Jewish Genetic Disorders:
A Layman's Guide: Guide to genetic disorders affecting  the Jewish population more than the non-Jewish. Includes basic facts on genetics & genetic disorders.

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Breast and Ovarian Cancer
by Yael Rosenberg, RN

   • Genetics and Heredity
   • Risk Facotors for Breast Cancer
   • Lifetime Risk of Getting Breast Cancer
   • Predisposition to Cancer – Women at Risk
   • Predisposition to Cancer – Men at Risk
   • Symptoms of Breast Cancer
   • Cancer Statistics
   • Prevention – A Way of Life
   • Testing and Screening for Breast Cancer
   • The Metropolitan New York Registry of Breast Cancer Families
   • Diagnosis of Breast Cancer
   • Treatment of Breast Cancer
   • http://www.abreast.org

Genetics and Heredity
Ashkenazi Jewish women have been found to possess genetic markers for both breast and ovarian cancers at a high frequency rate, precipitating a call for genetic testing for all breast and ovarian cancer victims.

Between 5%-10% of breast cancer cases are hereditary, meaning it is due to a gene change passed through the family. The breast cancer itself is not hereditary, but an increased predisposition can be, in individuals carrying either of two genes on chromosomes 17 (BRCA1) and 13 (BRCA2). It is an autosomal dominant condition. This means that it is not a sex chromosome, and it does not require both parents contributing the gene for it to predispose the child to the disease. In general, the greater the number of affected relatives and the closer the biologic relationship, the greater the risk.

A woman with a gene change has a 60%-85% lifetime chance of developing breast cancer, and a 15%-60% lifetime chance of developing ovarian cancer, depending on the gene.

It is estimated that one out of every 50 Ashkenazic Jews carries a mutant copy of either BRCA1 or BRCA2. Although other types of mutations in BRCA1 and BRCA2 do exist in the general population, the two specific mutations associated with Ashkenazic Jews have not been found in the non-Jewish population.

Most startling is that women who inherit mutant forms of BRCA1 may have up to an 85% risk of contracting breast cancer and a 44% risk of contracting ovarian cancer in their lifetimes. This compares with an overall 12% risk of breast cancer and 1% risk of ovarian cancer in the general population.

Known Risk Factors for Breast Cancer
   • Personal history of a prior breast cancer
   • BRCA1/BRCA2 mutations - specific genetic change or mutation that increases susceptibility to breast cancer
   • Mother, sister, daughter, or two or more close relatives, such as cousins, with a history of breast cancer (especially if diagnosed at a young age)
   • A diagnosis of a breast condition (i.e., atypical hyperplasia) that may predispose a woman to breast cancer
   • A history of two or more breast biopsies for benign breast disease
   • Women who receive chest irradiation for conditions such as Hodgkin's disease at age 30 or younger, remain at higher risk for breast cancer throughout their lives.

Lifetime Risk
The following illustrates women's lifetime risk of getting breast cancer.
Source: National Cancer Institute
   • By Age 30 - one in 2,525
   • By Age 40 - one in 217
   • By Age 50 - one in 50
   • By Age 60 - one in 24
   • By Age 70 - one in 14
   • By Age 80 - one in 10

Predisposition to Breast and Ovarian Cancer-Women at Risk
Does every woman with an altered breast cancer gene get cancer? - A woman with a BRCA1 or BRCA2 alteration is more likely to develop breast or ovarian cancer than is a woman without an alteration. However, not every woman who has an altered BRCA1 or BRCA2 gene will get breast or ovarian cancer, because genes are not the only factor that effect cancer risk. Therefore, an altered gene is not sufficient to cause cancer.

Most cases of breast cancer do not involve an altered BRCA1 or BRCA2 gene. At most, one in 10 breast cancer cases involves an inherited altered gene, and not all inherited breast cancer involves BRCA1 or BRCA2.

Predisposition to Breast Cancer – Men at Risk
Do men with an altered BRCA1 or BRCA2 gene have an increased cancer risk? - Although breast cancer is rare even in men with an altered gene, men with an altered BRCA2 gene have higher rates of breast cancer than men without an altered gene.

Men with an altered BRCA1 or BRCA2 gene may also have a slightly increased risk of prostate cancer.

Important Note: Even if a man never develops cancer, he can pass the altered gene to his sons and daughters.

Symptoms of Breast Cancer
Cancerous Lumps
   • A distinct, stony, hard lump that feels like a hardened pea or bean in your breast
   • Immobile mass that does not move freely in the breast
   • Lump anchored in surrounding tissues; tissues move when you move the lump
   • Lumps are non-painful 90 percent of the time
   • Usually occurs as only one lump in one breast. Very rarely will breast cancer appear as several lumps

Inverted nipple
   • A nipple that inverts in a previously normal breast.

Areola
   • Color of the circle around the nipple changes.

Skin changes
   • A rash on one breast, redness, a bump or sore
   • Skin that looks like an orange peel
   • Skin dimpling - pulling of the skin
   • Bulging of the skin - a swelling of one area of the breast that changes the shape of the breast.

Vein changes
   • An increase in the size or number of veins on one side of the chest

Breast pain
   • All recurring breast pain needs evaluation to determine cause.
   • Most breast pain is not associated with cancer, rather it is caused by monthly female hormones produced by the body. However, breast pain may be caused by cancer, and therefore a recurring pain should be evaluated by a physician.

Breast discharge
   • Though it may be due to hormonal imbalances, a response to medication, it may also be caused cancer and should be evaluated.

Cancer Victims – National Statistics
Breast cancer ranks just behind lung cancer as the leading cause of cancer death for women. Breast cancer is the leading cause of cancer death among women in 15-34 and 35-54 age groups and the second cause of cancer death for women aged 55-74.

Prevention – A Way of Life
If you are at increased risk for breast or ovarian cancer, you can make choices that may help reduce your risk of getting cancer or enable early detection. These steps are beneficial for all women, regardless of whether they have tested for a BRCA1 or BRCA2 alteration.

Increased surveillance and close monitoring for signs of cancer
   • Frequent mammograms
     Please note: Mammography should be done annually after the age of 40 (recommended by most physicians) or as an adjunctive method when there is a suspicious lump.
     Please note: Excessive mammograms should be avoided in patients with a strong family history of breast cancer because such patients may harbor genes that increase their susceptibility to radiation-induced damage.
   • Physician performed breast exam
   • Breast self examination
     Please note: Breast self examination should be done monthly. Studies have shown that the survival rate almost doubles for women who practice BSE (Breast Self Exam).
   • Ovarian ultrasound.

Prophylactic surgery
A radical though sometimes recommended procedure is the removal of healthy breasts and/or ovaries. This surgery has been shown to reduce the risk of cancer, however, doctors do not know by what percentage the risk is lowered. Additionally, since not all of the breast and ovarian tissue can be removed, some women who had their breasts and ovaries removed, later developed cancer of the remaining tissue.

Practice preventative measures – Commit to a Healthy Lifestyle

Engage in practices that have been shown to reduce the risk of cancer, which include
   • Regular exercise
   • Avoidance of smoking
   • Limit alcohol consumption to no more than two alcoholic drinks per week (this increases your liver's ability to regulate blood estrogen levels).
   • Limit consumption of red meat and other sources of animal fat (this includes dairy fat in cheese, milk, and ice cream), because they may contain stored hormones or pesticides.
   • Try to stick to a relatively vegetarian diet.
   • Attempt to shed extra weight and try hard to keep those pounds off.

Genetic Testing for Breast and Ovarian Cancers
Genetic testing is a process that searches for genetic alterations that may be associated with an increased risk of particular cancers. Genetic testing may reveal whether the cancer risk in a family is passed through their genes.

Although the lab test itself is quite complex, only a blood sample is needed. Genetic testing for breast and ovarian cancer risk involves looking for altered genes such as BRCA1 and BRCA2.

Genetic Testing is available at the following:
Cancer Genetics Program
Call Toll Free 1-800-454-8256
Visit the Cancer Genetic Program’s web site at http://www.pitt.edu/~tawst14/Genetics

The Metropolitan New York Registry of Breast Cancer Families
The Metropolitan New York Registry of Breast Cancer Families, which enrolls families that have several members stricken with breast and/or ovarian cancer, is a resource for future studies. Qualified researchers will be able to use the resources of the Registry for research on genetic and environmental factors in cancer.

The Registry will include members of families with a history of breast and ovarian cancer.

Families with the following health histories will be encouraged to participate:
   • Two or more relatives with breast or ovarian cancer
   • One or more relatives with early age at diagnosis
   • A relative with both breast and ovarian cancer, or bilateral breast cancer
   • A male relative with breast cancer

        Contact the Metropolitan New York Registry
        Telephone: 212-263-5964
                or
        Fax: 212-263-8570
        Web Site: http://www.med.nyu.edu/Biostat-Epi/mnyr.htm

Collaborating National & International Institutions:
   • New York Univerisy Medical Center
        Department of Environmental Medicine
        341 East 25th Street, Room 209; New York, NY 10010
   • Memorial Sloan Kettering Cancer Center
        Cancer Information Service - call 1-800-4CANCER
   • Beth Israel Medical Center
   • Columbia-Presbyterian Medical Center
        Women at Risk Program – Call 212-586-9525
   • Mt. Sinai Medical Center
   • SUNY-Stonybrook Medical Center
   • Fox Chase Cancer Center, Philadelphia
   • Northern California Cancer Center, San Francisco
   • Huntsman Cancer Institutes, Salt Lake City, Utah
   • Ontario Cancer Treatment & Research Foundation,Toronto, Canada
   • University of Melbourne, Australia

Diagnosis of Breast Cancer
The earlier breast cancer is found and diagnosed, the better your chances of beating it. Breast Self-Exam is important for you to do, in addition to regular mammography.

When lump is found, a needle aspiration biopsy is performed. The biopsy is taken from a tumor and evaluated under microscope to determine whether it is benign (non-cancerous) or malignant.

The good news is that 80 percent of all suspicious areas found and biopsies performed reveal a benign (non-cancerous) change.

Treatment of Breast Cancer
Hormonal Therapy - Tamoxifen
When you take tamoxifen, it passes into your bloodstream, joining all kinds of hormones, nutrients, oxygen, and other molecules, and circulates through the tissues of your body. If breast cancer cells are present, tamoxifen flows around them as well. If these cancer cells have estrogen receptors (about two-thirds do), tamoxifen slips into the receptor "locks," filling up a space that would normally be taken by the body's natural estrogen.

Five Benefits of Tamoxifen:
   • Tamoxifen can prevent recurrence
   • Tamoxifen can halt the progression of metastatic breast cancer
   • Tamoxifen can reduce your risk of cancer in the other breast
   • Tamoxifen can help prevent osteoporosis
   • Tamoxifen can lower cholesterol levels

Tamoxifen’s Potentially serious side effects
   • Blood clots (thrombosis)
   • Endometrial cancer
   • Other uterine effects

Read more about Tamoxifen and hormonal therapy at http://www.ibreast.org

Other Methods of Treatment
   • surgery - removing the cancer in an operation
   • radiation therapy - using high-dose x-rays that kill cancer cells
   • chemotherapy - using drugs to kill cancer cells
   • hormone therapy - using drugs that change the way hormones work, or removing organs that produce hormones, such as the ovaries
   • biological therapy - using the body's immune system to fight cancer, such as bone marrow transplantation or peripheral blood stem cell transplantation.

 

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