REVIEW ARTICLE
Corresponding Author: M. Garshasbi
Department of Medical Genetics, School of Medical Sciences, Tarbiat Modares University, Tehran, Iran
Tel: +98 21 82884569, Fax: +98 21 82884555, E-mail address: masoud.garshasbi@modares.ac.ir
Pharmacogenetics and Personalized Medicine in Pancreatic Cancer
Ali Hosseini Bereshneh
1
, Fatemeh Morshedi
2
, Mahsa Hematyar
3
, Arastoo Kaki
1
, and Masoud Garshasbi
1
1
Department of Medical Genetics, School of Medical Sciences, Tarbiat Modares University, Tehran, Iran
2
Department of Genetics, School of Sciences, Science and Research Branch, Islamic Azad University, Tehran, Iran
3
Department of Biology, School of Biological Sciences, Kharazmi University, Tehran, Iran
Received: 25 Dec. 2016; Revised: 08 Jan. 2017, Accepted: 12 Feb. 2017
Abstract- Pancreatic cancer ( CP ) is a progressive, fatal disease with a high degree of malignancy. More
than 40000 people die from this cancer annually in the United States. As a multifactorial condition, PC has a
complex nature, and there are several genes and signaling pathways implicated in PC pathogenesis and
progression. There are diffèrent mutations in master genes including tumor suppressors and oncogenes that
lead to Pancreatic intraepithelial neoplasia (PanIN) which is the most common non-invasive precursor lesion
of pancreatic cancer. These mutations influence directly or indirectly the cycle of Pharmacodynamics profile.
Interactions between genetics and drug metabolism could be considered as one of the most important insights
in the personalized medicine and targeted therapy based on the genetic profile of each affected person. In this
literature, we will discuss pathogenesis and susceptibility to PC, pharmacogenetics and personalized medicine
in pancreatic cancer and scrutinized the most important genes, variations and signaling pathways that
influence individualized therapy of PC.
© 2017 Tehran University of Medical Sciences. All rights reserved.
Acta Med Iran 2017;55(3):194-199.
Keywords: Pancreatic cancer; Pharmacogenetics; Personalized medicine
Introduction
Pancreatic cancer (PC) is a progressive, fatal disease
with a high degree of malignancy. Many aspects of the
disease are still unknown. According to cancer statistics
of United States, themortality rate of PC in men and
women are about 21000 and 20000 cases respectively.
Although mortality rate in both sexes is almost similar
and is about 7%, but the incidence of PC in women are
more than men (1). Our understanding of the genetics
and molecular basis of PC has increased dramatically
over the past decades and identified several germlines
and somatic mutations which could be considered as
master genes in the pathogenesis and progression of PC.
These mutations could impact directly or indirectly on
the cycle pharmacokinetic profile, and they could
influence the diagnosis and therapeutic management
process of the patients. New approaches such as whole
exome next generation sequencing and bioinformatics
analysis have yielded to vast, valuable information about
the molecular biology of cancers and have discovered
numbers of genes and mutations related to cancers as
well as new variants which they can be important in
cancer diagnosis and prognosis (2). Recently, Whole
Genome Sequencing has detected an average of 63
mutations in both males and females affected. This
finding demonstrates PC as a heterogeneous disease (3).
The time and frequency of acquired somatic
mutations specifies the duration of the normal tissue
conversion into a pancreatic carcinoma tissue. This has
been determined through the study of pancreatic
epithelial neoplasia and PC non-progressive precursor
Lesion (PanlN) (4). PanlN is graded into forms 1 to 3,
and these various forms are cytologically and
pathologically different. A genetic alteration in PanIN-3
is higher than other types. This higher molecular change
in PanIN-3 has shown more susceptibility to progression
toward malignancy. Generally, most of the patients have
mutations in at least one of the following four known
genes (KRAS, CDKN2A, DPC4, P53) (5).
KRAS activating mutations are one of the first
genetic events in PC which is mutated in 35% of PanIN-
1 and 75% of PanIN-3 lesions (6). Decreasing
expression of P16/INK4A, a Tumor Suppressor Gene
(T.S.G), similar to upregulation of KRAS, have been
shown to influence on the transformation of PC to
PanlNat early stages and includes around 85-95% of
sporadic pancreas cancers. The main reason for this