Genetics: BRCA 1 and BRCA 2 (E0005)


By learning more about your genome, you have
taken a major step preparing yourself for The Genome Era. Here come the disclosures: From 1999 through 2000, I worked for The Sprint
Corporation’s chief lobbyist. Part of my job duties included processing
fundraising for Mrs. Billy Cecile Tauzin’s charity for breast cancer research. Her husband, Louisiana Representative Billy
Tauzin, co-wrote the 1996 Telecommunications Act with my boss. Representative Tauzin’s mother passed away
from breast cancer and the cause was very important to Representative Tauzin and his
wife. In 2006, I had no insurance and discovered
some abnormalities during a routine exam, and received breast cancer screening services
from Planned Parenthood and the Avon Clinic at San Francisco General Hospital. I also beneifited from some of the American
Cancer Society’s services in 2013 and 2014. There has been quite a bit of publicity surrounding
the BRCA 1 and BRCA 2 genetic mutations. What do these genes do? BRCA1 and BRCA2 are separate human genes that
produce tumor suppressor proteins. These proteins help repair damaged DNA and
help ensure a cell’s genetic material’s stability. The BRCA mutations cause DNA damage not be
repaired properly. This causes cells to be more likely to develop
additional genetic alterations that can lead to cancer. The BRCA1 and BRCA2 mutations can increase
the risk of female breast and ovarian cancers. They are also associated with increased risks
of several other types of cancer. People with the BRCA1 and BRCA2 mutations
tend to develop breast and ovarian cancers at younger ages than people who do not. If your parent is a carrier for either one
of the BRCA genes, he or she has a 50 percent chance of passing that mutation to you. How much does each BRCA gene increase your
odds of getting breast cancer by the age of 80? (The normal life expectancy for most women
in advanced nations is between 79 and 96, depending on whether you live in America,
Europe, or East Asia.) Women with neither gene have a 12 percent
chance of developing breast cancer by age 80. Women with the BRCA 1 gene have a 72 percent
chance of developing breast cancer by age 80. Women with the BRCA 2 gene have a 69 percent
chance of developing breast cancer by age 80. Having either BRCA gene also increases your
odds of developing cancer in both breasts if you develop it in one. The BRCA genes are also strongly associated
with ovarian cancer. BRCA 1 increases your odds of developing it
from 1.2 percent to 44 percent, and BRCA 2 increases your odds to 17 percent. You are more likely to carry the gene if you
are of Ashkenazi Jewish descent, or Dutch or Scandinavian descent. Dutch DNA shows up as Great Britain in many
tests, but that is a topic for another video. This sounds very grim. However, many things can affect your chance
of developing breast cancer over the years. Age is an obvious factor. Family history is very important. Your odds are far higher if you are of Eastern
European Jewish descent or if a male family member has had breast cancer. Your medical professional can ask you a series
of questions to determine your risk assessment. Even if you have one of the BRCA genes, you
might actually be at a low risk of developing breast or ovarian cancer. This is best determined by a medical professional. According to the Susan G Komen Foundation,
most women who get breast cancer do not have an inherited gene mutation, and in the United
States, five to ten percent of breast cancers are linked to an inherited gene mutation. Of these, about half of these are linked to
a BRCA1 or BRCA2 gene mutation. On a personal note, I do carry the BRCA 1
gene and had a cousin who passed away from breast cancer. I am of Dutch and Scandinavian descent. Even so, I am considered a low risk for developing
breast cancer for a number of reasons, particularly my age and the fact that no one in my immediate
family has had it. It is important, however, to get annual screenings
for breast cancer since I do have the gene. If you have either of the BRCA genes, cancer
dot gov recommends that you start annual screenings at age 25, rather than the traditional age
of 40. They also recommend this for men who carry
the BRCA gene. One percent of all breast cancer cases occur
in men. Prophylactic surgery has been in the media
recently, particularly with high-profile celebrities like Angelina Jolie and Christina Applegate. Prophylactic surgery is the removal of some
or all of the breast tissue or ovarian tissue in order to prevent the development of breast
or ovarian cancer. It is not always successful at doing so, although
it does show some promising results, reducing the chance of death from ovarian cancer by
80 percent, and the risk of death from breast cancer by 56 percent, or an overall risk of
death by 77 percent, according to cancer dot gov. This is a major procedure and you should discuss
your particular situation with your healthcare professional. Chemoprevention, or the use of medication
like tamoxifen or raloxifene to prevent the development of cancer, has also had a lot
of success in those who have opted for it. There are other genes associated with the
development of breast cancer. These include:
– ATM – CDH1
– CHEK2 – NBN
– NF1 – PALB2
– PTEN – STK11
– TP53 (p53) If a direct-to-consumer genetic test shows
you have a BRCA1 or BRCA2 or other inherited genetic mutations linked to breast cancer,
the Susan G Komen Foundation recommendeds that you have the findings confirmed by genetic
testing done in a clinically-approved lab. You can get this testing through your health
care provider or a genetic counselor. The Susan G Komen Foundation recommends getting
a genetic test if any of the following apply to you:
There is a known BRCA 1 or 2 mutation in your family
You had breast cancer at age 50 or younger A woman in your family had breast cancer at
age 50 or younger A woman in your family had breast cancer in
both breasts A woman in your family had ovarian cancer
A man in your family had breast cancer Your family is of Ashkenazi Jewish descent
and you or someone in your family had breast cancer Your health insurance might cover a genetic
test if you are considered a candidate at risk. Genetic tests are only the first step in determining
risk for breast cancer. Other tests include:
Mammograms Breast Ultrasound
Breast MRI Scans Newer and Experimental Breast Imaging Tests
Breast Biopsy Keep in mind that genetics are not the only
factors that can contribute to breast cancer risk. Other contributing factors include:
– Your ethnicity and genetic ancestry – Epigentic factors – please see the linked
videos for more on epigentics – such as – Tobacco use
– Obesity – And other general lifestyle issues If you do discover something, keep in mind
that there are many resources available to you, including cancer dot org , the Susan
G Komen Foundation and their Avon clinics, and many online and real life support groups. The Human Genome Project has already fueled
the discovery of more than 1,800 disease genes. Today�s researchers can find a gene suspected
of causing an inherited disease in days, rather than the years it took before the genome was
sequenced. What does this mean for the future? There is a new initiative, The Cancer Genome
Atlas – linked below, which aims to identify all the genetic abnormalities seen in 50 major
types of cancer. We will probably see a whole new generation
of targeted interventions, many of which will be drugs that are much more effective and
cause fewer side effects than those available today. You can expect to see individualized analysis
based on your unique genome, which will lead to personalized and preemptive medicine. By tailoring recommendations to each person�s
DNA, your health care team will be able to work with you to focus efforts on the specific
strategies � from diet to high-tech medical surveillance � that are most likely to maintain
your individual health. If you liked this video, please subscribe
and keep checking this channel to learn how to get the most out of your DNA test results. Thank you for watching!

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