Implementation of BRCA mutations testing in formalin-fixed paraffin-embedded (FFPE) samples of different cancer types

Zannini, Giuseppa; Facchini, Gaetano; Sio, Marco De; Vita, Ferdinando De; Ronchi, Andrea; Orditura, Michele; Vietri, Maria Teresa; Franco, Renato; Accardo, Marina; Marino, Federica Zito

doi:10.1016/j.prp.2023.154336

Cited by 3 publications

(2 citation statements)

References 110 publications

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“…Furthermore, it has recently been shown that the benefit of combo therapy (olaparib and bevacizumab) is particularly high for patients with mutations located in the BRCA1/2 DNA-binding domain, and is also associated with a good or excellent outcome [17]. Therefore, the independence of our academic HRD pipelines in relation to the BRCA1/2 testing could facilitate the assay implementation: a patient diagnostic pathway based on the HRD screening, followed by BRCA1/2 tumor and germline testing (reflex modality), could significantly reduce the issues related to the errors in BRCA1/2 assessment which are still affecting the different commercial and in-house pipelines [11,[19][20][21].…”

Section: Discussionmentioning

confidence: 99%

“…(a) Our assessment is completely independent of the BRCA1/2 results. In this regard, although the guidelines for tumor BRCA testing [23] have been published, many studies have recently shown that the rate of failure of somatic BRCA testing still does not fall below 2-5% of the overall samples tested, using the different methodologies routinely used [19][20][21]. The failure is also related to different modalities of variant classification [24,25].…”

Section: Discussionmentioning

confidence: 99%

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Homologous Recombination Deficiency (HRD) Scoring, by Means of Two Different Shallow Whole-Genome Sequencing Pipelines (sWGS), in Ovarian Cancer Patients: A Comparison with Myriad MyChoice Assay

Scaglione,

Pignata,

Pettinato

et al. 2023

IJMS

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High-grade serous ovarian cancer (HGSOC) patients carrying the BRCA1/2 mutation or deficient in the homologous recombination repair system (HRD) generally benefit from treatment with PARP inhibitors. Some international recommendations suggest that BRCA1/2 genetic testing should be offered for all newly diagnosed epithelial ovarian cancer, along with HRD assessment. Academic tests (ATs) are continuously under development, in order to break down the barriers patients encounter in accessing HRD testing. Two different methods for shallow whole-genome sequencing (sWGS) were compared to the reference assay, Myriad. All these three assays were performed on 20 retrospective HGSOC samples. Moreover, HRD results were correlated with the progression-free survival rate (PFS). Both sWGS chemistries showed good correlation with each other and a complete agreement, even when compared to the Myriad score. Our academic HRD assay categorized patients as HRD-Deficient, HRM-Mild and HRN-Negative. These three groups were matched with PFS, providing interesting findings in terms of HRD scoring and months of survival. Both our sWGS assays and the Myriad test correlated with the patient’s response to treatments. Finally, our AT confirms its capability of determining HRD status, with the advantage of being faster, cheaper, and easier to carry out. Our results showed a prognostic value for the HRD score.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Homologous Recombination Deficiency (HRD) Scoring, by Means of Two Different Shallow Whole-Genome Sequencing Pipelines (sWGS), in Ovarian Cancer Patients: A Comparison with Myriad MyChoice Assay

Scaglione,

Pignata,

Pettinato

et al. 2023

IJMS

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Recommandations francophones pour la pratique clinique concernant la prise en charge des cancers du sein de Saint-Paul-de-Vence 2022-2023

Gligorov,

Benderra,

Barthere

et al. 2023

Bulletin du Cancer

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Phase II trial of niraparib for BRCA -mutated biliary tract, pancreatic and other gastrointestinal cancers: NIR-B

Kawamoto,

Morizane,

Komatsu

et al. 2024

Future Oncology

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Due to the widespread use of cancer genetic testing in gastrointestinal cancer, the BRCA1/2 genetic mutation has been identified in biliary tract cancer as well as pancreatic cancer. Niraparib is a poly(ADP-ribose) polymerase (PARP) inhibitor, and PARP inhibitors exert their cytotoxicity against cancer cells in the context of homologous recombination deficiency, such as BRCA mutations, via the mechanism of synthetic lethality. The aim of this phase II NIR-B trial is to evaluate the efficacy and safety of niraparib for patients with unresectable advanced or recurrent biliary tract cancer, pancreatic cancer or other gastrointestinal cancers with germline or somatic BRCA1/2 mutations revealed by genetic testing. The primary end point is an investigator-assessed objective response rate in each cohort. Clinical Trial Registration: jRCT2011200023 ( ClinicalTrials.gov )

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Implementation of BRCA mutations testing in formalin-fixed paraffin-embedded (FFPE) samples of different cancer types

Cited by 3 publications

References 110 publications

Homologous Recombination Deficiency (HRD) Scoring, by Means of Two Different Shallow Whole-Genome Sequencing Pipelines (sWGS), in Ovarian Cancer Patients: A Comparison with Myriad MyChoice Assay

Homologous Recombination Deficiency (HRD) Scoring, by Means of Two Different Shallow Whole-Genome Sequencing Pipelines (sWGS), in Ovarian Cancer Patients: A Comparison with Myriad MyChoice Assay

Recommandations francophones pour la pratique clinique concernant la prise en charge des cancers du sein de Saint-Paul-de-Vence 2022-2023

Phase II trial of niraparib for BRCA -mutated biliary tract, pancreatic and other gastrointestinal cancers: NIR-B

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