Abstract 5772
Background
Over the past decade an increase in the incidence and severity of multiple primary neoplasias has been observed. The main causes of multiple primary tumors (MPT) are genetic factors, environmental factors, infections with oncogenic viruses, etc. The aim of the current study was to explore the role of genes associated with familial cancers in MPT development.
Methods
The study included 12 MPT patients, of which 6 women with metahronous/synchronous breast and ovarian tumors; and 6 men who developed primary tumors with different localisation: bladder/bile ducts; rectum/pancreas; prostate/colon; prostate/sigma; sigma/stomach; palate/larynx+hypopharynx/tongue, respectively. Seventy five (9/12) of the patients had family history of cancer and 50% (6/12) early onset (<50y). Mutational screening was performed by NGS of a panel of 94 tumor-associated genes on MiSeq platform (Illumina).
Results
A total of 82 variants were found of which 18.3% were evaluated as clinically significant. Among selected variants 33.3% (5/15) were pathogenic, 13.3% (2/15) likely pathogenic and 53.3% (8/15) variants of uncertain significance (VUSs). Pathogenic/likely pathogenic variants were detected in the genes BRCA1 (20%), MLH1 (13.3%), BRCA2 (6.7%) and CDH1 (6.7%) while VUSs in PMS1, GPC3, DIS3L2, PRF1, STK11, DICER1, RET, and MSH6, respectively.
Conclusions
Overall, the genetic cause of MPT was found in 58.3% (7/12) of the patients. Further research is needed to evaluate the functional effect of all VUSs.
Clinical trial identification
Editorial acknowledgement
Grants D-71/03.05.2018/MU-Sofia; KP-06-OPR03/1719.12.2018/NSF; DUNK01-2/2009/NSF, MES Bulgaria.
Legal entity responsible for the study
Medical University of Sofia.
Funding
Medical University Sofia; National Science Fund, Ministry of Education and Science, Bulgaria. Grants D-71/03.05.2018/MU-Sofia; KP-06-OPR03/1719.12.2018/NSF; DUNK01-2/2009/NSF, MES Bulgaria.
Disclosure
All authors have declared no conflicts of interest.
Resources from the same session
5444 - Analysis of the tumor microenvironment and tumor genotype through different stages of lung adenocarcinoma
Presenter: Peter Zink
Session: Poster Display session 1
Resources:
Abstract
3124 - Does Progress achieved in the Treatment of Patients with Metastatic Non-Small-Cell Lung Cancer (NSCLC) reach the Elderly Population?
Presenter: Jorune Suipyte
Session: Poster Display session 1
Resources:
Abstract
5142 - Prognostic factors for non-small cell lung cancer patients with driver mutation negative and brain metastases (HOT 1701)
Presenter: Yoshihito Ohhara
Session: Poster Display session 1
Resources:
Abstract
1580 - A novel risk classification system based on nomogram scores to predict survival of patients presenting with brain metastases at the first diagnosis of NSCLC
Presenter: Pengfei Cui
Session: Poster Display session 1
Resources:
Abstract
4442 - Comparison of real-world response rate (rwRR) to RECIST-based response rate in patients with advanced non-small cell lung cancer (aNSCLC)
Presenter: Xinran Ma
Session: Poster Display session 1
Resources:
Abstract
5405 - Estimating the cost and survival impact of new aNSCLC therapies in Canada with the iTEN model
Presenter: Parneet Kaur Cheema
Session: Poster Display session 1
Resources:
Abstract
1893 - SMARCA4 Deficient Non-Small Cell Lung Cancer (NSCLC): A Comprehensive Genomic Profiling (CGP) Study
Presenter: Stephen Graziano
Session: Poster Display session 1
Resources:
Abstract
5582 - Exploring Resistance to Nivolumab [NIV] applying an Immune Genomic Signature (IGS) in advanced pretreated NSCLC [PRINCiPe study]
Presenter: Sara Pilotto
Session: Poster Display session 1
Resources:
Abstract
1408 - DNA damage repair deficiency is associated with early resistance to crizotinib: whole-genome analysis in non-small cell lung cancer patients with ALK-fusion
Presenter: Dongyun He
Session: Poster Display session 1
Resources:
Abstract
5751 - Phase 3 ALTA-3 study of brigatinib (BRG) vs alectinib (ALC) in patients (pts) with advanced anaplastic lymphoma kinase (ALK)−positive non–small cell lung cancer (NSCLC) that progressed on crizotinib (CRZ)
Presenter: Sanjay Popat
Session: Poster Display session 1
Resources:
Abstract