11 / 19
Page 34
Notes:
conferenceseries
.com
Volume 7, Issue 4(Suppl)
J Gastrointest Dig Syst, an open access journal
ISSN: 2161-069X
Gastro Congress 2017
September 11-12, 2017
September 11-12, 2017 | Paris, France
12
th
Euro-Global Gastroenterology Conference
Screening for Lynch Syndrome in young Saudi colorectal cancer patients using microsatellite instability testing
and next generation sequencing
Masood Alqahtani
University of Western Australia, Australia
Background:
Individuals with Lynch Syndrome (LS) have germline mutations in DNA mismatch repair genes that confer a greatly
increased risk of colorectal cancer (CRC), often at a young age. Identification of mutation carriers has been demonstrated to increase
their survival through improved surveillance. We previously identified 33 high risk cases for LS in the Saudi population by screening
for microsatellite instability (MSI) in the tumour DNA of 284 young CRC patients.
Aim:
The aim of the present study was to identify germline mutations in this cohort of patients.
Methods:
Peripheral blood DNA was obtained from 13 individuals who were at high risk of LS due to positive tumour MSI status
and young age (<60 years). Next generation sequencing, Sanger sequencing and Multiplex Ligation-dependent Probe Amplification
were used to screen for germline mutations in the MLH1, MSH2, MSH6 and PMS2 DNA mismatch repair genes. Variants were
cross-referenced against several mutation databases including the International Society for Gastrointestinal Hereditary Tumours
Incorporated database.
Results:
Germline mutations were identified in 8/13 (62%) high risk cases, comprising 4 mutations in MLH1 and 4 in MSH2. All
mutation carriers had a positive family history for CRC or endometrial cancer.
Conclusions & Significance:
Next generation sequencing is an effective strategy for the identification of young CRC patients who are
at high risk of LS by positive MSI status. We estimate that 7% of CRC patients aged <60 years in Saudi Arabia are due to LS, potentially
involving more than 50 new cases per year.
Biography
Masood Alqahtani has his expertise in Histocompatibility and Immunogenetics Clinical Laboratory. His role is to evaluate and monitor the graft survival during solid
organ and bone marrow transplantation to provide renal failure or leukemic patients with better quality of life. The cancer incidence in some transplanted patients
creates new pathway which is translational cancer research to improve healthcare. He has focused on colorectal cancer as it ranked the first cancer among Saudi
male and second among female according to the latest cancer registry report. The goal that he set is to create surveillance program for familial cancer patients
through genetic screening, family history and health awareness.
masood.alqahtani@research.uwa.edu.auMasood Alqahtani, J Gastrointest Dig Syst 2017, 7:4(Suppl)
DOI: 10.4172/2161-069X-C1-052