BRCA 1 & 2 Gene Testing: What Does A Positive Test Mean And Should You Get Tested?

The BRCA 1 and 2 gene mutations, and a handful of other (rarer) gene mutations, account for about 10% of all breast cancer cases. The abnormal genes affect about 1 in 400 people and can be inherited from either or both parents.

BRCA gene mutations increase the lifetime risk of breast cancer in women to between 50 and 87% (depending on the study). The lifetime risk of breast cancer in the general population is about 12%.

Due to the publicity BRCA has received in the media lately, most people think it only affects women. That's not true. Men can be affected too. Men carrying an abnormal BRCA gene have a 5-10% risk of getting breast cancer at some point in their lives. Unaffected men only have a 0.1% lifetime risk.

Families carrying the abnormal genes also have more than breast cancer to worry about. BRCA mutations significantly increase the risk of several other types of cancer in the family including ovarian, fallopian tube, peritoneal, pancreatic, colon, prostate and melanoma.

Anyone who has a strong family history of breast cancer should consider having a BRCA test. Those who are also of Ashkenazi Jewish descent are at particularly high risk of being affected; Ashkenazi Jews have a much higher prevalence of the BRCA1 and 2 mutations than the general population (1 in 40).

It's also important to consider the implications of a positive test before actually having it. What would you do if you found out you're affected? How would it affect your kids? The rest of your family? Would you consider having prophylactic (preventive) mastectomy?

I strongly recommend genetic counseling before having any genetic test. Only then can you truly understand the implications of the test and what a positive result could mean for you and your family.

I hope this info helps.

Dr C

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Dr C is a board certified plastic surgeon and microsurgeon specializing in state-of-the-art breast reconstruction. He and his partners at PRMA are In-Network for most US insurance plans. Patients are welcomed from across and outside the US. Please call (800) 692-5565 or email patientadvocate@PRMAplasticsurgery.com to learn more about your breast reconstruction options. Connect with others touched by breast cancer in our Facebook community.

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Are you a BRCA Patient Interested in Prophylactic Mastectomy & DIEP Flap Breast Reconstruction?

Angelina Jolie's decision to have prophylactic mastectomies and immediate breast reconstruction earlier this year has prompted women across the country to look into their hereditary breast cancer risk.

We're kicking off Breast Cancer Awareness month on Wednesday, October 2nd with a live tweet event about this very topic.

One of our BRCA+ patients has kindly agreed for our staff to tweet during her surgery - bilateral prophylactic mastectomies and immediate DIEP flap breast reconstruction.

Please join us live in the OR to learn more about these procedures!

You can learn more about the Live Tweet Event here.

Dr C

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Dr C is a board certified plastic surgeon and microsurgeon specializing in state-of-the-art breast reconstruction. He and his partners at PRMA are In-Network for most US insurance plans. Patients are welcomed from across and outside the US. Please call (800) 692-5565 or email patientadvocate@PRMAplasticsurgery.com to learn more about your breast reconstruction options.

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Prophylactic Mastectomy - is it right for you?

Having prophylactic mastectomy is a very personal choice. There is no "right answer", only what you consider is best for you.

Women who are at high risk of developing breast cancer have the option of prophylactic (preventive) mastectomy as a way of decreasing their risk. Factors that increase a woman’s chance of developing breast cancer include:

1. a genetic predisposition to breast cancer e.g. BRCA+, Cowden's Syndrome, Li-Fraumeni Syndrome
2. a strong family history of breast cancer
3. a breast cancer diagnosis at a young age
4. abnormal breast cells on biopsy that increase the risk of breast cancer, e.g. LCIS
5. a history of previous chest radiation, e.g. treatment for Hodgkin's Lymphoma

Prophylactic mastectomy decreases the risk of future breast cancer by 97-99%. Since the breast tissue is removed, the surgery also removes the need for regular screening mammograms/MRIs and preventive drugs like tamoxifen.

Surgery is not the only option however. Many women prefer close monitoring and preventive drugs (known as "chemoprophylaxis").

Regardless of other choices, all women should modify their diet wherever possible to decrease their risk. It is vital you discuss all your options and the pros, cons, and risks of each before making the best decision for you.

If you choose prophylactic surgery please remember that you can also have breast reconstruction at the same time as mastectomy. There is no need to experience having a flat chest unless you specifically decide you wish to remain without breasts.

You have several reconstructive options and the results can be very natural and cosmetic. If you choose to undergo breast reconstruction at the same time, a "skin-sparing" mastectomy is usually performed. This saves all the breast skin envelope which significantly adds to the cosmetic results without increasing your risk of cancer. In many cases, the nipple-areola can be saved too. This is known as a "nipple-sparing" mastectomy.

Thankfully, most insurance plans cover the cost of prophylactic mastectomy and reconstruction in high risk patients but you will have to check with your individual plan to make 100% sure.

I hope this info helps.

Dr C

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PRMA Plastic Surgery specializes in state-of-the-art breast reconstruction including DIEP flap, SIEA flap, GAP flap, TUG flap, Alloderm One-Step and fat grafting. We are In-Network for most US insurance plans and routinely welcome patients from across the USA. Please call (800) 692-5565 or email patientadvocate@PRMAplasticsurgery.com to learn more about your breast reconstruction options. Connect with other breast cancer patients at facebook.com/PRMAplasticsurgery.

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Nipple Delay Surgery

Angelina Jolie recently shared her BRCA+ diagnosis and brave decision to undergo prophylactic nipple-sparing mastectomy and immediate breast reconstruction. As part of her surgery, she underwent a nipple delay procedure.

So what is a "nipple delay"?

Most patients do not need a delay procedure. It's actually performed quite rarely. It can however be a good option for patients who want nipple-sparing mastectomy but are at high risk for nipple necrosis. High risk patients include smokers, patients with moderate to significant breast ptosis (sagging), and patients with a history of previous breast surgery (eg breast reduction or lift).

Nipple delay is usually performed 7-21 days before the nipple-sparing mastectomy. The nipple-areolar complex and a rim of surrounding breast skin is elevated off the underlying breast gland. This disconnects all the ducts connecting the breast tissue to the nipple and also cuts off the blood supply to the nipple and areola from the underlying breast tissue. At this point, the nipple-areolar complex is only kept alive by the blood supply from the surrounding skin.

Over the next 1 - 3 weeks, this remaining blood supply becomes much more robust and the blood flow to the nipple-areola from the surrounding skin increases. This improved blood supply makes the subsequent nipple-sparing mastectomy safer and decreases the risk of nipple-areolar necrosis (tissue death) and wound healing complications.

The procedure is combined with a subareolar biopsy to ensure there are no cancer cells involving the nipple-areolar complex. If the subareolar biopsy reveals malignancy, the nipple and areoala are removed at the time of mastectomy. Sentinel lymph node biopsy is also usually performed at the same time as the nipple delay procedure if it is indicated.

Nipple delay does not decrease the risk of future breast cancer. As long as the subareolar biopsy is negative, the risk of future breast cancer is very low and is the same as with standard nipple-sparing mastectomy.

Nipple delay is usually covered by insurance if it is medically justified and the mastectomy is covered.

I hope this info helps.

Dr C

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PRMA Plastic Surgery specializes in advanced breast reconstruction including DIEP flap, SIEA flap, GAP flap, TUG flap, Alloderm One-Step and fat grafting. We are In-Network for most US insurance plans and routinely welcome patients from across the USA. Please call (800) 692-5565 or email patientadvocate@PRMAplasticsurgery.com to learn more about your breast reconstruction options. Connect with other breast cancer patients at facebook.com/PRMAplasticsurgery.

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Nipple-Sparing Mastectomy

Nipple-sparing mastectomy in conjunction with immediate breast reconstruction is becoming more and more popular so I thought a blog post about it was in order...

What is a nipple-sparing mastectomy?

A nipple-sparing mastectomy preserves the nipple,  areola and all the surrounding breast skin which is then used for the breast reconstruction. Unlike the traditional "modified radical mastectomy", nipple-sparing mastectomy only removes the breast tissue ("parenchyma") under the skin.

What are the benefits?

Studies show that nipple-sparing mastectomy provides the same level of surgical treatment as a modified radical mastectomy in appropriate candidates. Preserving the nipple-areola complex adds to the quality of the reconstruction making the results even more "natural". It also means the patient avoids having to go through the additional steps of nipple reconstruction and tattooing.

Who is a candidate?

Nipple-sparing mastectomy is an option for many patients with a small cancer located several centimeters away from the nipple-areola complex. Patients with ductal carcinoma in situ (DCIS) can also be candidates, again depending on the location and distance from the nipple-areola.

During the surgery, a biopsy ("frozen section") is taken from behind the nipple-areola complex and sent to pathology to make sure there is no cancer under the nipple or areola. If this biopsy is negative then the area can be preserved. If it is positive for cancer cells, the nipple and areola are obviously removed.

Patients at high risk of breast cancer (eg BRCA+, strong family history, Cowden's syndrome) choosing to undergo prophylactic (preventive) mastectomy and immediate breast reconstruction are the best candidates.

Patients who do not need a signficant breast lift will have the best cosmetic results.

What are the risks?

Nipple sensation is usually significantly reduced. Sometimes feeling is lost completely. Even in cases where some nipple-areola sensation is maintained, it is very unlikely the feeling will be as Mother Nature provided.

The underside of the nipple and areola is "shaved down" to remove as much of the breast tissue as possible. This can sometimes compromise the blood supply to the tissue which can then cause healing problems. If the blood supply is damaged too much by the mastectomy, part or all of the nipple-areola can die. Thankfully this is uncommon.

At PRMA we check the blood flow intra-operatively to ensure the nipple-areola will survive. In the unlikely event that the nipple-areola cannot be saved, it is removed to prevent wound healing complications and a new nipple and areola are reconstructed at a later time.

Where will the scars be?

This depends on the size and shape of the breast, whether a small "lift" is needed, patient preference and surgeon preference. Scars can be placed around part of the areola and extended outwards or downwards, or completely away from the areola at the breast crease ("inframmamary fold incision").


I hope this info helps!

Dr C

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Dr Chrysopoulo specializes in advanced breast reconstruction including DIEP flap, SIEA flap, GAP flap, TUG flap, Alloderm One-Step and fat grafting. He is in-Network for most US insurance plans. Patients are routinely welcomed from across the USA. Please call (800) 692-5565 or email patientadvocate@PRMAplasticsurgery.com to learn more about your breast reconstruction options. Connect with other breast cancer patients at facebook.com/PRMAplasticsurgery.

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One-Step Breast Reconstruction with Implants and Alloderm

Implant breast reconstruction is the most common method of breast reconstruction currently performed in the US. There are two main approaches: the "Alloderm one-step" (also referred to as "single stage" or "direct to implant" reconstruction), and the two-stage reconstruction with tissue expanders. To easier explain the ins-and-outs of the one-step procedure, I first need to summarize the more traditional two-stage approach...

Tissue expanders essentially act as "spacers". They can either be placed at the same time as the mastectomy or some time later. They are inflated with saline injections to recreate the desired breast size. This expansion process can take several weeks depending on the amount of expansion required to reach the optimal cup size. Once the expansion process is completed, the tissue expanders are removed and the final implants are placed. Reconstruction with breast implants is therefore usually performed as a multiple-step process and can take several months.

Alloderm One-Step / Single Stage / Direct to Implant Reconstruction

Some patients are candidates for a "One-Step" procedure whereby the permanent implant is inserted at the time of the mastectomy. A cadaveric implant known as Alloderm is also used to provide extra implant coverage and support. By going direct to the final implant in a single stage, the patient has only one procedure and avoids the use of a tissue expander (and the whole expansion process) altogether. The scar can also be placed in the inframammary fold (at the breast crease) which makes it much easier to hide. The One-Step procedure is also referred to as "direct to implant" or "single stage" reconstruction.

This procedure is obviously very appealing to many women, including those that may not be candidates for perforator flaps. The down time in terms of recovery is also much shorter than most of the alternatives (2-4 weeks).

There are some caveats though.... I used to offer this procedure to most patients. Some One-Step surgeons still do. Personally, I don't anymore - "the perfect candidate" for the procedure has evolved in my eyes. Experience (and grey hair) has a tendency of doing that.

So who is the "ideal candidate"?

1) Patients that do not have a current breast cancer diagnosis

2) Patients that are having prophylactic mastectomy only, e.g. for BRCA1 or BRCA2

3) Patients that are having nipple-sparing mastectomy

4) Patients that do not need a significant breast lift

5) Patients that have not had previous breast/chest radiation


By limiting the procedure to women who fulfill these strict criteria the surgical results are far more predictable and very cosmetic. The risk of further revision or "touch up" procedures is also very low.

PRMA patient Mrs Michelle Coben kindly shares her experience with the One-Step procedure in the video below. You can also see before and after pictures here.

I hope this info helps.

Dr C

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Dr Chrysopoulo specializes in advanced breast reconstruction techniques including perforator flaps, Alloderm One-Step and fat grafting. He is In-Network for most US insurance plans. Patients are routinely welcomed from across the USA. Please call (800) 692-5565 or email patientadvocate@PRMAplasticsurgery.com to learn more about your breast reconstruction options. Connect with other breast cancer patients at facebook.com/PRMAplasticsurgery.

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Breast Cancer Gene Testing Less Likely Among Blacks

NEW YORK (Reuters Health) - African American women are generally less likely than white women to pursue genetic testing for BRCA1 or BRCA2, the gene mutations associated with an increased risk of break cancer, researchers report. However, African American women with a recent diagnosis of breast cancer are much more likely to do so, according to the article in the Journal of Clinical Oncology.

"Everybody deserves consideration for testing if their clinical and family history situation warrant it," Dr. James P. Evans, from the University of North Carolina at Chapel Hill, told Reuters Health. "Regardless of race, one has to approach genetic testing as an important option and explain the pros and cons to the patient."

Evans and associates examined race and the timing of breast cancer diagnosis and the frequency of BRCA1/2 genetic testing among women attending the UNC Cancer Genetics Service.

Among 768 women diagnosed with breast cancer who were offered BRCA1/2 testing, the rates of testing among African American and white patients did not differ, authors report.

Overall, African American women were 46 percent less likely than white women to undergo BRCA1/2 genetic testing, the author report.

Women who were diagnosed recently had a higher odds of pursuing testing than did women diagnosed more than 1 year before genetic evaluation, the investigators say, but this difference was statistically significant only for African American women, who were almost three-times as likely to undergo genetic testing.

Why a recent breast cancer diagnosis increases the use of BRCA1/2 genetic testing so "dramatically" among African American "could contribute to a better understanding of racial disparities in genetic testing and medicine," the authors conclude.
"We continue to aggressively try to find avenues for women who need testing but can't afford it, Evans said."One of the most interesting (and distressing) features of our study in my mind is that almost half of the patients who could benefit from testing can't get it...either because they had no insurance or their insurance was inadequate. Only through our special program were we able to provide it for all those patients."

Maximizing the use of BRCA1/2 testing requires "good genetic counseling and a personalized attentive approach on the side of the medical team," Evans advised. "We try to take a lot of time to explain the nuances to women and why testing can be of help to them and their families. I think this is especially important with African American patients where there is traditionally a lower level of trust in the medical profession (understandably)."

SOURCE: Journal of Clinical Oncology, January 1, 2008; breastcancer.org

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