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Ms. Piyapa Pear Tantisirivat

Mr. Abel Cadias
English / 10:05
June 20, 2016
How Mutation of Gene Causes Breast Cancer
Mutation of gene that causes stomach cancer can also cause breast cancer based on
studies. The purpose of this research report was to explain how gene mutation of stomach
cancer can also cause breast cancer. The importance of this research report is to provide
awareness on how gene mutation of stomach cancer can also cause breast cancer. This
pieces of information were based on six resources. First, Genetic Science learning center
talked about mutation of gene. Second, Mayo Clinic discussed the causes of cancer
focusing on mutation of gene. Third, the article Mutation of the Month: Hereditary
Diffuse Gastric Cancer explained about the mutation of gene that causes stomach cancer.
Fourth, the article entitled CDH1 revealed the mutation gene named CDH1 can cause
both stomach cancer and breast cancer. Fifth, Stanford identified genetic testing and
genetic counseling for the mutation of gene called CDH1. On the other hand, National
Cancer Institution indicated some mutation of genes that causes only breast cancer but not
stomach cancer.
Mutation of Gene
Human bodies are composed of a large number of genes which are up to twentyfive thousand genes. With the large number of genes and cell divisions, there is nothing
that can guarantee that errors will not happen. This makes mutation of gene become
natural and ordinary processes in human, but sometimes they can be very harmful. Based
on Genetic Science Learning, mutation of gene is when there is a change in DNA which
makes it look and behave different from the normal condition. The word mutant stands
for something that is damaged and unsuitable.

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Genes are made up of DNA which is composed of three things which are
phosphate group, pentose sugar and nitrogen bases. Every gene requires specific number
of components and types of nitrogen bases. Understanding Evolution explained that there
are four types of mutations of gene. First of all is substitution. It is the type of mutation of
gene that other nitrogen bases replace with the original ones. Second is insertion. It is the
mutation where DNA is added by extra pairs of nitrogen bases. Third is deletion. This is
the mutation where some parts of DNA are disappearing or missing. The last but not least
is frame shift. This is caused by indels which make DNA sequences no longer be divisible
by three. DNA is needed to divide by three in the transition and translation processes that
need in producing protein that is significant in body functioning. When the composition in
making DNA is not in the appropriate ratio, it definitely affects gene and bodies function.
The levels of mutation of gene are depended on how human bodies use that gene or
protein. It can be rated by a range of effects in three levels. First of all is the mutation that
is not noticeable and very mild. This can occur in various situations and have no effects
on our bodies. This occurs due to the mutation in DNA that does not have any particular
function. Second is the mutation that effects on human body slightly which results in little
change in human bodies. This occurs due to the mutation of gene that occurs in gene that
human bodies slightly use. Finally, the mutation that has the biggest effect on our bodies.
Only this mutation can be harmful to all over body. It can cause disease or even death.
This is because it occurs on human significant gene that human bodies need to have and
use it in order to survive. There are two main factors that can cause mutation of gene. First
factor is endogenous factor or native factor. This happens inside organisms in which DNA
that fails to copy correctly which is caused by cellular machinery. Another factor is from
external environment or exogenous factor. This can be caused by the exposure to the
chemical like strong radioactive which cause DNA to break down. It can also be cause by

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the sunlight, smoking or other chemicals too.

However, Mayo clinic indicated that mutation of gene can sometime be reversible.
DNA, itself can repair incongruity and damaged DNA to be back like a normal one.
However, some mutations are very serve in which repair machinery in human bodies can
no longer fix which result in remaining damaged. This is the reason why DNA can cause
diseases like cancer. Regularly, cells will know when to stop producing or growing in
order to maintain in the proper amount that our bodies need. When cells are mutated, they
become malfunction and unable to regulate numbers of cell result in tumors grow in
human bodies.
Mutation of Gene and Stomach Cancer
Harvard Medical School explained that stomach cancer which is also known as
gastric cancer occurs when numerous cancerous cells grow in the lining of our stomachs.
Patients usually have no sign before reaching further stages and the prognosis is poor. It is
rare to be diagnosed before the age of 50 and most occur at the age of sixty. There are
many factors that can cause this cancer. It can come from eating behavior, surgery or
inherit. This can also come from gene mutation.
Although there are many types of mutation of gene that can cause cancer, but there
is only one gene that cause this type of cancer. U.S. National Library of Medicine pointed
out that the gene that causes gastric cancer is called CDH1. It is located in chromosome
12 at about q22.1. This mutated gene is now founded in more than 100 families all over
the world and increases every year. This is because it can pass on from mother to infant
with the high percentage at about fifty percent chance. Moreover, it is possible that
parents who carry this mutated gene do not show any signs of symptoms. This makes
them do not acknowledge of having and inheriting this gene. E-cadherin which is given
procedure by CDH1 is one of proteins in the cadherin which helps in adhesion between

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cells in order to make tissue organize. Adhesion is the ability of cells in sticking together.
It can also be found in the membrane that covers epithelial cell. It is one of the four main
tissues that line the surfaces and cavities of organ in bodies. Moreover, it is associated in
controlling chemical transmitting within cells and also activities of genes. It also controls
cell movement and mutation too. When people have this gene mutation, it usually makes
people produce abnormal forms of CDH1 which are short and do not particular perform
function. It can also make people produce protein with amend form too. This makes
human bodies stop to control tumor growing and lead to the unstoppable cell division and
growth which increases the risk of getting cancer. Moreover, cancer cells are likely to
enter stomach wall and these cancer cells can be spread into other adjacent tissues too.
However, this can be tested by genetic testing. Genetic testing usually starts when
people who have gastric and lobular breast cancer determine whether their cancers are
associated with CDH1 mutation. Stanford Health care suggested that genetic test may also
be considered when there are any criteria meet with these five situations. First of all is
when there are more than two cases of diffuse gastric cancer in family or relatives.
Moreover, they have to have at least one of family member that has this cancer diagnosed
when he or she is younger than 50 years old. Second is when there are more than three
cases of gastric cancer in family. This is no longer limited by ages. Third, when patient
has been diagnosed with this cancer and younger than 35 years old. Fourth is when patient
has both gastric cancer and lobular breast cancer. Finally, when one only one member in
family is diagnosed with this cancer and another type of cancer which is either lobular
breast cancer or signet ring colon cancer. However, this genetic should not be conducted
in the people who are younger than eighteen years old.

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Mutation of Gene and Breast Cancer

The statistic of Suratthani Hospital indicated that breast cancer is the type of
cancer in which women in Thailand have the most. This type of cancer kills 4223 people
every year. National Cancer institute revealed that breast cancer is usually associated with
hormone in females such as estrogen and progesterone. However, there are various types
of gene mutations that can cause breast cancer. The two main mutations of gene that can
cause breast cancer are BRAC1 and BRAC2 genes. Both BRAC1 and BRAC2 act as
tumors suppressers. Those help in maintaining the stabilities of gene in the cell which
include the reparation of damage in DNA, protein ubiquitination and the check point to
determine whether the activities inside cell are appropriate or not. Females with these
mutations have chances of diagnosing with breast cancer as high as sixty percent. Breast
cancer with these certain kinds of mutation is about ten percent of all breast cancer.
However, some mutation of genes does not cause only one specific cancer. Breast
cancer canter showed that only one mutation of gene can cause several types of cancers.
For example, mutated TP53 gene that causes LI-Fraumeni syndrome. LI-Fraumeni
syndrome causes soft tissue cancer in children can also cause breast cancer. It acts as
tumor suppressor like BRAC1 and BRAC2. It also creates higher change to get breast
cancer and various types of cancer such as brain cancer and leukemia. However, it does
not cause all types of cancer. In this case, mutation of gene called CDH1 can cause both
breast cancer and stomach cancer. United State National Library of medicine showed the
statistic that women who have this certain kind of mutation have a chance up to fifty
percent of getting breast cancer especially lobular cancer. Stanford Health care revealed
that patients with this mutation are usually diagnosed with lobular breast cancer at the age
over 50. Lobular cancer is the cancer of milk-producing glands. However there is one
surprising thing which is CDH1 in lobular breast cancer can sometimes be somatic which

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means that it does not inherit from parents and develops during their lifetimes.
BioMed central explained that the reason why CDH1 can cause breast cancer is
because it is associated with ILC. ILC is associated with exposure to female hormones
which is the one of the significant factor that can cause breast cancer. ILC in breast cancer
is usually aggressive and can spread quickly to all over body. In contrast with IDC,
patients with ILC usually have bigger size of tumor and the spreading of cancerous cell
into lymph node which makes patient usually be diagnosed at further stage. Moreover,
United State National library of Medicine shows that CDH1 mutation can also make
receptors of estrogen and progesterone become positive too. Also, the lack of E-cadherin
can also lead has the effects like in the stomach cancers too.
By having very high chances to develop cancer during lifetime, Stanford Health
care suggested the way to screen for lobular breast cancer. First is brain MRI. MRI stands
for magnetic resonance imaging. It is the test that use radio wave energy and magnetic
field to create the image of organs inside bodies. MRI is the way that use to screen for
cancer because it does not affect human bodies since it does not contain any radiation or
chemical. Another way that can use to consult breast cancer is mammography which is
using the low-dose of x-ray radiation to examine breast. This helps in diagnosing at the
early state.
Conclusion
The purpose of this research report was to explain how gene mutation of stomach cancer
can also cause breast cancer. This research report concluded that mutation of gene called
CDH1 that causes stomach cancer can also cause breast cancer. This occurs due to the
lack of E-Cadherin proteins which make cells grow uncontrollably resulting in cancer.
Moreover, it reduces cell adhesion which makes cancer cells be able to easily spread to

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adjacent tissues. However, there are genetic testing that can use to identify this mutated
gene. On the other hand, there are some types of mutation that cause breast cancer, but
they do not cause stomach cancer. This research report recommends further studies on
how mutation of gene that cause breast cancer does not cause stomach cancer.

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References

BioMed Central. (2015, May 13). Lobular breast cancer: incidence and genetic
and non-genetic risk factors. Retrieved May 20, 2016, from
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s13058-015-0546-7
BRCA1 and BRCA2 Testing. (2016, May 16). Retrieved May 20, 2016, from
http://www.breastcancer.org/symptoms/diagnosis/brca
Genetic Learning Center. (n.d.). What Is Mutation? Retrieved May 20, 2016, from
http://learn.genetics.utah.edu/content/variation/mutation/
Harvard Medical School. (2012, July 09). Stomach cancer. Retrieved May 20,
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cancer/stomach-cancer
Mayo Clinic. (2015, May 23). Causes of cancer. Retrieved 20 May 2016, from
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con-20032378
National Cancer Instituite. (2015, April 01). BRCA1 and BRCA2: Cancer Risk
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National Institutes of Health. (2011, April 18). The role of BRCA1 in DNA
damage response. Retrieved May 20, 2016, from
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Other Abnormal Gene Testing. (2016, May 16). Retrieved May 20, 2016, from
http://www.breastcancer.org/symptoms/diagnosis/other-gene-testing
Stanford Health Care. (n.d.). CDH1 Gene Mutation. Retrieved May 20, 2016, from
https://stanfordhealthcare.org/medical-conditions/cancer/hdgc.html
U.S. National Library Of Medicine. (2015, May). CDH1. Retrieved May 20, 2016,
from https://ghr.nlm.nih.gov/gene/CDH1
Understanding Evolution. (n.d.). DNA: The molecular basis of mutations.
Retrieved May 20, 2016, from http://evolution.berkeley.edu/evolibrary/
article/0_0_0/mutations_02