Skip to Main content Skip to Navigation
Master Thesis

Approches bio-informatiques de caractérisation d’une signature moléculaire HRD sur des cohortes de patientes atteintes de cancer du sein ou des ovaires en tissus FFPE

Abstract : Approximately 25-50% of breast and ovarian cancer have a homologous recombination repair pathway deficiency (HRD). HRD tumors are sensitive to poly-ADP ribose polymerase inhibitors (PARPi), which have recently been approved for use in HRD breast and ovarian cancers. These tumors were originally associated with germline or somatic alterations in HR pathway genes, such as BRCA1 or BRCA2 found in 60% of HRD tumors. This observation has led to the emergence of HRD molecular signatures as an eligibility test for PARPi rather than BRCA1/2 targeted testing. The majority of bioinformatics tools enabling the detection of such signatures have been developed from whole genome or exome (WES) sequencing from fresh frozen tumors, which is difficult to extrapolate in the clinical setting. Using a new bioinformatics pipeline, we first assessed the ability to detect the HRD signature on WES data from FFPE tissues using a normal/tumor analysis. Then, we extrapolated this pipeline with data from targeted panels used in diagnostic laboratories. This pipeline successfully detects HRD tumors from FFPE samples using WES sequencing, but not targeted panels.
Complete list of metadata

https://dumas.ccsd.cnrs.fr/dumas-03411748
Contributor : Médecine UB Connect in order to contact the contributor
Submitted on : Tuesday, November 2, 2021 - 3:01:18 PM
Last modification on : Saturday, December 11, 2021 - 3:49:13 AM
Long-term archiving on: : Thursday, February 3, 2022 - 7:20:35 PM

File

Med_Spe_2021_Matis.pdf
Files produced by the author(s)

Identifiers

  • HAL Id : dumas-03411748, version 1

Collections

Citation

Thibault Matis. Approches bio-informatiques de caractérisation d’une signature moléculaire HRD sur des cohortes de patientes atteintes de cancer du sein ou des ovaires en tissus FFPE. Sciences du Vivant [q-bio]. 2021. ⟨dumas-03411748⟩

Share

Metrics

Record views

29

Files downloads

3