High Risk BRCA Genetic Testing and Surgical Options

Patients with a diagnosis of Hereditary Breast or Ovarian Cancer face a unique set of challenges.  These challenges begin with an understanding of their own family history and genetic make-up.  As breast reconstructive surgeons, we play a role in helping these patients make decisions that will significantly impact their health and well-being

There are several genetic mutations that place patients at increased lifetime risk for the development of breast cancer.  Many of us have followed Angelina Jolie and her decision to have bilateral prophylactic mastectomy and reconstruction.

Ms. Jolie is a BRCA1 mutation carrier.  Although the BRCA mutations are among the better understood genetic markers for increased breast cancer risk.  There are others that carry this same risk to varying degrees.  These include the CHEK2 and PALB2 mutations among others.

Patients with a significant family history should be referred to a genetic counselor by their physician to evaluate for potential genetic mutations.  A significant family history is classified as:

• A first degree relative (grandmother, mother, sister, aunt) diagnosed with breast cancer before age 50
• Both breast and ovarian cancer in your family and particularly in a single relative
• Family history of pancreatic, colon or thyroid cancer
• Relatives with cancer in both breasts
• Ashkenazi Jewish (Eastern European) background
• African American patient diagnosed at younger than 35 years of age
• Male relative with breast cancer

When a patient has been diagnosed with a genetic marker placing them at increased risk for the lifetime development of breast or ovarian cancer, they are known as “Previvors.”  Previvors have a predisposition to the development of cancer but have not thankfully developed the disease.

In our experience, Previvors are faced with a daunting set of decisions.  A patient who has unfortunately developed cancer and been given a diagnosis has less choice as to when to seek treatment than does a Previvor.  In some ways, the diagnosis of cancer has made the decision to seek treatment for the patient.  A patient who is a Previvor must make the very difficult decision to seek treatment with only the knowledge that she is at increased risk for developing cancer.  This is a distinction to which we believe medical professionals must be particularly sensitive. Previvors carry the burden of decision making without the certainty of diagnosis.

We have found that Previvors are particularly well educated and have often times done extensive research concerning their options prior to sitting down with us to discuss reconstructive breast surgery after mastectomy.  Groups such as FORCE and BRIGHT PINK provide valuable resources for patient education to help empower Previvors in this difficult decision making process.

Many Previvor patients have had friends or family members who have had unfortunate experiences with mastectomy and reconstruction.  As such, it is understandable that these encounters only further complicate an already challenging set of decisions with which they are faced.

When it comes to breast reconstruction, there are certain considerations that we believe are unique to Previvors.  As Previvors do not carry a diagnosis of breast cancer, there is some flexibility with arranging the timeline for surgery.  We tell patients that mastectomy and reconstruction should be performed in a way that best fits with your personal, professional and emotional timetable.

The options for mastectomy and reconstruction are similar for Previvors as they are for Survivors.  In general, implant-based reconstruction and autologous tissue are the two types of reconstruction that are offered to patients.  Many of our consultations with Previvor patients include a discussion of direct-to-implant reconstruction, nipple-sparing mastectomy, autologous fat graft placement, DIEP flap transfer and pre-pectoral implant placement.  The appropriateness of any one of these operations largely depends on the patient’s aesthetic and reconstructive goals as it does their general anatomy and breast architecture.

We spend an extensive amount of time with patients in the consultation phase of surgery.  Once the decision has been made to proceed with mastectomy and reconstruction, it is critically important to identify the operation that will provide the patient with the highest quality outcome with the lowest chance for surgical complication.

In our experience, patients that undergo risk-reducing surgery are very satisfied with their decision making process and their surgical outcomes, and it all begins with the surgical consultation where we outline the surgical plan.

Recent outcomes research has been able to provide data to support our anecdotal experiences regarding patient satisfaction, and a study by Lisa Rezende, PhD has looked at some of the concerns of patients undergoing risk reduction mastectomy and reconstruction.

The study looked at over 500 women who had responded to a survey questionnaire on mastectomy to manage breast cancer risk.

90% of the patients who had undergone mastectomy proceeded with reconstruction.

Previvors who underwent mastectomy are most concerned about the following:

• look and feel of body after mastectomy
• loss of sensation in the breast
• recovery time after mastectomy and/or reconstruction
• concern about surgical complications

The most common complication faced by patients was a loss of muscle strength or mobility (18%).

In our practice DIEP (deep inferior epigastric perforator) flap reconstruction plays a particularly important role in the reconstructive process in order to limit the potential for exactly these types of complication.

In performing a DIEP flap, we are able to use the abdominal fat and skin based on the blood supply to this tissue to perform a natural breast reconstruction.  DIEP flap avoids injury to the rectus abdominus (six-pack) muscles and avoids the use of implanted mesh.  Importantly, the tissue is placed above the pectoralis major muscle on the chest where the native breast is anatomically located.  As such, there is also no manipulation of this muscle as with an implant-based reconstruction that may also affect a patient’s strength or mobility at the shoulder girdle.  The reconstruction provides for a soft, supple, warm breast reconstruction that offers the most long term reconstruction without the need for further surgery in the patient’s lifetime after completion.

A large study that looked at over 7600 patients who have undergone mastectomy evaluated patients’ satisfaction with their decision making with regard to reconstructive surgery.

The study revealed that patients who underwent abdominal flap or buttock or thigh flap reconstruction reported the highest breast satisfaction scores.  The lowest satisfaction scores were reported by women without reconstruction.

As our understanding of the biology of breast cancer and the genetics that underlie this disease process increases, so does our understanding of the appropriateness of the different surgical options.  Outcomes research studies such as the ones cited above help patients, Previvors and Survivors alike, make informed decisions as to their options concerning breast reconstruction.

We are fortunate that the Federal Government has recognized the importance of offering reconstructive options to patients.  Two landmark legislations should be highlighted to all patients seeking to gain a better understanding of their options with regard to mastectomy and reconstruction.  The first is the Women’s Health and Cancer Rights Act of 1998.

Under WHCRA, group health plans and insurance companies offering mastectomy coverage also must provide coverage for all stages of reconstruction of the breast on which the mastectomy was performed as well as surgery and reconstruction of the other breast to produce a symmetrical appearance.  Furthermore, nothing in the law limits WHCRA rights to cancer patients alone.  As such, patients that carry a genetic carrier status for breast carcinoma (ICD10 diagnosis code Z14.8) are also eligible for benefits under the WHCRA.

More recently, Congress has passed the Breast Cancer Patient Education Act requiring the Secretary of Health and Human Services to plan and implement an education campaign to inform breast cancer patients of the availability of coverage of breast reconstruction.

Another area of common of concern for Previvor patients is risk reduction surgery not only for breast cancer but also for ovarian cancer.  National guidelines recommend that women with BRCA mutation have their ovaries and fallopian tubes removed to reduce the risk of ovarian cancer.  Removal of the ovaries has been shown to also reduce breast cancer risk by about 50%.

In our practice, we are often faced with helping patient make decisions regarding the timing of oophorectomy and mastectomy reconstruction.   We have looked at this question from a research perspective and were able to publish our conclusions regarding recommendations for surgical timing.

For patients undergoing mastectomy and DIEP flap reconstruction, we recommend surgery prior to oophorectomy.  The results of our study demonstrated an increased feasibility for performing successful DIEP flap with such an approach.  We generally, recommend three months between these two surgeries in order to allow for post-surgical recovery time.

As we enter the era of personalized medicine and healthcare, understanding a patient’s genetic carrier status will give us new insights into treatment options.  These insights allow for the development of individualized treatments that can be suited to the patient.  As breast reconstructive surgeons, we believe that individualizing a patient’s reconstruction to their body type and anatomy is one of our highest priorities.  Although such surgery can never be taken lightly, in the proper hands, it can be performed in a way that ensures patient safety and helps the patient return to their normal quality of life as soon as possible.  Patients with a Hereditary Breast and Ovarian Cancer diagnosis face life-altering decisions.  With proper support and education, patients can be helped to make the right decision for them and their families.

*The information available on this page was created to educate our patients. It is not an alternative for a formal consultation with a board-certified plastic and reconstructive surgeon. Individual results vary per patient. For more information, we strongly recommend scheduling a consultation with our doctors.