Is A Bilateral Mastectomy Right For You?
By: Holly L. Thacker, MD Posted on May 19, 2013
How Is Breast Cancer 'Inherited'?
So nearly everyone has heard about Ms. Angelina Jolie and her recent announcement that she underwent bilateral mastectomy (removal of the breasts) and breast reconstruction because she learned she is at very high lifetime risk for breast cancer due to inheriting the BRACA1 mutation. BRACA1 and BRACA2 are autosomal dominant genes, which means someone has a 50/50 chance of inherited one of these mutations if one of your biological parents has that mutation. And these mutations have high penetrance and can occur via either the mother's or the father's side.
BRACA1 increases risk of breast cancer in women while BRACA2 increases risk for breast cancer in both women and men. Both BRACA mutations increase the risk for deadly, hard to diagnose, (with no good screening tests) ovarian cancer. Ms Jolie will likely, wisely plan to undergo bilateral risk reducing oophorectomy (removal of both ovaries), which reduces the risk not only of ovarian cancer, but also of breast cancer. Other cancers are associated with these mutations, such as:
- Pancreatic cancer (BRACA2)
- Gastric (BRACA1)
The Other Cancers That You Should Know About
While prophylactic risk reducing bilateral mastectomy in a famous actress garners much attention, it is important to note there is a more common hereditary cancer syndrome that you and your family should also know about. That cancer is Lynch syndrome (LS). LS is caused by gene mutations in the multistep mismatch repair system with mutations noted in several different genes located on five different chromosomes. Women carrying LS mutations are at increased risk for colorectal cancer, uterine cancer and ovarian cancers. Women with LS related ovarian cancers are usually well differentiated and less advanced stage compared to BRACA mutation associated ovarian
cancers. Other cancers that can affect LS men and women include cancers of the:
- Small bowel
- Biliary tract
- Sebaceous tumors of the skin
We have good screenings for colorectal cancer-CRC (colonoscopy) and we can evaluate and treat uterine cancer with a pelvic ultrasound, office endometrial biopsy and hysterectomy. It is unfortunate that many young women with either CRC and/or uterine cancer are not identified as candidates to be tested for Lynch syndrome as these latter 2 cancers-colon and uterus- just don’t generate the same buzz, attention, anxiety, awareness, and questions as do breast and ovarian cancers.
Another hereditary cancer syndrome (HCS) that involves the breast and gynecologic cancers is: Cowden syndrome. It is also inherited autosomal dominant and is characterized by the formation of multiple hamartomas in any organ and an increased risk for cancer. Germline mutations in PTEN are found in 85 percent of those with Cowden syndrome as well as in other rare and unrelated conditions such as Bannayan-Riley-Ruvalcaba syndrome. Cowden syndrome is associated with increased risk for non medullary thyroid cancer and renal/kidney cancer. Women with Cowden syndrome have:
- A higher risk of benign breast tumors.
- A 25-50 percent risk of breast cancer in their lifetime.
- A 5-10 percent lifetime risk of endometrial/uterine cancer.
- Increased risk for developing benign uterine fibroids.
Li-Fraumeni syndrome is a rare cancer syndrome that accounts for one percent of hereditary breast cancer and the mutation is also transmitted in an autosomal dominant fashion. Early onset breast cancer, brain tumors, leukemias and soft tissue sarcomas cancer can occur along with ovary, pancreas, lung, melanoma and Wilms tumors. Other genetic syndromes that can be associated with breast and gynecologic cancers include:
Are All Cancers Genetic?
What is important to know is that most female cancers are NOT genetic. However, some are genetic. And NOT all cancers that are genetic are limited to just the breast and ovary! The completion of the Human Genome Project, the one thing we can all agree our government did right, has been revolutionary. We will continue to see less costly, more widely available genetic testing panels for HCS and other serious medical conditions. Rather than rush to your doctor’s office to ask to ‘get tested for that gene mutation that Angelina has,’ it is critical to KNOW YOUR FAMILY medical history. Any family member with any early onset cancer should raise concern. Do not just focus on the breast!
There are many other gastrointestinal cancers that deserve attention, including:
Genetic counseling has been shown to empower individuals (from movie stars to the gal next door) to make informed decisions about important medical decisions that can affect their lives and the lives of their loved ones.
Be Strong. Be Healthy. Be in Charge!
-Holly L. Thacker, MD
Holly L. Thacker, MD, FACP is nationally known for her leadership in women’s health. She is the founder of the Cleveland Clinic Women’s Health Fellowship and is currently the Professor and Director of the Center for Specialized Women’s Health at Cleveland Clinic and Lerner College of Medicine at Case Western Reserve University. Her special interests are menopause and related medical problems including osteoporosis, hormone therapy, breast cancer risk assessment, menstrual disorders, female sexual dysfunction and interdisciplinary women’s health. Dr. Thacker is the Executive Director of Speaking of Women’s Health and the author of The Cleveland Clinic Guide to Menopause.