of Obstetrics and Gynecology I, University of Medicine and Pharmacy’Iuliu Haţieganu’, Cluj-Napoca, Romania
** IMOGEN Research Center Institute
*** Department of Surgical Oncology, “Ion Kiricuţă” Cancer Center, University of Medicine and Pharmacy ‘Iuliu Haţieganu’, Cluj-Napoca, Romania
Rezumat: Beneficiile utilizării panelurilor multigenice în cancerul mamar
Introducere: Cancerul mamar este cel mai frecvent tip de cancer la femei şi a doua cauză de mortalitate prin
boală neoplazică, fiind cunoscut faptul că 1 din 8 femei va dezvolta cancer mamar. Screeningul genetic a început să fie folosit pe scară tot mai largă odată cu introducerea Next Generation Sequencing (NGS) şi cu reducerea costurilor. Dezvoltarea accelerată a panelurilor multigenice de testare a avut un impact pozitiv asupra stabilirii unei conduite individualizate de tratament atât pentru pacienţi cât şi pentru rudele acestora.
Material şi metodă: Au fost introduse în studiu 80 de paciente diagnosticate cu cancer mamar în perioada
ianuarie 2015 – iulie 2016 şi care îndeplineau criteriile NCCN 2016 de testare genetică. S-a recoltat sânge periferic,
probele au fost trimise şi analizate în Grecia prin 2 paneluri de testare: un panel de testare doar pentru BRCA 1 şi
2 şi un panel extins pentru 25 de gene responsabile de apariţia cancerului mamar.
Rezultate: Din cele 80 de paciente testate 30 au prezentat mutaţii cu penetranţă mare şi medie (25 patogene, 5 VUS (Variant of Uncertain Clinical Significance)), 15 au prezentat mutaţii cu penetranţă scăzută şi 37 au fost negative (23 prin panelul multigenic şi 14 prin panelul BRCA). Din cele 14 paciente BRCA test negative, 6 au fost retestate prin panelul multigenic, fiind detectate 2 mutaţii patogene (CHEK2, PALB2) şi 1 cu mutaţie tip VUS
(STK11).
Concluzii: Testarea numai a BRCA 1 şi 2 la pacientele cu sindrom ereditar de cancer mamar poate duce la
scăparea unor mutaţii care ar putea modifica conduita terapeutică a pacienţilor sau a rudelor acestora. Panelurile
multigenice deşi au un cost uşor crescut faţă de testele standard oferă posibilitatea detectării unei palate mai largi
de mutaţii, şi posibilitatea unui tratament optim.
Abstract:
Introduction : Breast cancer is the most common type of cancer in women and the second cause of death by neoplasia, being known that nowadays 1 in 8 women will develop breast cancer. Genetic screening began to be used on a larger scale since the introduction Next Generation Sequencing (NGS) and the decrease of the costs. Accelerated development of multigene test panels had a positive impact on the medical conduct and individualized treatment for both patients and their relatives.
Material and method: 80 patients diagnosed with breast cancer between January 2015 – July 2016 which met the 2016 NCCN criteria for genetic testing were included in the study. Peripheral blood was collected, and the samples were sent and analyzed in Greece using two test panels: a test panel just for the BRCA 1 and 2, and a multigene panel for 25 genes responsible for breast cancer.
Results: Out of the 80 patients tested, 30 had mutations with high and medium penetrance (25 pathogenic and 5 VUS (Variant of Uncertain Clinical Significance)), 15 had rare mutations with moderate penetrance and 37 were negative (23 using multigene panel test and 14 using BRCA panel). From the 14 patients tested negative using the BRCA test, 6 were retested by multigene panel, and were detected two pathogenic mutations (CHEK2, PALB2) and one VUS mutation (STK11).
Conclusion: Testing only the BRCA 1 and 2 gene mutations in patients with hereditary breast cancer syndrome can lead to a misdiagnose of other mutations, and this can alter the medical conduct of the patients and their relatives. Although multigene test panels costs are slightly increased compared to standard tests, they offer the possibility to detect a broader palate of mutations and the possibility of an accurate treatment.
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