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
3309 - Heat Shock Protein 90 chaperones and Protein Kinase D3 regulates androgen-independent prostate cancer development
Presenter: Attila Varga
Session: Poster Display session 1
Resources:
Abstract
3441 - The SWI/SNF driven reprograming for the AR cistrome is NSD2 dependent
Presenter: Katia Ruggero
Session: Poster Display session 1
Resources:
Abstract
1659 - IGF1R inhibition affects the survival of HT29 cancer cells by alterations of the TLR9- and autophagy signaling
Presenter: Györgyi Műzes
Session: Poster Display session 1
Resources:
Abstract
1379 - Characterization of atypical dMMR (deficient MisMatch Repair) tumors: a study from a large cohort of 4948 cases
Presenter: Marion Jaffrelot
Session: Poster Display session 1
Resources:
Abstract
1657 - Modulation of TLR9-dependent autophagy response via inhibition of c-Met signaling influences the survival of HT29 cancer cells
Presenter: Ferenc Sipos
Session: Poster Display session 1
Resources:
Abstract
3045 - Positive Feedback Activation of Notch Signal by Obesity Enhances Colorectal Tumorigenicity
Presenter: Dake Chu
Session: Poster Display session 1
Resources:
Abstract
2285 - The Pathological and Functional Roles of BRPF1 in Hepatocellular Carcinoma
Presenter: Lai Hung Carol Cheng
Session: Poster Display session 1
Resources:
Abstract
3210 - Protein tyrosine phosphatase non-receptor type 3 (PTPN3) could be a new therapeutic target for pancreatic cancer.
Presenter: Akio Yamasaki
Session: Poster Display session 1
Resources:
Abstract
3920 - A Novel bispecific BCMAxCD3 T cell engaging antibody that treat multiple myeloma (MM) with minimal cytokine serection
Presenter: Zhenyu Li
Session: Poster Display session 1
Resources:
Abstract
2691 - Quantitative spatial profiling of lymphocyte-activation gene 3 (LAG-3)/major histocompatibility complex class II (MHC II) interaction in gastric and urothelial tumors
Presenter: Cyrus Hedvat
Session: Poster Display session 1
Resources:
Abstract