BRCA Gene Mutation, Prophylactic Mastectomy & Breast Reconstruction

By: Dr. Steven Pisano

Blogs
November 09, 2012

Earlier this week celebrity Sharon Osbourne announced that she was having bilateral (double) mastectomies to prevent cancer because there is a hereditary pattern of breast cancer in her family. This announcement brings the concept of hereditary forms of breast cancer into the public domain, and offers an opportunity to educate men and women about genetic testing and treatment options.

Specifically, BRCA1 and BRCA2 are human genes that are part of a class of genes known as tumor suppressors. A harmful mutation of either of these genes confers a markedly increased chance of developing breast and/or ovarian cancer over a woman’s lifetime (of note, men also carry the BRCA genes, and a harmful mutation in one of them increases the risk of breast, prostate, and possibly other cancers). It is estimated that about 12% of women in the general population will develop breast cancer at some point in their lives; among women with a BRCA1 or BRCA2 mutation 60% will develop breast cancer. It is important to appreciate that most women who develop breast cancer do not carry a BRCA mutation. In the majority of cases breast cancer is said to be “sporadic”. Breast (and/or ovarian) cancer is most likely associated with a BRCA mutation in families with a history of multiple cases of breast cancer, combinations of breast and ovarian cancer, or cases in which a family member has had more than one type of cancer. Women with these family history cancer patterns should consider genetic counseling and possibly genetic testing.

For the woman who carries a BRCA mutation there are a number of options, including: surveillance, prophylactic surgery, and risk reduction with certain medications. The core service at PRMA is breast reconstruction. An increasing number of women who undergo reconstruction with us are women with a BRCA1 or BRCA2 mutation. The surgical approach involves bilateral mastectomies – with or without sparing the nipple-areola tissue – followed by immediate reconstruction. The goal of the mastectomies is to remove as much of the at risk breast tissue as possible without compromising the short and long term quality of the native breast skin; removing absolutely all breast tissue is difficult if not impossible, and therefore, mastectomies are not a guarantee that a BRCA carrier will not develop breast cancer.

For women who elect to have mastectomies implant-based or tissue-based breast reconstruction is available. Implant reconstruction can be either a single stage or two stage procedure; in the two stage method a short-term tissue expander is placed before the final implant. Implant reconstruction can also be accompanied by placement of additional material called acellular dermal matrix, a protein substance that provides additional coverage over the implant besides the native breast skin. There are many tissue-based (autologous) breast reconstruction options. In our practice at PRMA the DIEP flap is the most commonly chosen method of autologous tissue breast reconstruction – and the most commonly performed method of breast reconstruction overall.

With a well-executed mastectomy and reconstruction – especially an autologous reconstruction – the BRCA patient can have a very positive outcome, in which breast cancer risk is greatly reduced, and the size, shape and consistency of the breasts approaches normal.

Learn More About Prophylactic Surgery

2 Comments

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  • PRMA

    I have been diagnosed with a radial scar and have a positive PALB2 gene mutation. I have 2 sisters that have been diagnosed with breast cancer. The first sister was a triple negative and received the TRAM with the DIEP Flap reconstruction with PRMA. She was diagnosed at 48 (it’s been 10 years). The second sister was diagnosed at age 52. She tested positive to the 2 hormone receptors estrogen and progesterone. Based on my family history and genetic test results it has been recommend that I have prophylactic mastectomies. I would like to schedule an appointment to hear about my options. Do I need a referral from my PCP? What are the necessary steps to start the process? I live in San Angelo, Texas.

    Reply
  • PRMA

    Hello Holly! Thanks for reaching out to PRMA! We would be more than happy to set you up a consult to discuss your options for prophylactic surgery. Please give our office a call at 210-692-1181 and one of our office staff can find a time that works best for you.

    Reply
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