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Great Valley OB/GYN Family

Testing for Hereditary Cancer Syndrome Mutations

From the desk of Carol Coldren, M.D.

Genes are responsible for inherited traits such as eye and hair color that are passed on from parents to children. They also affect a person’s risk of developing certain diseases, including cancer. Mutations in the genes play a role in the development of cancer by altering the production of the proteins that control cell growth, division and death. For instance, some mutations cause cell division to accelerate – one of the mechanisms that can lead to the development of cancer. Most mutations are not inherited and are either random events or are triggered by environmental exposures to carcinogens including tobacco and radiation. However, if there is a pattern of disease within a family and/or family members have developed a disease at a younger age than usual, there is a higher likelihood that the disease is related to a genetic mutation. Multiple cancers have now been linked to single gene mutations and testing for some of them are now available.

For instance, those with mutations in the tumor suppressor genes BRCA1 or BRCA2 have a greatly increased risk of breast cancer as well as ovarian cancer for women and prostate cancer for men. Hundreds of different types of mutations have been identified in various genes, some harmful and others seemingly benign or unknown. Only 5%-10% of breast cancers in women have been linked to one of the known inherited gene mutations, so the vast majority of women diagnosed with breast cancer are negative when tested.

Insurance companies will only cover the costs of mutation testing for people that are considered high risk. For BRCA testing in particular the high risk categories include having one or more of the following:
a close relative (parent, sibling, child, grandparent, grandchild, aunt, uncle, niece or nephew) with a known BRCA mutation,
a personal history of breast cancer at age 40 or younger,
bilateral breast cancers at any age,
ovarian, fallopian tube or peritoneal cancer,
a family history of breast cancer in two or more close relatives,
having an Ashkenazi Jewish heritage.

Initial testing is now often performed on the person diagnosed with breast or ovarian cancer. If a BRCA1 or 2 mutation is found, other family members may be eligible for testing. There are three possible results from the testing: no mutation, a mutation linked to cancer (positive or carrier) or a mutation not currently known to increase the risk of cancer (called a variant of uncertain significance). It is important to know that being a carrier of a gene mutation known to increase the risk of cancer does not mean that type of cancer will definitely develop. Likewise, not being a carrier of known risky gene mutations does not guarantee that a certain king of cancer will not develop.

The decision to pursue genetic testing is a very personal one and genetic counseling can be very helpful. It is generally recommended testing be deferred until after age 21. The prospect of learning that one is a carrier of a gene mutation that can cause cancer can be frightening or empowering. Family relationships may be affected. Private family matters such as paternity, adoptions, or other difficult issues may be revealed. In some cases the results may generate the need for additional medical tests or procedures which can cause even more stress and anxiety. It is possible that a positive result may cause difficulty in obtaining medical insurance, or provide a loophole for insurance companies to deny coverage for care based on a mutation being a “pre-existing condition.” Workplace discrimination may be a concern, even though the Genetic Information Nondiscrimination Act (GINA) law makes it illegal for most employers to do this. A negative result can help relieve anxiety generated from thinking that the risk to oneself and one’s children is greater than the risk in the general population but may lead to feelings of guilt if another family member is found to be a carrier. For some people, finding out that they carry a risk increasing mutation is less stressful than not knowing. A positive result can provide the needed incentive to change life style habits known to increase or decrease disease risks. It allows for increased surveillance so disease may be diagnosed earlier. Mutation carriers may decide to take risk reducing medications such as Tamoxifen or prophylactic mastectomy for breast cancer, and/or have their tubes and ovaries removed once child-bearing has been completed.

For most cancers, mutations linked to increased risk have not yet been identified. For others, genetic tests are not yet available even though specific mutations are known to increase risk. Continued research in the field will no doubt increase the understanding of our genetic make-up and allow genetic testing to play an ever larger role in cancer risk assessment, detection, and individualized treatment available in the future.

This article is provided as informational and is not intended to be a substitute for individualized professional medical advice.

First Gyn Examinations for Teens

From the desk of Deborah Bieter-Schultz, D.O

As female gynecologists and nurse practitioners (nps), we know you will probably never look forward to coming to our office, especially for your very first visit. However, the right time may be now! Experts in the field of Ob/Gyn recommend that young women have their first routine appointment between the ages of 13 and 15. If you are putting this off as long as possible, the latest you should schedule your first appointment is at age 21. Knowing what to expect can help overcome some of the normal anxiety you may be feeling about seeing a gynecologist. Be assured that you will be in control of what happens at your visits. If you are worried about having a pelvic exam, you may not need that part of the exam at your first or even your first several visits. You may decide that just meeting the doctor or np for a get to know one another visit is enough to start. Even if you are experiencing something out of the ordinary such as infrequent or prolonged periods or severe cramps, you may have the option of having an ultrasound instead of a pelvic exam.

One of the main goals of your first visit is to find someone with whom to comfortably discuss private matters as they arise in the future. Your visits are great opportunities for you to ask any potentially embarrassing questions you may have about your body (or anything else), so come prepared if you do have questions. At a typical appointment, your health care provider will want to discuss your general medical history as well as specifics about your menstrual cycle and how it affects your life. We will ask questions about your past sexual experiences, if any, and about any short term future plans you may have for having sex. For you to get the best possible care, it will be important for you to speak openly about these sensitive issues.

We will make every effort to speak to you privately unless you want your parent or guardian to be present. Confidentiality and trust are very important elements in the relationship you are establishing. If you are under 18 years old, you should know that your parents have the legal right to request a copy of your written medical records. However, we will not have any conversations about you without your knowledge and permission, and we will inform you before we provide records to anyone. You will have the option of having us keep certain information completely private.

The routine exam at a gynecologist’s office usually involves a check of the thyroid gland in your neck, a breast exam, an abdominal exam and a pelvic exam. We will help you learn how to do a breast exam on yourself. For the breast, and abdominal exam, we will have you lie flat on your back. We will then have you bend your knees and place your feet in foot supports called stirrups for the pelvic exam.

Your doctor or np will first examine your external genitalia visually. A “speculum exam” will then be done if needed. Speculums are devices that allow your healthcare provider to look inside the vagina. They come in sizes small enough to use comfortably even on young children, and allow testing for certain infections. Once you are 21, a brief screening test for cervical cancer (a pap smear) will be done at least every 3-5 years as part of the speculum exam. The rest of the pelvic exam is called an internal or bimanual exam. This involves the doctor placing her gloved finger in the vagina and feeling your internal reproductive organs (the uterus, cervix and ovaries) between that finger and the other hand that is placed on the outside of your lower abdomen. You will feel some pressure during the exam, but the whole exam will take only a few moments and, unless you are already in pain, it need not be painful.

Ideally you will have your first appointment before you have your first sexual encounter. We want to help you protect yourself against sexually transmitted infections that might otherwise make it difficult for you to have children of your own some day, and we want to help you prevent pregnancy until you make a conscious decision to get pregnant.

Be proactive and optimize your reproductive health. We think there is no better way to do that than to start a trusting relationship with your gynecologist or gyn nurse practitioner.

The doctors and nurse practitioners at Great Valley Ob/Gyn in Exton and Paoli have the expertise needed to provide comprehensive gynecological and obstetrical services for teens and women of all ages. Please call our office or visit our website to request an appointment.

This article is provided as informational and is not intended to be a substitute for individualized professional medical advice.

Breast Cancer Awareness and Prevention

from the desk of Carol Coldren, M.D.

Breast cancer is one of the most anxiety provoking topics for many women. In the United States, it continues to be the most frequently diagnosed cancer, and the second highest cause of cancer death for women. Over 200,000 new cases were diagnosed last year (and 2000 in men). There are many genetic, environmental and lifestyle factors that contribute to an individual’s risk – and surely more will be discovered. Some of the biggest known risk factors are things that cannot be changed – being female, getting older, getting one’s first period at an early age, going through menopause at a late age and having a family history of the disease. Other known risk factors include having dense breast tissue (more fibrous and glandular tissue and less fatty tissue in the breast). Exposures to radiation (including diagnostic studies like mammograms, chest x-rays and CT scans as well as therapeutic radiation like that used to treat lymphoma) have been shown to increase the risk for women with a genetic pre-disposition. However, the effect of radiation on women who are not genetic carriers is less clear. Long-term hormone replacement therapy is also a known risk – though for many women the benefits of at least short term use outweigh the risks. In addition, for unclear reasons, breast cancer has been found to be more common in tall women compared to those of us who are vertically challenged.

So, what are the modifiable risk factors? Factors known to be associated with a decreased risk of breast cancer include having children before the age of 30, and breast-feeding. Women who do not have children have the same risk as women who have their first child at age 35. There may be a modest increased risk for current smokers – data as to the risk of second-hand smoke has been inconclusive with some studies showing an increased risk and others showing no increased risk. There is a known dose related increased risk with alcohol ingestion. Night shift work is a risk factor, as is weight gain after menopause (especially 20 lbs or more). Regular physical activity may provide modest protection. High consumption of fruits and vegetables may decrease risk slightly, while the influence of dietary fat and red meat remains unclear.

Studies have conclusively ruled out an increased risk of breast cancer from breast trauma, use of antiperspirants and underwire bras, miscarriage or abortion, caffeine, breast implants, hair dyes, exposure to electromagnetic fields (like electric blanket use) and some known carcinogens including PCBs and DDT (which are factors in other kinds of cancer but not breast cancer).

How can your risk be determined? There are several risk assessment tools in use today – the most well-known by the general public is called the Gail model. Family history involving breast cancer susceptibility genes like BRCA1 and 2 has only been found to be a factor in 5-10% of all breast cancers. The biggest family history risk is having two or more 1st degree relatives (parents and siblings) with breast cancer, especially if they have been diagnosed at an early age. Genetic counseling is available to help you decide whether or not to have genetic testing done. There are clear guidelines established for testing but the tests can be costly and may not be covered by your insurance.

How can your risk be managed? Early detection remains the best defense against breast cancer. Mammograms are still the best screening tool for most patients. They can detect most breast cancers long before they are large enough to feel on exam. The newest technology (3D or Tomosynthesis) is finding more cancers than digital 2D mammograms. Women who get screening mammograms have been shown to have mortality rates from breast cancer that are 30% lower than those who do not. Women at high risk may be candidates for additional screening with MRI, and have the option of taking medications that can significantly reduce the risk of breast cancer (such as Tamoxifen, Evista and Aromasin). Others may opt for more frequent clinical exams, alternating every 6 months between a breast surgeon specialist and their gynecologist. Some decide to have prophylactic mastectomy.

The good news is that in the U.S., where breast cancer rates rose significantly between 1980 and 2000, the incidence rates have stabilized and the mortality rates have declined by about 30% when compared to rates in 1990. The 1 in 12 lifetime risk of breast cancer for women who live to age 90 is still higher than everyone would like, but remember, most women – even in the highest risk groups – will not get breast cancer. Do what you can to reduce your risk by eating well-balanced meals, staying active, and getting plenty of sleep, and get clinical exams and screening tests that are appropriate for your risk factors.

This article is provided as informational and is not intended to be a substitute for individualized professional medical advice.

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