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Poster display session: Basic science, Endocrine tumours, Gastrointestinal tumours - colorectal & non-colorectal, Head and neck cancer (excluding thyroid), Melanoma and other skin tumours, Neuroendocrine tumours, Thyroid cancer, Tumour biology & pathology

2778 - Clinical validation of a NGS-based assay for the detection of BRCA1 and BRCA2 variants in Chinese patients with breast cancer or ovarian cancer

Date

21 Oct 2018

Session

Poster display session: Basic science, Endocrine tumours, Gastrointestinal tumours - colorectal & non-colorectal, Head and neck cancer (excluding thyroid), Melanoma and other skin tumours, Neuroendocrine tumours, Thyroid cancer, Tumour biology & pathology

Presenters

Guanshan Zhu

Citation

Annals of Oncology (2018) 29 (suppl_8): viii670-viii682. 10.1093/annonc/mdy304

Authors

Q. Gao1, G. Zhu2, H. Ge3, X. Li3, L. Ruan2

Author affiliations

  • 1 R&d, Amoy Diagnostics Co., Ltd., 361027 - Xiamen/CN
  • 2 Medical Oncology, Amoy Diagnostics Co., Ltd., 361027 - Xiamen/CN
  • 3 Ngs, Amoy Diagnostics Co., Ltd., 361027 - Xiamen/CN
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Resources

Abstract 2778

Background

Variation in BRCA1 and BRCA2 genes are associated with the development of hereditary breast cancer and ovarian cancer (HBOC) and sensitivity to poly ADP-ribose polymerase inhibitors (PARPi). A genetic testing assay based on next-generation sequencing (NGS) method, named AmoyDx BRCA1 and BRCA2 Mutation Detection Kit (ADx-BRCA NGS kit), has been developed for the detection of BRCA1/2 variants. The present study evaluated the clinical performance of the ADx-BRCA NGS kit in detecting BRCA variants in peripheral blood-derived DNA.

Methods

A cohort of 1,341 peripheral blood samples from Chinese patients were analyzed for BRCA1/2 variation using ADx-BRCA NGS kit, including 1,035 patients with breast cancer and 306 with ovarian cancer. BRCA MASTR Dx assay (Multiplicom) was used as a reference method to test the same cohort. ADx-BRCA NGS kit allows identification of variants in complete coding regions of BRCA1/2 genes which are also covered by the reference method, and 22 additional UTR regions beyond the coverage of the reference assay. The concordance of BRCA variation detected with ADx-BRCA NGS kit was calculated compared to the reference assay.

Results

In this study, all the 1,341 samples were successfully detected and the classification for BRCA1/2 variants identified by ADx-BRCA NGS kit in breast and ovarian cancer is listed in the table. Using BRCA MASTR Dx assay as relference, the overall concordance of BRCA variation status determined by ADx-BRCA NGS kit was 99.92% (1,286/1,287). In addition, 54 samples were excluded from the analysis due to the variation detected in the UTR regions that were not covered by reference method.Table: 1909P

Classification for BRCA1/2 variants detected by ADx-BRCA NGS kit

ClassDefinitionVariant amount in breast cancerVariant amount in ovarian cancerTotal
5Definitely pathogenic63 (6.09%)73 (23.86%)136 (10.14%)
4Likely pathogenic33 (3.19%)6 (1.96%)39 (2.91%)
3Uncertain101 (9.76%)40 (13.07%)141 (10.51%)
2Likely benign213 (20.58%)53 (17.32%)266 (19.84%)
1Benign625 (60.38%)134 (43.79%)759 (56.6%)
Total1,0353061,341

Conclusions

ADx-BRCA NGS assay has shown a high concordance rate of 99.92% compared to the BRCA MASTR Dx assay, demonstrating that it is a highly accurate method for the detection of BRCA1/2 variants and can be used to screen patients with germline BRCA mutations.

Clinical trial identification

Legal entity responsible for the study

Amoy Diagnostics Co., Ltd.

Funding

Has not received any funding.

Editorial Acknowledgement

Disclosure

All authors have declared no conflicts of interest.

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