BRCA1/BRCA2 Testing and the Preventive Double Mastectomy
There has been a lot of information in the news about the link between breast cancer and the BRCA1 and BRCA2 genes, and women like Angelina Jolie opting to have a preventive double mastectomy - surgery to remove both breasts without a cancer diagnosis. But what are these genes? How do you know if you are at risk? All of this information can seem confusing, and the surgeries extreme. Here are the facts, and what you should do to find out if you are at risk.
Dr. Lisa Cassileth is a partner in the fight against breast cancer, offering BRCA testing to identify mutations in the BRCA1 and BRCA2 genes, and works in tandem with surgeons performing preventive mastectomies as a pioneer in one-stage breast reconstruction.
What are the BRCA1 & BRCA2 genes?
A huge breakthrough was made in the early 1990's in the detection and prevention of cancer with the discovery of the BRCA1 ("breast cancer 1", pronounced "brak-uh") and BRCA2 genes.
Everyone has two BRCA1 genes and two BRCA2 genes, but when there are mutations in these genes, there is a staggering increase in the risk of cancer development for breast cancer and ovarian cancer.
Both of the BRCA genes are passed down in families in an "autosomal dominant pattern" – meaning you only need to get the abnormal gene from one parent to inherit that disease. These genes aren't only passed down from women to women, but can be inherited from the mother or the father's side of the family. Thus both men and women can inherit mutated BRCA1 and BRCA2 genes, and pass them on to their children.
The BRCA1 and BRCA2 genes belong to a category of genes called tumor suppressors, and usually control cell growth. According to the National Cancer Institute any mutation or alteration of the BRCA1 or BRCA2 gene greatly increases the risk for various types of cancer, jumping from an average 12% risk of a woman developing breast cancer in her life, to a 60% risk (www.cancer.gov).
I have a BRCA mutation and traveled to LA (from San Francisco where I live) to have preventative, nipple sparing mastectomies and immediate 1-step reconstruction with silicone implants with Dr. Cassileth. I did a ton of research in order to locate a plastic surgeon who could reconstruct my breasts so that they didn't basically look like coconuts on my chest - which is how many reconstructed breasts look! I spoke with countless women, attended a FORCE conference, and considered doctors as far away as New York. When I saw Dr. Cassileth's work, spoke with many of her very satisfied patients, and met with her, I knew I had found the right doctor. Dr. Cassileth's work is quite natural looking; my breasts have a gentle slope like natural breasts would, yet they are larger and perkier than my original ones!"
Here are the statistical increases in risk of different cancers with mutations in the BRCA1 and BRCA2 genes, excerpted from cancer.stanford.edu:
- Average 65 percent lifetime risk for breast cancer
- 40 percent to 60 percent lifetime risk for second breast cancer (not reappearance of first tumor)
- Average 39 percent lifetime risk for ovarian cancer
- Increased risk for other cancer types, such as prostate cancer
- Average 45 percent lifetime risk for breast cancer (in females)
- 6 percent lifetime risk for breast cancer (in males)
- Average 11 percent lifetime risk for ovarian cancer
- increased risk for other cancer types, such as pancreatic, prostate, laryngeal, stomach cancer, and melanoma
How do I find out if I carry a mutation in the BRCA1 or BRCA2 genes?
Dr. Lisa Cassileth believes that prevention is your strongest protection in the fight against breast cancer, and offers screenings for mutations in the BRCA1 and BRCA2 genes through a swab taken from the mouth.
The discovery of these genes, and preventative procedures to greatly decrease the risk of cancer has saved countless lives. Every woman should be screened for these mutations, especially if there is any history of breast cancer in your family, on both your mother and father's side.
We strongly suggest and welcome you to visit our office in Los Angeles and be tested for mutations in the BRCA1 and BRCA2 genes. The BRCA testing will take about half an hour and may be one of the smartest decisions you ever make.
To see if you are a candidate for BRCA testing please take the Hereditary Cancer Quiz below:
The Preventive Double Mastectomy with Cassileth One-Stage Breast Reconstruction
When a mutation in the BRCA1 or BRCA2 gene is found, a big decision must be made. Sometimes genetic counseling will be recommended, which will be performed by a cancer genetics specialist. Genetic counseling involves assessing risks based on family history, in order to decide the best treatment plan for those with a mutation in the BRCA1 or BRCA2 gene.
Although cancer has not been diagnosed, as you can see from the statistics above there is a huge risk of development of breast cancer in the future. While a preventive double mastectomy may seem like a very severe measure to take, it is becoming more and more common, and most patients are surprised at how the process can be more empowering than frightening.
In Angelina Jolie's case, her risk of developing breast cancer has dropped from 87% to under 5% after receiving her preventive double mastectomy. We applaud and support her brave choice, as we do our own patients who have made the same decision.
As a pioneer in the fight against breast cancer, Dr. Lisa Cassileth has developed a way to minimize the impact of a mastectomy by providing full breast reconstruction, along with the cancer tissue removal, all in one procedure.
"It's exciting and rewarding to provide a new choice for breast cancer patients who are undergoing mastectomy. Reconstructing the breasts at the same time eliminates the risks of multiple surgeries and, more importantly, helps minimize the sense of loss."
— Dr. Lisa B. Cassileth, Board Certified Plastic Surgeon
With more women than ever choosing to undergo mastectomy for the treatment or prevention of breast cancer, the desire for a better type of reconstruction has grown. Dr. Cassileth's innovative technique allows women to awaken from mastectomy surgery with intact breasts, and minimal or no scarring.
Dr. Cassileth performs over 200 breast reconstruction cases per year. This includes nipple reconstruction, reconstruction implant revisions, and fat grafting. More than half of those 200 cases are breast reconstruction done at the time of the mastectomy, right here in Los Angeles, CA.
Thank you for making this difficult decision so bearable. Your sincerity, credentials, great personality, office staff - the whole package - I feel so fortunate to have worked with you & the rest of the team. Thank you thank you for getting me through this & for doing such a beautiful job."
Melissa Etheridge Jolie Comments Unfounded:
Four Things Every Woman Should Know About Breast Cancer
Breast reconstruction specialist Dr. Lisa Cassileth knows what breast cancer can mean to a woman and her family. She has called Melissa Etheridge’s comments on the matter “unfounded” and seeks to warn others to make their own choices before cancer makes those choices for them.
“My belief is that cancer comes from inside you and so much of it has to do with the environment of your body. It's the stress that will turn that gene on or not. Plenty of people have the gene mutation and everything but it never comes to cancer so I would say to anybody faced with that, that choice is way down the line on the spectrum of what you can do and to really consider the advancements we've made in things like nutrition and stress levels." – Melissa Etheridge
Yesterday, I was meeting with one of my patients who had been diagnosed with breast cancer. There she is in front of me. She is so unbelievably healthy—she is someone that when she whips out lunch you go “eeew what is that?” (It is mixed vegetables with vinegar on it, I mean wonderfully healthy food.) She is a stay at home Mom. All she does is take care of her boys, she is not a stressed out person, and she just has a wonderfully healthy approach to life.
Read the rest of this article on Dr. Cassileth's blog by clicking here. »
Your First Step
Please, don't hesitate in protecting yourself against breast cancer. Call the office of Dr. Lisa Cassileth today at 888.465.5106 to set up your screening for BRCA1 and BRCA2 mutations.