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MOLECULAR DIAGNOSTICS IN BREAST
CANCER MANAGEMENT
Oksana Sulaieva
CONVENTIONAL DECISION-MAKING APPROACH
IN BREAST CANCER
Clinical
diagnosis
Prognosis
Tailored
treatment
Yuan J et al. Integrated Analysis of Genetic Ancestry and Genomic Alterations across Cancers. Cancer Cell. 2018 Oct 8;34(4):549-560.e9. doi: 10.1016/j.ccell.2018.08.019.
WHY DO WE NEED MOLECULAR TESTING in BREAST CANCER?
Reason # 1
Major cancer susceptibility
loci identified in breast
cancer.
WHY DO WE NEED MOLECULAR TESTING in BREAST CANCER?
Santarpia L. et al. Deciphering and Targeting Oncogenic Mutations and Pathways in Breast Cancer. Oncologist. 2016 Sep;21(9):1063-78. doi: 10.1634/theoncologist.2015-0369.
What genes should be tested?
CLINICAL IMPLICATIONS
• risk assessment
• prognosis
• targeted treatment
NGS TESTING SHOULD BE PREFERRED FOR assessing BRCA1/2 and other HRR-genes
Reason # 2
MOLECULAR TOOLS FOR BREAST CANCER
(LUMINAL SUBTYPES, EARLY STAGES)
NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). Breast Cancer. Version 7.2021 – August 23, 2021
10
Oncotype DX Breast
Reason # 3
WHY DO WE NEED MOLECULAR TESTING in BREAST CANCER?
List of recurrent drivers in breast cancer
Condorelli R et al. Genomic alterations in breast cancer: level of evidence for actionability according to ESMO Scale for Clinical Actionability of molecular Targets (ESCAT).
Ann Oncol. 2019 Mar 1;30(3):365-373. doi: 10.1093/annonc/mdz036.
LIST OF GENOMIC ALTERATIONS OF LOE I/II
Condorelli R et al. Genomic alterations in breast cancer: level of evidence for actionability according to ESMO Scale for Clinical Actionability of molecular Targets (ESCAT).
Ann Oncol. 2019 Mar 1;30(3):365-373. doi: 10.1093/annonc/mdz036.
Tailoring
treatment for the
best patients’
benefits
NGS-panels (Illumina platform)
Complex genomic profiling – Foundation One Dx
All the types of genetic alterations
Complex genomic signatures
SHIFTING HEALTH CARE PARADIGM TOWARDS PRECISE MEDICINE
Reason # 4
Tools for molecular residual disease detection and
optimizing patients' management
MOLECULAR TESTING APPLICATIONS:
• Hereditary cancer diagnostics and family risks assessment
• Identifying patients with high risk of recurrence and making a
decision on the best treatment options (Luminal Types)
• Evaluating predictive markers for tailoring treatment for the best
patients benefits
• Non-invasive cancer monitoring and molecular residual disease
detection
• Comprehensive genomic profiling supports clinicians in decision
making and improves patients` outcomes and care
NGS-panels for solid
tumors
NGS-panel for BRCA1/2 testing
30-genes panel for hereditary cancer
CONCLUSIONS
THANK YOU FOR ATTENTION!

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Сулаєва О.М. - Молекулярна діагностика в менеджменті пацієнтів з рмз

  • 1. MOLECULAR DIAGNOSTICS IN BREAST CANCER MANAGEMENT Oksana Sulaieva
  • 2. CONVENTIONAL DECISION-MAKING APPROACH IN BREAST CANCER Clinical diagnosis Prognosis Tailored treatment
  • 3. Yuan J et al. Integrated Analysis of Genetic Ancestry and Genomic Alterations across Cancers. Cancer Cell. 2018 Oct 8;34(4):549-560.e9. doi: 10.1016/j.ccell.2018.08.019. WHY DO WE NEED MOLECULAR TESTING in BREAST CANCER?
  • 5. Major cancer susceptibility loci identified in breast cancer. WHY DO WE NEED MOLECULAR TESTING in BREAST CANCER? Santarpia L. et al. Deciphering and Targeting Oncogenic Mutations and Pathways in Breast Cancer. Oncologist. 2016 Sep;21(9):1063-78. doi: 10.1634/theoncologist.2015-0369.
  • 6. What genes should be tested? CLINICAL IMPLICATIONS • risk assessment • prognosis • targeted treatment NGS TESTING SHOULD BE PREFERRED FOR assessing BRCA1/2 and other HRR-genes
  • 8. MOLECULAR TOOLS FOR BREAST CANCER (LUMINAL SUBTYPES, EARLY STAGES) NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines). Breast Cancer. Version 7.2021 – August 23, 2021
  • 10.
  • 12. WHY DO WE NEED MOLECULAR TESTING in BREAST CANCER? List of recurrent drivers in breast cancer Condorelli R et al. Genomic alterations in breast cancer: level of evidence for actionability according to ESMO Scale for Clinical Actionability of molecular Targets (ESCAT). Ann Oncol. 2019 Mar 1;30(3):365-373. doi: 10.1093/annonc/mdz036.
  • 13. LIST OF GENOMIC ALTERATIONS OF LOE I/II Condorelli R et al. Genomic alterations in breast cancer: level of evidence for actionability according to ESMO Scale for Clinical Actionability of molecular Targets (ESCAT). Ann Oncol. 2019 Mar 1;30(3):365-373. doi: 10.1093/annonc/mdz036.
  • 14.
  • 15. Tailoring treatment for the best patients’ benefits NGS-panels (Illumina platform) Complex genomic profiling – Foundation One Dx All the types of genetic alterations Complex genomic signatures SHIFTING HEALTH CARE PARADIGM TOWARDS PRECISE MEDICINE
  • 17. Tools for molecular residual disease detection and optimizing patients' management
  • 18. MOLECULAR TESTING APPLICATIONS: • Hereditary cancer diagnostics and family risks assessment • Identifying patients with high risk of recurrence and making a decision on the best treatment options (Luminal Types) • Evaluating predictive markers for tailoring treatment for the best patients benefits • Non-invasive cancer monitoring and molecular residual disease detection • Comprehensive genomic profiling supports clinicians in decision making and improves patients` outcomes and care NGS-panels for solid tumors NGS-panel for BRCA1/2 testing 30-genes panel for hereditary cancer CONCLUSIONS
  • 19. THANK YOU FOR ATTENTION!

Editor's Notes

  1. Currently decision making when dealing Pathocolgic complete response
  2. Having such an efficient tool do ewe really need moleculartesting for patietns with breast cancer