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J Gastroenterol Dig Dis 2017 | Volume 2, Issue 3
World Gastroenterological &
Gastroenterology and Endoscopy
October 30-31, 2017 | Toronto, Canada
World Congress on
Update in genetic colorectal cancer syndrome
Naim Abu Freha
Soroka University Medical Center, Israel
Introduction:
Colorectal cancer is the third common cancer
in the world. About 3-5% of the patients are carrier of genetic
syndrome with high risk of colorectal cancer (CRC) and others
malignancy. 20-30% of the patients with new diagnosed
colorectal cancer had a family history of colorectal cancer.
The most common hereditary syndrome is Lynch Syndrome
(HNPCC hereditary non-polyposis colorectal cancer). Other
syndromes with increased number of polyps include Familial
adenomatous polyposis (FAP), attenuated FAP and MUTYH
associated Polyposis (MAP).
Genetics:
lynch syndrome is characterized by a germline
mutation at a defective DNA mismatch repair (MMR)
genes, with a high level of microsatellite instability. The
most common genes involved in the syndrome are MLH1,
MSH2, MSH6, PMS2 and EpCAM. FAP caused by APC gene
defects and MAP caused by a defect in the MUTYH gene.
Lynch syndrome and FAP are inherited autosomal dominant,
while MAP inherited autosomal recessive. Diagnosis is
made by genetic investigation, founder mutation and gene
sequencing.
Cancer risk:
Mutation carrier of the different types of the
syndromes has increased risk of colonic and extra-colonic
neoplasm. The lifetime CRC risk is estimated to be 50-80%
in HNPCC and about 100% in FAP. The risk of the malignancy
development is depending on mutation and gene.
Clinical setting:
Amsterdam criteria and revised Bethesda
criteria were developed to identify persons and families
with high risk form Lynch syndrome. Patients with FAP are
characterized by thousands of polyps and MAP patients by
10-100 of polyps.
Universal screening for lynch syndrome:
shouldpatientswith
colorectal cancer or endometrial cancer undergo screening
by immunohistochemistry (IHC) or microsatellite instability
(MSI) for lynch syndrome? Yes, several recommendations
include the universal screening for all diagnosed patients
under age 70 years. The Surveillance recommendation
and treatment with aspirin or cox2 will be discussed. All
the above points will be updated and discussed during the
lecture.
Speaker Biography
Naim Abu-Freha received his MD from the Tuebingen University, Germany at 2005
beforebecomingresidentat internalmedicineandthencompletedhisgastroenterology
residency at the Soroka Medical Center at 2014. He received his master degree MHA
from Ben-Gurion University, Beer-Sheva, Israel. He researched different topics in
gastroenterology/Hepatology and different issues regarding the Bedouin Arab minority
in southern Israel. He is one of the founders groups of the Arab Medical Associations in
the Negev (AMAN) and the first Chairman of the Associations since 2015.
e:
abufreha@yahoo.de