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The Breast Cancer Gene The Breast Cancer Gene
by Kimberly Allen, RN Ever since Angelina Jolie announced that she had been told she carries one of the “faulty” genes that cause breast... The Breast Cancer Gene

by Kimberly Allen, RN

Ever since Angelina Jolie announced that she had been told she carries one of the “faulty” genes that cause breast cancer and that because of the discovery she made a very personal and difficult choice to take preventive measures by having a double mastectomy, questions are being asked about the “faulty” genes and how to get tested.

Chemical structure of a large domain of the BRCA2 (breast cancer susceptibility gene 2) tumor suppressor protein in complex with DSS1. BRCA2 is a tumor suppressor gene and the corresponding protein is normally involved in chromosomal damage repair.

Chemical structure of a large domain of the BRCA2 (breast cancer susceptibility gene 2) tumor suppressor protein in complex with DSS1. BRCA2 is a tumor suppressor gene and the corresponding protein is normally involved in chromosomal damage repair.

Experts estimate that between 5% and 10% of all breast cancers are hereditary which means they are caused by faulty genes inherited from a parent.  So what are genes?  Genes are the part of the cells in your chromosomes that are made of DNA.  It is the DNA that holds the instructions for building the proteins that determine the function as well as structure of all the cells in our bodies.  A simple way to look at it is that our genes are the “instruction manual for cell growth and function” in our bodies.  In most cases we develop a faulty gene over a lifetime.  Dr’s state that it takes many mistakes in a cells genetic code or DNA before it becomes a cancerous cell.  Mistakes in the DNA are like a typographical error which alters the pattern which in turn alters the instructions for that particular cells growth and development.  Then once the altered gene has formed the same abnormality will develop in all the cells that have that gene.  It usually takes several decades for your cells to accumulate enough genetic errors before becoming cancerous because most of them either die off or are killed by our immune system.  This in one of the reasons cancer tends to be more commonly diagnosed in middle age to older adults.  However, it is also possible to be born with a gene that already has an abnormal DNA code.  Being born with an abnormal gene doesn’t guarantee you’ll develop cancer but it does significantly increase your risk.

The first genes discovered to be faulty associated with breast cancer are the BRCA1 and the BRCA2.  As much as 90% of breast cancers caused by genetic defects are caused by one of these two genes.  We are all born with BRCA1 and BRCA2 genes, the are responsible for repairing any cell damage and maintain the normal cell growth of breast tissue.  However, once these genes develop alterations also known as mutations they are then passed on from parent to child from one generation to the next.  As the mutation affects how the cell functions your risk of developing breast cancer increases.  Experts have also found other genes that also increase the risk of breast cancer significantly.  they are known as the TP53 and PTEN genes.  Though they have found others there there are only tests for these four.

So who should be tested?  These tests are expensive and in most cases will not be covered by insurance until 2014 so not everyone needs to be tested.  Remember, most breast cancers are not caused by inheriting a faulty gene.  But if you have blood relatives from either your mother or fathers family that were diagnosed with breast cancer before 50 years of age, or if someone in your family has both breast and ovarian cancer then there’s and increased chance you may carry a faulty  gene.  Other things that increase your risk include having a family history of other gland related cancers like colon, pancreatic, or thyroid cancer as well as women of Eastern European Jewish descent.  Also, males that have a family history of other males being diagnosed with breast cancer tend to have an abnormal gene.  It’s also important to remember just because one person in the family has a faulty gene that doesn’t mean everyone else in the family does.  If you feel you fall into any of these categories you should discuss your options with your doctor.  You’ll need a complete family history when you talk with your doctor.  Check with your insurance company to see if they cover the cost of the test.  More insurance companies are covering the cost for people considered high risk.  However, if your insurance company doesn’t, there are still options available to you.  There are several organizations  that will help you cover the cost of testing including the company that does the testing Myriad Genetics.

breast cancerMastectomy and reconstruction

Every year over 290,000 women in America are diagnosed with breast cancer and face some serious and very personal choices.  Today there is not only much more known about breast cancer but many more options available for women, and men, diagnosed with breast cancer.  In addition to  new types of treatments there are also improved techniques in reconstructive surgery.

In the past when a woman was diagnosed with breast cancer, she faced debilitating chemotherapy and radiation treatments – as well as in most cases, a radical mastectomy which left many women not only physically deformed but emotionally devastated.  Today, radical mastectomies are rarely performed.  Surgical techniques have improved significantly and now women have a choice.  There are now 4 types of mastectomy surgery available that are commonly used used in addition to the radical mastectomy.  Most women that have been diagnosed with invasive breast cancer will be encouraged to get a modified radical mastectomy.  The main reason is because in addition to the entire breast being removedthe surgeon also removes certain axillary lymph nodes which will be examined to determine if the cancer has spread beyond the breast.  The difference betwen the modified radical mastectomy and a radical mastectomy is that no muscle tissue from the chest wall is removed in a modified radical mastectomy.  Radical mastectomy’s are only recommended if the cancer has spread to the muscle tissue under the breast.  In a “total” or “simple” mastectomy the surgeon removes the entire breast, however, it does not involve dissection or removal of any axillary lymph nodes.  This type of mastectomy is good for women that have been diagnosed with either one large area or multiple areas of ductal carcinoma in situ as well as for those considering mastectomy as a prophylactic measure.  There is also the skin-sparing mastectomy which involves removing all of the breast tissue including the nipple and areola, however, the skin over the breast tissue is kept intact.  Almost all patients that have this type of mastectomy have breast reconstructive surgery immediatley  after the mastectomy. Immediate as in while still under anesthesia from the mastectomy.  The surgeries will be coordinated so that the reconstructive surgeon is already there in the operating room with your oncology surgeon ready to begin as soon as the breast has been removed.  This type of mastectomy is not recommended for women with large tumors.  There is also the nipple sparing mastectomy which means only the breast tissie is removed.  The nipple and areola as well as the skin and the chest muscles are kept intact.  Breast reconstructive surgery begins immediately as with the skin-sparing mastectomy.  Your surgeon may also do a sentinel node biopsy which involves the removal of one or two nodes to be tested for cancer.  If no cancer is found then no other nodes will be removed. However, if cancer is found then the rest of the nodes in your armpit will have to be removed.breast cancer lymphs

No matter what type of surgery you choose, as well as whether or not you opt to have reconstructive surgery immediately following your mastectomy, the proceedures are invasive, involved and performed under general anesthesia.  And there is almost always a hospital stay required.  Frequently there are small plastic tubes sutured in place to be sure any fluids that may accumulate after surgery drain effectively.  There are also bandages that will need to be changed regularly as well as the risks that all invasive surgeries carry including the potential for infection.

With the improvement in reconstructive surgery techniques many women are choosing reconstructive surgery over prothesis because it gives them a sinse of normalcy.  Their breasts appear more balanced and natural when wearing a bra or swim-suit and they are able to retain their breast shape.  It improves their self esteem and body image as well.  There are a variety of options available to you that you should discuss with your doctor in order to determine what is best for your specific needs.  Immediate reconstructive surgery has it’s benefits but it may not be best for your particular case.  In some cases, your doctor may recommend delayed reconstructive surgery.  This is especially true for women that will require radiation therapy after their mastectomy as radiation therapy can cause problems when given after breast reconstructive surgery.  Your docto

r will want to consider several factors including your overall health and the stage your cancer is in as well as whether or not you want reconstructive surgery on both breasts.  Other things that need to be considered are the type of reconstructive procedure you are considering as well as the size of your natural breast and the amount of tissue available for reconstruction.

There are a variety of reconstruction techniques available today and though it’s good to discuss the available options with your healthcare team it is also good to do your own research so that you know whats available.  It’s also helpful if you know someone that has had breast reconstructive surgery to discuss the decision process with her and whether or not she is satisfied with the results.

Though there are a variety of techniques that can be used to reconstruct the breast there are two main procedures used.  One is to insert an implant that is filled with either saline, which is salt water, or silicone gel or even a combination of both.  The other is to use tissue from another area of your bosy like your abdomen, back or thigh.  This is known as autologous reconstruction.  You may also have the option as to whether or not you want to reconstruct your nipples.  Whether or not you have been diagnosed with breast cancer or have asignificant risk of developing breast cancer choosing whether or not to have a mastectomy with or without reconstructive surgery is a deeply personal decision.  And while breast reconstructive surgery restores the shape of your breast it does not restore the sensation to your breast or nipple.

Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at