BRCA 1 and 2 stand for breast cancer susceptibility genes type 1 and 2. A mutation in these genes makes the affected individual more susceptible to developing breast or ovarian cancer over the course of their life. In women with these mutations the life time risk of developing breast cancer is 50-85% and ovarian cancer is 15-40%. The gene is transmitted in an autosomal dominant fashion. This means that the child of an affected person has a 50% chance of having this gene.
These genes are responsible for the majority of hereditary breast and ovarian cancer syndromes (HBOC). There are other hereditary cancer syndromes that are due to mutations in other genes. However, it is important to understand that inherited genetic mutations are responsible for less than 10% of breast and <15% of ovarian cancers.
You should be concerned about a possible hereditary genetic mutation if there is a family history of many women (and even men) with breast cancer, especially 1st degree relatives. You should be equally concerned if there is a family history of ovarian cancer as well as colon, endometrial, pancreatic and prostate cancers. The likelihood of a hereditary genetic mutation is also increased if the cancers are diagnosed in younger women.
If you are concerned about the possibility of a familial predisposition to any cancer, you should discuss these concerns with your physician. Genetic testing is available to identify the presence of certain mutations. This should only be done after in depth counseling since there are many consequences to discovering that you are a carrier.
In women who carry these genetic mutations, many options are available to manage the risks. Breast and ovarian cancer surveillance can be undertaken. Risk reduction surgeries are available. Medications options for chemoprevention have been used as well. The decision to utilize one method over the other is dependent on a number of factors which should be discussed with an experienced health care provider.
Monthly self-breast examination is highly encouraged and a clinical breast examination by a physician is also recommended. Breast screening options also include the initiation of mammography at an earlier age and more frequently. Breast imaging can include alternating magnetic resonance imaging with mammography to increase the likelihood of early detection. A combination of pelvic imaging and testing for blood cancer markers at regular intervals are options for ovarian cancer surveillance. These techniques should start at least 5-10 years earlier than the age of the youngest affected relatives or by age 25 for breast cancer surveillance and age 35 for the ovarian cancer surveillance.
Risk reduction surgeries can be done as well. Prophylactic bilateral total mastectomy decreases the risk of breast cancer by 90%. Removal of the ovaries and tubes by age 35-40 significantly reduces the risk of both ovarian and breast cancer.
Chemoprevention is also an option. Tamoxifen, Raloxifene and aromatase inhibitors are options to decrease the risk of breast cancer. Oral contraceptive pills or birth control pills are thought to reduce the risk of ovarian cancer by 50%. Current contraceptive pill dose do not appear to increase the risk of breast cancer so should be considered in women who want to retain their reproductive abilities.
A strong family history of breast, ovarian and other cancers is a sign of a possible hereditary genetic mutation. It is important to recognize this and seek consultation to understand your personal risk. Even though this is a scary thought, remember knowledge is power. If you have this mutation, there are a number of options for decreasing the chance of developing cancer. In addition this information is vital to the health of other family members, including your children.
Here are sites that can provide more information:
https://www.cancer.gov/cancertopics/factsheet/Risk/BRCA National Cancer Institute
https://ww5.komen.org/BreastCancer/GeneMutationsampGeneticTesting.html Susan G. Komen
I hope this article has provided you with information that will help you make wise choices, so you may:
Live healthy, live well and live long!
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