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Genetic Screening for Cancer Risk

Jump to Genetic Screening
for Colorectal Cancer

Genetic Screening for Breast or Ovarian Cancer

Breast cancer. These two words can cause fear when you first hear them. Research has shown that approximately 7 percent of breast cancers and 10 percent of ovarian cancers are inherited from our parents.

At Martin Memorial, we understand the anxiety that a diagnosis of breast or ovarian cancer can cause a family. Therefore, we offer genetic education, counseling and testing that provides valuable information to you and your family members about your risk of having an inherited cancer.

Knowing your cancer risk may help you and your doctor make informed decisions for the prevention and early detection of breast or ovarian cancer.

After reading this Web page and evaluating your personal risk, contact the Genetics Program at the Robert and Carol Weissman Cancer Center if you have any concerns about a risk of inheriting cancer.

Understanding Hereditary Risk
Overall, American women have a one-in-eight chance of developing breast cancer and a one-in-55 chance of developing ovarian cancer during their lifetime. For some women, however, the risk is much higher. Women at increased risk of breast and ovarian cancer generally belong to families in which other members of the family have had these diseases. In some families, cancer is caused by a gene mutation that is passed down from mothers or fathers to their children. These genes, named BRCA1 and BRCA2, normally work to prevent cancer, but if a mutation occurs, these genes no longer function properly and cancer can occur.

The Testing Decision
Confidential genetic testing for susceptibility to breast and ovarian cancer is not for everyone. It is not like a mammogram or other screening test intended for the general population, but rather is intended for individuals thought to be at high risk for breast or ovarian cancer because of their family history, or because they themselves developed breast cancer at an early age. The questionnaire included in this pamphlet is about personal and family characteristics associated with the risk of hereditary breast and ovarian cancer.

Before deciding to have genetic testing, it is important for an individual to fully discuss testing and its possible implications with a qualified health professional. Every individual who decides to be tested is asked to sign an informed consent form, which is an agreement between the individual and the doctor showing that they have discussed the test and its possible implications for the individual and his or her family.

For many people, knowing their test result is important, because this information may help to guide health care decisions for themselves and their families. Before deciding to be tested, however, it is important for individuals to think about how they and their families might deal with the issues raised by knowing their test results. If you are thinking about genetic testing, ask your doctor or other qualified professional for more information.

If you are considering genetic testing, please keep these important considerations in mind:

  • By age 70, the majority of women with a BRCA1 or BRCA2 mutation will develop breast cancer. Women with a BRCA1 or BRCA2 mutation also have an increased risk of developing ovarian cancer.
  • Breast cancers that are caused by BRCA1 or BRCA2 mutations are most often diagnosed before a woman reaches age 50.
  • Certain mutations of BRCA1 and BRCA2 genes are especially common among Ashkenazi Jews, whose ancestors come from central or eastern Europe. (Most American Jews are of Ashkenazi descent.)
  • Although breast cancer is rare in men, a man may carry a BRCA1 or BRCA2 mutation, which can be passed on to his children. For example, a man who has a mother or sister with a known BRCA1 or BRCA2 mutation may also have inherited the mutation. If he did, each of his children has a 50 percent chance of inheriting the same mutation and risk of cancer.




Family History Questionnaire for
Breast and Ovarian Cancer

Fill out this questionnaire to determine if you might be a candidate for genetic testing. Place an "X" in the boxes below for yourself and for each family member who has had cancer.

______________________________
Patient Name

______________________________
Physician

______________________________
Date Completed (update annually)



Breast Cancer Before Age 50 Ovarian Cancer at Any Age
Yourself

Mother

Sister(s)

Daughter(s)

Mother's Side
Grandmother

Aunt(s)

Cousin(s)

Father's Side
Grandmother

Aunt(s)

Cousin(s)

Any male relative with breast cancer at any age

You may want to ask your physician or other health care professional for more information about assessing your cancer risk if you have:

  • Two or more X's in the above table, OR
  • One X in the above table and you are of Ashkenazi Jewish decent, OR
  • Any male relatives with breast cancer at any age

Our genetics nurse educator is available for an initial evaluation and can be reached at (772) 223-5945 ext. 1669.




Genetic Screening for Colorectal Cancer

Understanding the Hereditary Risk
Just as we inherit physical traits such as hair or eye color, we may also inherit the tendency to develop some cancers. Hereditary Nonpolyposis Colorectal Cancer (HNPCC) is an inherited condition that occurs when a damaged gene is passed from parent to child. In people with HNPCC there is a mutation in either the MLH1 or MSH2 gene. This mutation allows colon polyps to develop that are often benign, or noncancerous, but in HNPCC can quickly become malignant, or cancerous.

Approximately 150,000 cases of colorectal cancer are diagnosed each year. While only five percent of those cases are related to HNPCC, people who carry a HNPCC gene mutation have a much greater risk of developing colorectal cancer. People who carry the HNPCC gene mutation also have a greater risk of having other cancers, such as endometrial cancer.

At Martin Memorial, we understand the importance of early identification of anyone who may be at greater risk for the development of cancer. Through genetic education, counseling and testing, we can provide valuable information to you and your family members about your risk of having an inherited cancer.

Knowing your cancer risk may help you and your doctor make informed decisions for the prevention and early detection of colon cancer. After reading this pamphlet and evaluating your personal risk, contact our center if you have any concerns about a risk of inheriting cancer.

The Testing Decision
Confidential genetic testing for susceptibility to colorectal cancer is not for everyone. It is not meant for the general population, but rather for those people who may be at high risk because they have been diagnosed with colorectal cancer at an early age or have family members who were diagnosed with colorectal cancer at an early age (before age 50). It may also be done for those relatives of patients with MLH1 or MSH2 gene mutations.

An informed consent must be signed before testing. This is an agreement between the person who requests the test and the physician to show that they have discussed the test and the possible implications. A simple blood test called Colaris can determine if a person carries the gene mutation, and many health insurance plans pay for the test. Test results and recommendations are discussed confidentially with a physician.

Before the test, it is important for people to think about the implications and how they will deal with the issues raised by the test results. If you are considering genetic testing, you should discuss this with your doctor or other qualified professional.

Who’s at Risk?
You may be at risk if you have any one of the following:

  • Colorectal cancer (CRC) and a first-degree relative with CRC or an HNPCC–related cancer (endometrial, ovarian, gastric, kidney/urinary tract, biliary tract, brain or small bowel cancer), one of which was diagnosed before age 50
  • Colorectal adenoma before age 40
  • Two HNPCC–related cancers (endometrial, ovarian, gastric, kidney/urinary tract, biliary tract, brain or small bowel cancer)
  • A relative with confirmed MLH1 or MSH2 gene mutations
  • Colon or endometrial cancer diagnosed before age 50
  • Two first-degree relatives with colon or endometrial cancer at any age
  • Two or more tumors in the same individual (two colon cancers or colon and endometrial cancer)


Family History Questionnaire for
Colon and Endometrial Cancer

Fill out this questionnaire to determine if you might be a candidate for genetic testing. Place an "X" in the boxes below for yourself and for each family member who has had cancer.

______________________________
Patient Name

______________________________
Physician

______________________________
Date Completed (update annually)



Colon Cancer Before Age 50 Colon Cancer After Age 50 Endo- metrial Cancer Before Age 50 Endo- metrial Cancer After Age 50
Yourself



Mother



Father



Sisters(s)



Daughter(s)



Brother(s)



Son(s)



Mother's Side
Grand- mother



Grand- father



Aunt(s)



Uncle(s)



Cousin(s)



Father's Side
Grand- mother



Grand- father



Aunt(s)



Uncle(s)



Cousin(s)



You may want to ask your physician or other health care professional for more information about assessing your cancer risk if you have:

  • Colon or endometrial cancer diagnosed before age 50, OR
  • Two immediate relatives with colon or endometrial cancer at any age, OR
  • Two or more cancers in the same person (two colon cancers or colon and endometrial cancer).

Our genetics nurse educator is available for an initial evaluation and can be reached at (772) 223-5945 ext. 1669.



Contact Us

Robert and Carol Weissman Cancer Center
Genetic Screening
501 E. Osceola St.
Stuart, FL 34994
(772) 223-5945, ext. 1669