CANCER GENETICS

INTRODUCTION Some of our carcinogens for example UV (a

carcinogen), ultraviolet light has the capacity to
make thymine dimers in our DNA. This thymine
dimer will give way to form aberrant gene
expression and it could also cause cancers.

A brief review of a cell cycle is associated with

multiplication of cells, so we have the interphase
and the mitotic phase of the cell cycle. Now, the
cell cycle should be tightly regulated, and if its
not, there will be an overproduction of cells, the
buildup of cells since you have a lot of cells that
are formed from time to time, you create a mass
and that mass is what we call a tumor.
In a population, there are 33 of those 100 people
to develop cancer. Diagnosis and treatment now
we have what we call personalized medicine in
treating cancer because several cancers are
based on the individual genetic of a person.
Here also is also the application of
pharmacogenomics in which we apply
treatment or medications to a person based on
their genotype and genetic makeup of an
individual because a lot of us has a lot of
variations in terms of our genetic content.

Cancer is a highly genetic disease, although

some cancers are due to infectious in origin. In
medicine, we have the strict usage of the terms
cause and association. When we say cause that
type of substance or that etiology would surely
cause a certain disease, when you say A more appropriate term for tumor is
association, it can be potential risk factors that neoplasms. Now neoplasms are the more
could contribute to the development of a certain appropriate and pathologic term when you say
disease. growth or tumors. Neoplasms can be divided in
to a benign neoplasm and a malignant
neoplasm.

What is the differentiating term of a benign and

malignant? It’s considered benign if it has the
least to no capacity of invading surrounding
tissue and potentially metastasizing (the
spread of the cancer cells to distant areas) to
other organs. A tumor is considered to be
cancerous or malignant if it infiltrates nearby
tissue, it has the ability to spread or to invade
nearby tissue and can even metastasize.
CANCER CAUSING GENES

Oncogenes – result into cancer, abnormal form

of a proto-oncogene.
Proto-oncogenes – normal genes, that play role
in our basic machinery to ensure that our cells
that would multiply, and ones these proto-
oncogenes will be mutated and will always be
activated it now results to an oncogene.

Tumor suppressor genes are normal genes –

they balance the proto-oncogenes. Prevent cell
division, and control cell growth/multiplication.
CELL CYCLE CONTROL
LOSS OF CELL CYCLE CONTROL Telomeres – portion of chromosomes that are
found at the tips of the chromosomes.
Telomerase – enzymes that add telomeres at the
end of the chromosome.

Telomeres would act as a protection for the

chromosome. Meaning if you add telomeres, it
increases the survivability of the cell. It makes
the chromosome of the cell somewhat protected
from harm.

As a principle of aging, has also something to do

with the telomere. As we age, the length of the
telomeres would usually shorten but for cancer
cells, but cancer cells would make a way that
they have greater survivability over the normal
cell, so they add up telomeres at the end of its
chromosome.

INHERITED VS SPORADIC CANCER

We have several stem cells. Now stem cells are

pluripotent cells meaning they can form
several histologic types of cell; neurons,
fibroblasts, or even abnormal cancer cells.

During the formation of these cells, cell division

of course must take place. But what we want is
that we need to have a controlled cell division,
not too much not too less. If you have too much
of that cell division, that’s the main problem of
cancer.
TELOMERES AND TELOMERASE
ORIGIN OF CANCER
When you say specialization, it doesn’t
differentiate into its destined cell like a fibroblast,
neurons, or RBC, or epithelial cell.

a. Healthy specialized cell

b. Other mutations
c. Invasion and metastasis

CHARACTERISTICS OF CANCER CELLS

We have normal healthy epithelial cells, cells

that would line the surfaces of our body (skin,
mucous membranes, GI tract). Any cell can
develop cancer, the most common cancer is
due to the abnormal growth of the epithelial ANGIOGENESIS:
cells. Now, how does cancer develop? We 1. Nurture the tumor.
have a certain trigger, can be an inherited 2. Promote metastasis
mutation (germline mutation), or an
environmental carcinogen that would cause
mutation (occurs sporadically/ somatic
mutation).

You have now an environmental insult that

would cost mutation, and it can result into the
activation of an oncogene and inactivation of the
tumor suppressor gene. Now, this mutation will
result in to loss of cell division control and loss
of specialization, and malignancy often results
from a series of mutation, an infected cells
divides more than the cell types and it descends
form and eventually loses its specialized
characteristics.
ORIGIN OF CANCER CELLS

In the top portion of the illustration, we have ff.

cells: neurons, astrocytes, and
oligodendrocytes. Astrocytes and
oligodendrocytes are part of the glial cells of
the brain. Now, in the developing brain, stem
cells divide to self-renew itself and give rise to
early progenitor cells. Now these early
progenitor cells, would later in turn divide and
develop in to a late progenitor cell. Now, the
earlier the cell lineage, you have the CD133+ or
cluster of differentiation. It’s a marker that it is an
earlier lineage of the cell meaning it’s not yet
differentiated. So, these late progenitor cells
would lose later on the CD133 self-surface
marker. Later on the late progenitors will divide UNCONTROLLED TISSUE REPAIR MAY
CD133-. CAUSE CANCER

In a cancer, there is no specialization. The

marker would be the positivity of CD133.
CANCER BY LOSS OF SPECIALIZATION

DEDIFFERENTIATION REVERSES
SPECIALIZATION

ONCOGENES

CD133- is a specialized type of cell.

CANCERS FORM SHIFTING BALANCE OF
CELL TYPES IN A TISSUE
FUSION PROTEINS
But these are not a conclusive
recommendations. For a certain
regimen/medication to be prescribed, it should
be backed up with good evidence that it can
prevent cancers.
skin cancer is a regular inspection of the skin
to check for any abnormal growth of moles or
nevus. Lung cancer is usually CT scan but it is
not usually routinely performed. Prostrate
cancer is PSA or examination of the prostate.

Non-selectively – they can also potentially cause

the destruction of normal dividing cells such as
the cells of the intestines and our skin. That’s why
it could result into several side effects.

The most common side effect of chemotherapy is

nausea and vomiting. We have several drugs to
counteract the side effects, which is
ondansetron – a type of drug that is ant-emetic
that prevents nausea and vomiting for the
treatment the chemotherapy-induced nausea
and vomiting.

We have several tumor markers are utilized in

cancer, but they are not used as a cancer
screening (not all of them). Very good example of
a tumor marker in which we can use as a
screening is the prostate-specific antigen
(PSA) – used in the screening test for cancer. For
breast cancer the screening test is
mammography for older women and breast
ultrasound for younger women. For colon
cancer we have the FOBT Fecal Occult Blood
Test, colonoscopy, or sigmoidoscopy. For