Abstract 2966
Background
Multiple high- and moderate- penetrance gene (including BRCA1 and BRCA2) have been discovered as susceptibility gene for hereditary breast and ovarian cancer. Recent advances in Next-generation sequencing (NGS) have provided an efficient method to evaluate these susceptibility gene simultaneously. The prevalence and clinical prediction factors associated with the pathogenic variants (PVs) have not been well studied in Chinese population.
Methods
Subjects were selected from individuals referred for genetic testing using a 21-gene panel (Oseq-BRCA) between January 2015 and March 2018. The distribution and prevalence of deleterious mutations were analyzed for the full cohort as well as subtypes.
Results
Overall, 176 deleterious mutations were observed in 19.50% (n = 172) individuals. Of these, 26 mutations are not reported in public databases and literatures. In the ovarian cancer only subgroup, 115 deleterious mutations were identified in 429 patients (48.6%). Patients with ovarian cancer with mutations were enriched for a family history of breast or ovarian cancers (p < 0.05). In the breast cancer only subgroup, 31 deleterious mutations were identified in 261 patients. Most mutations occurred in BRCA1 (8; 25.8%) and BRCA2 (11; 35.5%). An additional 12 deleterious mutations (38.7%) were found in 7 other susceptibility genes. An increased frequency of mutation rate (57.9%) was observed in the subgroup of subjects with histories of both breast and ovarian cancer. Taken together, 19.50% of individuals carried a deleterious mutation in HBOC susceptibility genes in our cohort. Subgroup of subjects with histories of both breast and ovarian cancer had the highest prevalence of mutations.
Conclusions
Our results highlighted the genetic heterogeneity of HBOC and the efficiency of multigene panel in performing risk assessment.
Clinical trial identification
Our results highlighted the genetic heterogeneity of HBOC and the efficiency of multigene panel in performing risk assessment.
Editorial acknowledgement
Legal entity responsible for the study
BGI Genomics.
Funding
BGI Genomics.
Disclosure
D. Shao: Full / Part-time employment: BGI genomics. S. Cheng: Full / Part-time employment: BGI genomics. F. Guo: Full / Part-time employment: BGI genomics. Y. Yuan: Full / Part-time employment: BGI genomics. K. Hu: Full / Part-time employment: BGI genomics. Z. Wang: Full / Part-time employment: BGI genomics. X. Meng: Full / Part-time employment: BGI genomics. X. Jin: Full / Part-time employment: BGI genomics. X. Yun: Full / Part-time employment: BGI genomics. X. Chai: Full / Part-time employment: BGI genomics. H. Li: Full / Part-time employment: BGI genomics. Y. Zhang: Full / Part-time employment: BGI genomics. H. Zhang: Full / Part-time employment: BGI genomics. M. Ye: Full / Part-time employment: BGI genomics. All other authors have declared no conflicts of interest.
Resources from the same session
1694 - Pembrolizumab (pembro) Plus mFOLFOX or FOLFIRI in Patients With Metastatic Colorectal Cancer (mCRC): KEYNOTE-651 Cohorts B and D
Presenter: Richard Kim
Session: Poster Display session 2
Resources:
Abstract
908 - Romidepsin (FK228) Regulates the Expression of the Immune Checkpoint Ligand PD-L1 and Exerts Synergistic Anti-Tumor Activity with an Anti-PD-1 Antibody in Colon Cancer
Presenter: Hui Li
Session: Poster Display session 2
Resources:
Abstract
3127 - Prognostic significance of circulating regulatory T lymphocytes (Tregs) in patients with metastatic colorectal cancer (mCRC) under treatment with first line chemotherapy.
Presenter: Zafeiris Zafeiriou
Session: Poster Display session 2
Resources:
Abstract
5416 - The SAFFO study: Sex-related prognostic role And cut-oFf deFinition of monocyte-to-lymphocyte ratio (MLR) in metastatic colOrectal cancer
Presenter: Camilla Lisanti
Session: Poster Display session 2
Resources:
Abstract
2518 - SPICE, a phase I study of enadenotucirev in combination with nivolumab in tumors of epithelial origin: analysis of the metastatic colorectal cancer patients in the dose escalation phase
Presenter: Marwan Fakih
Session: Poster Display session 2
Resources:
Abstract
4000 - Phase 1/2 study with CXCL12 inhibitor NOX-A12 and pembrolizumab in patients with microsatellite-stable, metastatic colorectal or pancreatic cancer
Presenter: Niels Halama
Session: Poster Display session 2
Resources:
Abstract
2223 - Microsatellite Instability Status in Metastatic Colorectal Cancer and Effect of Immune Checkpoint Inhibitors on Survival in MSI-High Metastatic Colorectal Cancer
Presenter: Wataru Okamoto
Session: Poster Display session 2
Resources:
Abstract
2569 - Phase II trial of Trametinib (T) and Panitumumab (Pmab) in RAS/RAF wild type (wt) metastatic colorectal cancer (mCRC)
Presenter: Kanan Alshammari
Session: Poster Display session 2
Resources:
Abstract
5402 - Microsatellite instability and immunogenicity in colorectal cancer – do resident memory Tcells (Trm) play a role in colorectal cancer
Presenter: Wei Toh
Session: Poster Display session 2
Resources:
Abstract
5472 - Early response evaluation and CEA response in patients treated in a Danish randomized study comparing trifluridine/tipiracil (TAS-102) with or without bevazicumab in patients with chemorefractory metastatic colorectal cancer (mCRC)
Presenter: Camilla Qvortrup
Session: Poster Display session 2
Resources:
Abstract