Delnor’s cancer genetic counseling program is designed
to provide information and cancer risk assessment and/or genetic testing to
individuals and families who have cancer, may be at an increased risk of
developing cancer, and/or have a personal family history of cancer. To
schedule your appointment with Delnor’s board certified genetic counselor, call
central scheduling at (630) 762-6400.
Breast Cancer Gene
In the past few years, scientists have discovered two genes, known as the
BRCA1 and BRCA2 genes (BR=breast, CA=cancer), that place women who carry these
genes at extremely high risk for developing breast and ovarian cancer and, to a
much lesser degree, pancreatic cancer. Genetic testing for these genes was
falsely publicized as the “test” for breast cancer. However, in reality, genetic
testing for BRCA1 and BRCA2 only indicates that an altered (mutated or changed)
cell exists, putting the carrier at a very high risk for cancer development. The
test is only appropriate for a small number of women and men and not the general
public. It is estimated that these mutated genes cause only about 7 to 10
percent of breast cancers.
Mutated Breast Genes Inheritance
Everyone is born with two copies of about 100,000 different genes. One copy
of each gene comes from your mother and the other comes from your father. These
genes are where hereditary breast cancer begins. When a person inherits a
mutated (defective) gene from a parent, this causes them to be at very high risk
to have breast or ovarian cancer in their lifetime. It was once believed that
breast cancer risks came from only the mother’s history. We now know that half
of all women with a hereditary breast or ovarian cancer inherited their risk
from their father, not their mother.
A man or woman can inherit and carry a BRCA1 or BRCA2 mutation without ever
developing cancer. This may cause the disease to skip a generation. It was once
thought that a higher number of relatives with breast cancer was the most
important factor; however, we now know that there are other important variables
to identify a hereditary pattern. Strong clues for hereditary cancer are an
early age of appearance for breast cancer with a high incidence of second breast
cancers and ovarian cancer at any age, often appearing over several generations
in the same bloodline. Family history may also have male breast cancer, prostate
cancer, and pancreatic cancer.
Who is at Greater Risk?
A higher mutation incidence of BRCA1 and BRCA2 gene mutations is found in
Ashkenazi (from eastern and central European descent) Jewish women. It is
estimated that one in forty Jewish women carry a BRCA mutation. Two of these
mutations have been found on BRCA1 and one on BRCA2. Because of knowing the
exact location of the defective genes for this race, a special test call
Multisite 3 BRC Analysis can be ordered. For the general population, over 100
variations of BRCA1 and BRCA2 have been identified that necessitate a more
extensive testing procedure.
Your children are at a 50 percent risk of inheriting the altered gene if you
are a carrier. Fathers may be carriers of the mutated gene and pass it on to
their daughters and sons. Many risk assessment tools only look for cancer on the
mother’s side of the family, overlooking hereditary breast cancer that is
equally inherited from the father’s gene pool.
Statistics
Women who inherit the BRCA1 or BRCA2 gene have a 56 to 87 percent risk of
developing breast cancer by the age of 70. They also have a 27 to 44 percent
chance of developing ovarian cancer. Men who have the gene have an increased
risk for prostate cancer and breast cancer. There is also an increased risk for
both men and women of developing pancreatic cancer. For women who carry the
BRCA1 gene and have breast cancer, there is a 20 percent chance of developing a
second breast cancer within five years of their first cancer. With the BRCA2
gene, she faces a 12 percent chance of a second breast cancer within five years.
Testing for Hereditary Breast Cancer
A blood test can determine whether you are a BRCA1 or BRCA2 gene carrier. The
ideal person to test is the person who has had breast cancer. The need to have a
hereditary risk assessment must first be evaluated by a trained professional
medical team. If your evaluation determines you are a candidate, counselors will
discuss the advantages, disadvantages, and limitations of testing with you. At
this time, you will be given an opportunity to decide if you wish to further
pursue testing. Testing consists simply of having several tablespoons (30 ccs)
of blood drawn from your arm and sent to a laboratory for analysis.
Who Is A Candidate For Genetic Testing?
The criteria for being tested for the BRCA1 or BRCA2 gene is based on your
family history or personal degree of risk.
Testing is now performed for:
Person with breast and/or ovarian cancer who has two
or more first-* or second-degree* blood relatives (on one side of family,
maternal or paternal) with either breast or ovarian cancer.
Person with breast and/or ovarian cancer who has one
first- or second-degree* blood relative younger than 45 (some authorities say
50 years of age or pre-menopausal) with breast cancer and/or ovarian cancer at
any age.
Person with breast and/or ovarian cancer developed
before age 45 (some authorities say 50 years of age or pre-menopausal).
Person with breast and/or ovarian cancer that is
bilateral (both sides) or has multiple primary sites of cancer.
Males who develop breast cancer.
Blood relative (first- or second-degree relative*) who
is documented as being a BRCA1 or BRCA2 gene carrier. *Definition of First-
and Second-Degree Relatives
First-Degree: mother, father, sister, brother,
daughter, son
Cognitively impaired person, unable to give informed
consent
Psychologically impaired according to professional evaluation
Benefits of Testing for Breast or Ovarian Cancer Risks
A test result of positive identifies you as a carrier. Therefore, you would be
carefully monitored to ensure that if you develop the disease it is caught in
the earliest stages when it can be most successfully treated. You would also be
in a position to alter some potentially harmful lifestyle choices. For example,
smoking should be stopped, alcohol intake reduced, exercise on a regular basis,
and eat a healthy diet. If you are a young woman, planning your childbearing at
a younger age minimizes your risk. Physicians are able to plan treatment
protocols to prevent and/or detect other cancers. You would have the option to
enter clinical trials or receive drugs to reduce your chance of the disease.
Other family members may choose to be tested or placed in high-risk surveillance
programs for early detection.
A negative test would relieve your anxiety about being a carrier and prevent
unnecessary and expensive surveillance tests.
To Test or Not Test?
The decision to have genetic testing should be
made in partnership between you and a professional treatment team who:
Evaluate your risks
Determine whether you meet criteria for testing
Offer you professional psychological counseling before
and after the test results
answer all of your questions about the process
provide written information on the test and lab
performing test
obtain informed consent for testing
protect your confidentiality
develop a surveillance/treatment plan after testing
If you receive a negative diagnosis from your test for hereditary breast
cancer for the BRCA1 and BRCA2 gene mutations, your present risk for breast
cancer is based on your family and personal health histories. Most often this
puts most women back to the normal population risk and screening guidelines
recommended by the American Cancer Society. However, some women because of their
family or personal history will be negative for the gene but still be considered
high risk and have increased surveillance for breast cancer recommended. Your
healthcare team will discuss your present estimated risk and make
recommendations for future screening.
Positive Test
Result
If the test results were positive for BRCA1 or BRCA2 gene mutations, your
healthcare provider will discuss opportunities and options to prevent or detect
the cancers early. Authorities in cancer treatment have made recommendations to
reduce the risk of the cancers that include increased surveillance,
chemoprevention, and surgery. A brief options overview will prepare you to
discuss your future care with your healthcare team.
When diagnosed with a
positive mutation in either the BRCA1 or BRCA2 gene, decisions will need to be
made about surveillance, risk reduction, or surgical options. Each option has
advantages and disadvantages to consider. These are not easy decisions. Your
physicians will discuss the above options. Talking with an experienced counselor
will be helpful in evaluating the impact of the options on your individual
lifestyle and personal goals.
Increased
Surveillance
Breast self-exam: monthly starting by age 18 to 21
Clinical breast exam: annual or semi-annual starting
by age 25 to 35
Mammography yearly beginning between the ages of 25
and 35
Consultation with a breast specialist provider when
any change is detected Ovaries: Currently there is no
proven screening test for ovarian cancer, but patients not desiring surgery
may consider the following options:
CA-125 serum tumor marker testing annually or
semiannually beginning at age 25 to 35
Transvaginal ultrasound starting between ages of 25
and 35 every 6 to 12 months
Clinical vaginal examination starting between age of
25 and 35 every 6 to 12 months
Surgery
Bilateral prophylactic mastectomies before age of 40
to reduce risk of breast cancer to the lowest level. (Note: breast cancer can
still occur on the chest wall because only about 90% of the tissue can be
removed from the chest. This also reduces the risk to the lowest level
possible.)
Ovaries
Bilateral prophylactic oophorectomy by age 35, or
after childbearing, to reduce the risk of ovarian cancer. This reduces the
risk of both breast and ovarian cancer. (Note: ovarian cancer can still occur
on the lining of the abdominal cavity from the cells that are left after
surgery. However, this reduces the risk to the lowest possible level.)
Chemoprevention (hormonal therapies)
Breasts
Chemoprevention or
hormonal therapy (SERMs) such as tamoxifen reduces the risk of breast cancer in
high-risk women. The risk reduction in other high-risk groups is about 50%, but
the percent reduction in BRCA mutation is not known.
Ovaries
Oral contraceptives greatly reduce the risk
of ovarian cancer.
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