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Patient Education

Hereditary Cancer Syndromes

Capital Health OB/GYN - Langhorne offers screening, counseling and testing to diagnose Hereditary Cancer Syndromes for women with a family or personal history of breast, ovarian, colon and uterine cancers. Certain gene mutations in families can put patients at an increased risk for developing cancer during their lifetime. A simple saliva or blood test can determine whether a patient has these mutations so that proactive steps can be taken to reduce their cancer risk or even prevent certain cancers from developing.

What is BRCA?

BRCA stands for breast cancer susceptibility gene. In fact, there is not just 1, but 2 BRCA genes which have been identified. These genes are typically referred to as BRCA1 and BRCA2.

BRCA1 and BRCA2 belong to a class of genes known as tumor suppressors. In normal cells, BRCA1 and BRCA2 help ensure the stability of the cell’s genetic material by repairing damaged DNA.

Mutations of these genes can lead to errors in DNA repair which may lead to cell death or cancerous transformation (uncontrolled cell growth). Particular BRCA1 and BRCA2 gene mutations have been linked to the development of hereditary breast and ovarian cancer.

Note: Mutations in several other genes (besides BRCA1 and BRCA2) have been associated with hereditary breast and/or ovarian tumors. However, the majority of hereditary breast cancers can be accounted for by inherited mutations in BRCA1 and BRCA2.

How do BRCA1 and BRCA2 gene mutations affect a person's risk of cancer?

Not all gene changes, or mutations, are harmful. Some mutations may be beneficial, whereas others may have no obvious effect (neutral). Harmful mutations can increase a person’s risk of developing a disease, such as cancer.

A woman’s lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2. Such a woman has an increased risk of developing breast and/or ovarian cancer at an early age (before menopause) and often has multiple, close family members who have been diagnosed with these diseases. Certain BRCA1 and BRCA2 mutations may also increase a woman's risk of developing other types of cancers (besides breast and ovarian) during their lifetimes.

The likelihood that a breast and/or ovarian cancer is associated with a harmful mutation in BRCA1 or BRCA2 is highest in families with a history of multiple cases of breast cancer, cases of both breast and ovarian cancer, one or more family members with two primary cancers (original tumors that develop at different sites in the body), or an Ashkenazi Jewish background.

However, not every woman in such families carries a harmful BRCA1 or BRCA2 mutation, and not every cancer in such families is linked to a harmful mutation in one of these genes. Furthermore, not every woman who has a harmful BRCA1 or BRCA2 mutation will develop breast and/or ovarian cancer.

According to estimates of lifetime risk, a woman who has inherited a harmful mutation in BRCA1 or BRCA2 is about five times more likely to develop breast cancer and about 10 times more likely to develop ovarian cancer than a woman who does not have such a mutation.

How is genetic testing performed?

Several methods are available to test for BRCA1 and BRCA2 mutations. Most of these methods look for changes in BRCA1 and BRCA2 DNA. A blood sample is needed for these tests. The blood is drawn in a laboratory, doctor's office, hospital, or clinic and then sent to a laboratory that specializes in the tests. It usually takes several weeks or longer to get the test results.

Genetic counseling is generally recommended before and after a genetic test. This counseling should be performed by a health care professional who is experienced in cancer genetics. Genetic counseling usually involves a risk assessment based on the individual’s personal and family medical history and discussions about the appropriateness of genetic testing, the specific test(s) that might be used and the technical accuracy of the test(s), the medical implications of a positive or a negative test result, the possibility that a test result might not be informative (an ambiguous result), the psychological risks and benefits of genetic test results, and the risk of passing a mutation to children.

Breast Cancer

A woman’s breast consists of glandular tissue, connective tissue, fatty tissue, blood vessels, lymphatic tissue, and nerves. Each breast contains up to 20 sections of glandular tissue called lobes. Each lobe has many smaller sections called lobules, where milk is made. Milk flows from the lobules through thin tubes called ducts to the nipple. The nipple is the small, raised area at the tip of the breast. The areola is the area of darker-colored skin around the nipple. Each breast also contains lymph vessels. These are thin tubes that carry lymph to small, bean-shaped glands called lymph nodes. Lymph nodes are found near the breast, under the arm, and throughout the body. Lymph nodes and lymph vessels are part of the lymphatic system, which helps your body fight disease and infection.

Breast Cancer Basics

Cancer is a disease in which cells become abnormal and form more cells in an uncontrolled way. With breast cancer, the cancer begins in the tissues that make up the breasts. The cancer cells may form a mass called a tumor. (Note: Not all tumors are cancer.) They may also invade nearby tissue and spread to lymph nodes and other parts of the body. The most common types of breast cancer are:

  • Ductal carcinoma – Cancer that begins in the ducts and grows into surrounding tissues. About 8 in 10 breast cancers are this type.
  • Lobular carcinoma – Cancer that begins in lobules and grows into surrounding tissues. About 1 in 10 breast cancers are this type.

Symptoms of Breast Cancer

Thanks to screening, breast cancer often is found before a woman has any physical symptoms. Yet a woman should know how her breasts normally look and feel so that she can report any unusual changes to her doctor. Reasons to call your doctor include:

  • A lump in or near your breast or under your arm
  • Thick or firm tissue in or near your breast or under your arm
  • A change in the size or shape of your breast
  • Nipple discharge (fluid that is not breast milk)
  • Nipple changes, such as a nipple that turns inward (inverted) into the breast
  • Changes to your breast skin, areola, or nipple, such as itching, redness, scaling, dimpling, or puckering

Keep in mind that most breast changes are not cancer. For instance, nipple discharge can be caused by birth control pills, some medicines, and infections. Or, a breast lump could be a cyst, which is a fluid-filled lump that is not cancer. Early breast cancer usually does not cause pain. Still, if you notice a change in your breast or pain, call your doctor and schedule a visit. Don’t wait until your next checkup.

Breast Cancer Screening

Breast cancer screening looks for signs of cancer before a woman has symptoms. Screening can help find breast cancer early, when the chance of successful treatment is best. Two tests are commonly used to screen for breast cancer:

  • Mammogram- A low-dose x-ray exam of the breasts to look for changes that are not normal.
  • Clinical breast exam (CBE)- The doctor looks at and feels the breasts and under the arms for lumps or anything else that seems unusual.

Regular screening is the best way to find breast cancer early in most women. If you are at higher risk of breast cancer, your doctor might want to use other tests too, such as a different type of mammogram or magnetic resonance imaging (MRI).

Cervical Cancer

Cervix Basics

The organs in the female reproductive system include the uterus, ovaries, fallopian tubes, cervix, and vagina. The uterus (the hollow, pear-shaped organ where a fetus grows) has a muscular outer layer called the myometrium and an inner lining called the endometrium. The cervix is the lower, narrow end of the uterus. The cervix leads from the uterus to the vagina (birth canal).

Cervical Cancer Basics

Cervical cancer is a disease in which malignant (cancer) cells form in the cervix. Cervical cancer usually develops slowly over time. Before cancer appears in the cervix, the cells of the cervix go through changes known as dysplasia, in which cells that are not normal begin to appear in the cervical tissue. Later, cancer cells start to grow and can spread more deeply into the cervix and to surrounding areas.

Cervical Cancer Screening (Pap Test)

Screening for cervical cancer using the Pap test has significantly decreased the number of new cases of cervical cancer and the number of deaths due to cervical cancer.

Pap Test (AKA Pap smear): The Pap test involves a procedure in which cells are scraped from the cervix for examination under a microscope. It is used to detect cancer and changes that may lead to cancer. A Pap test can also show conditions, such as infection or inflammation, that are not cancer.

Risk Factors for Cervical Cancer

Human papillomavirus (HPV) infection is a major risk factor for the development of cervical cancer.

Although most women with cervical cancer have the human papillomavirus (HPV) infection, not all women with an HPV infection will develop cervical cancer. Many different types of HPV can affect the cervix and only some of them cause abnormal cells that may become cancer. Some HPV infections go away without treatment. HPV infections are spread mainly through sexual contact. Women who become sexually active at a young age and have many sexual partners are at increased risk for HPV infections.

Other risk factors for cervical cancer include:

  • Smoking cigarettes
  • Giving birth to many children
  • Having many sexual partners
  • Having first sexual intercourse at a young age
  • Long-term oral contraceptive use

Endometrial Cancer

Endometrium Basics

The organs in the female reproductive system include the uterus, ovaries, fallopian tubes, cervix, and vagina. The uterus (the hollow, pear-shaped organ where a fetus grows) has a muscular outer layer called the myometrium and an inner lining called the endometrium. In most nonpregnant women, the uterus is about 3 inches long.

Endometrial Cancer Basics

Endometrial cancer is a disease in which malignant (cancer) cells form in the tissues of the endometrium. Cancer of the endometrium is different from cancer of the muscular tissue of the uterus, which is called uterine sarcoma.

In the United States, endometrial cancer is the most common invasive cancer of the female reproductive system. Endometrial cancer is diagnosed most often in postmenopausal women at an average age of 60 years.

Risk Factors for Endometrial Cancer

Health history and certain medicines can affect the risk of developing endometrial cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. People who think they may be at risk should discuss this with their doctor. Risk factors for endometrial cancer include the following:

  • Taking tamoxifen for treatment or prevention of breast cancer
  • Taking estrogen alone (taking estrogen in combination with progesterone does not appear to increase the risk of endometrial cancer)
  • Being overweight
  • Eating a high-fat diet
  • Never giving birth
  • Beginning menstruation at an early age
  • Reaching menopause at an older age
  • Having the gene for hereditary non-polyposis colon cancer (HNPCC)
  • Being white

Endometrial Cancer Screening

Endometrial cancer usually causes symptoms (such as vaginal bleeding) and is often found at an early stage, when there is a good chance of recovery. There is currently no standard or routine screening test for endometrial cancer.