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The BRCA1 gene is crucial for tumor suppression and DNA repair, playing a significant role in embryonic development and gene regulation. Genetic testing and family medical history analysis are important for assessing breast and ovarian cancer risks, which are influenced by factors like gender, age, and family history. While BRCA1 and BRCA2 mutations significantly increase cancer risk, other genes also contribute to hereditary breast cancer, highlighting the complex interplay of genetics and environmental factors in cancer development.

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TOOMY LEITO
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13 views3 pages

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The BRCA1 gene is crucial for tumor suppression and DNA repair, playing a significant role in embryonic development and gene regulation. Genetic testing and family medical history analysis are important for assessing breast and ovarian cancer risks, which are influenced by factors like gender, age, and family history. While BRCA1 and BRCA2 mutations significantly increase cancer risk, other genes also contribute to hereditary breast cancer, highlighting the complex interplay of genetics and environmental factors in cancer development.

Uploaded by

TOOMY LEITO
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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1. The BRCA1 gene encodes a protein that inhibits the growth of tumors.

Tumor suppressor
proteins work to stop cells from proliferating and developing uncontrollably.
Among the proteins involved in fixing harmed DNA is BRCA1. The BRCA1 protein
collaborates with a network of other proteins in the nucleus of most normal cell types to
repair faulty DNA. Natural and medicinal radiation, as well as other environmental
exposures, can produce these breaks, and they also occur during the process of
chromosomal exchange prior to cell division. The BRCA1 protein serves a vital function in
ensuring the integrity of a cell's genetic data by aiding in DNA repair.
The BRCA1 protein has been found to have an important function in embryonic
development and the regulation of the function of other genes. The BRCA1 protein
interacts with numerous other proteins, including tumor suppressors and cell-division
regulators, to carry out these roles.

2. Analyzing one's own and one's family medical history is the first step in determining one's
genetic risk, with genetic testing as a potential next step. A person's risk can be affected
by a variety of circumstances, such as their gender(This is the main risk factor for breast
cancer. Men can get breast cancer, too, but this disease is much more common in women
than in men.), age(As you get older, your risk of breast cancer goes up. Most breast
cancers are found in women age 55 and older.), and family history(About 5% to 10% of
breast cancer cases are thought to be hereditary, meaning that they result directly from
gene changes (mutations) passed on from a parent.), among others. An individual's
optimal screening, follow-up, and risk management options can be determined with the
support of a thorough risk assessment. Benefits from various screening and risk
management strategies vary widely depending on an individual's preexisting disease risk.

3. The hereditary risk for breast cancer is between 5-10%, while for ovarian cancer it's about
10%-15%. When cancer runs in your family, it may be due to a mutation in a gene that
you received from your parents.
Increased risk of developing breast cancer is associated with inheriting a mutant copy of
either of these genes from a parent.
A woman with a mutation in the BRCA1 or BRCA2 gene has a 7 in 10 probability of
developing breast cancer before the age of 80. The number of other women in your family
who have had breast cancer also has a role in your risk. (It rises if more members of the
family are afflicted.)
These mutations increase the risk of developing breast cancer at an earlier age and in
both breasts in women.
Ovarian cancer isn't the only type of cancer more likely to strike women who have one of
these gene alterations. (Men who inherit these mutations also have an increased risk of
developing breast and other cancers.)
BRCA mutations are more prevalent in Ashkenazi (Eastern Europe) Jews in the United
States, however people of any race or ethnicity might be carriers.
4. Inherited breast cancers can also be caused by mutations in other genes. Mutations in
these genes are significantly less prevalent than those in the BRCA genes, and their effects
on breast cancer risk are often less severe.
ATM: The ATM gene is involved in repairing DNA damage (or killing the cell if repair is
impossible). Ataxia-telangiectasia is a disorder brought on by inheriting two faulty copies
of this gene. Some families with an aberrant copy of this gene have an increased risk of
developing breast cancer.
PALB2: A protein encoded by the PALB2 gene interacts with a protein resulting from the
BRCA2 gene. Increased susceptibility to breast cancer has been linked to mutations in this
gene.
TP53: The TP53 gene inhibits cell proliferation when DNA damage is detected. Li-Fraumeni
syndrome is brought on by inherited mutations in this gene. Cancers like leukemia, brain
tumors, and sarcomas can also be more common in people with this syndrome, although
breast cancer is the deadliest (cancers of bones or connective tissue). This mutation
causes breast cancer in extremely rare cases.
CHEK2: The CHEK2 gene is similar to CHEK1 in that it aids in DNA repair. Breast cancer risk
rises in women who have CHEK2 mutations.
PTEN: Normally, the PTEN gene aids in controlling cell development. Cowden syndrome
is a rare condition caused by inherited mutations in this gene, and it increases the risk of
developing breast tumors (both malignant and benign), as well as tumors in the digestive
tract, thyroid, uterus, and ovaries.
CDH1: Mutations in this gene are the leading cause of hereditary diffuse gastric cancer, a
disease characterized by the emergence of a particularly aggressive form of stomach
cancer that affects an extremely small percentage of the population. As with other forms
of breast cancer, invasive lobular breast cancer is more likely to develop in women who
carry this gene mutation.
STK11: Peutz-Jeghers syndrome is caused by mutations in the STK11 gene. Polyps
(abnormal growths) in the urinary and digestive tracts, and an increased risk of several
cancers, including breast cancer, are all symptoms of this illness.
While mutations in BRCA1 and BRCA2 are the most common inherited causes of breast
cancer, there are many other genes that have been connected to the disease.

5. Cancer is not a single illness but rather a cluster of over a hundred different diseases. It's
characterized by two key features: unchecked cell development inside the human body
and the capacity of these cells to move from the site of genesis and disseminate to other
locations. Cancer can be fatal if its spread isn't stopped.
Genes have a vital role in the development of cancer. It is DNA, the cell's master molecule,
of which a gene is a tiny subset. Proteins, which are produced from DNA, are the cells'
mainstays. Proteins are responsible for the myriad bodily activities that allow us to live,
including breathing, thinking, moving, etc.
The cells of a living organism constantly expand, divide, and die off and are replaced.
Proteins encoded by a plethora of genes play critical roles in regulating cell proliferation
and division. DNA mutations cause code disruption, leading to defective proteins. As a
result, the cell becomes aberrant and its growth is no longer regulated. A tumor or
neoplasm is the result of an aberrant cell's unchecked proliferation (medical term for
cancer meaning "new growth").
It is possible for a healthy person's immune system to identify neoplastic cells and
eliminate them before they may multiply. However, some mutant cells may avoid being
destroyed by the immune system, allowing them to grow into malignant tumors.
There are two main categories of tumors: benign and malignant. A tumor that is not
malignant is called benign. It grows slowly, doesn't infiltrate neighboring tissues, and
seldom returns after being surgically removed. On the other hand, cancer develops from
a malignant tumor. Eventually, it can spread to other organs and tissues in the body after
invading them. When cancer cells have spread to neighboring tissues, even when the
malignant tumor is surgically removed, the disease will typically return.
Mutations in the DNA of cells, brought on by environmental stress, are responsible for
the vast majority of malignancies. There are many different kinds of carcinogens, which
are environmental variables that cause the initial mutation in the DNA.
Some tumors have been linked to specific genes. That is to say, a person's susceptibility
to cancer may be influenced by genetic mutations passed down from his parents. Less
than 10% of malignancies are completely hereditary, despite scientific evidence that both
environmental and genetic variables play a role. Breast cancer, colon cancer, ovarian
cancer, and uterine cancer are all linked to genes. Cancer may be caused not just by genes,
but also by inherited physiological features. One's risk of developing skin cancer is
increased if they have fair skin and spend significant time in direct sunlight.

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