Management of patients with BRCA mutation from the point of view of a breast surgeon

Abstract

Germ-line mutation in BRCA (BReast CAncer gene) 1 or BRCA2 are found in 3-4% of all women with breast cancer. These patients have a significant increased risk of breast and ovarian cancer. They are often younger when diagnosed with the mutation, and the possible breast cancer they get is often aggressive with inferior outcome. There are risk reducing strategies, and the most powerful strategy is risk reducing surgery, both risk reducing bilateral mastectomy (RRM) and risk reducing bilateral salpino-oophorectomy (PBSO). This review is meant to address breast surgery in patients with germline BRCA mutation. The guidelines and techniques applied is under continuous change and it is important for the clinicians to be well informed to provide the patient with the information needed for them to make an informed decision on what risk strategy to choose.

Keywords: BRCA mutation; Breast cancer; Genetically caused breast cancer; Surgery.

Fig. 1

Management of patients with BRCA mutation. Surveillance is often combined with later surgery where timing is according to family planning. ADM – acellular dermal matrix. TRAM – trans abdominis myocutaneous flap. MS-TRAM – muscle sparing TRAM. DIEP – deep inferior epigastric artery perforator flap. SIEA – superior inferior epigastric artery perforator flap. LD – latissimus dorsi flap. SGAP – superior gluteal artery perforator flap. IGAP – inferior gluteal artery perforator flap.

Fig. 2

Implant-based reconstruction. A and B) Traditional two-stage expander implant reconstruction. A) tissue expander placed in a subpectoral pocket. The expander can successively be expanded through a needle injected transcutaneous into a Valve/port which is palpable through the skin above the implant. B) Exchange of the tissue expander to permanent silicone implant. C) Single stage submuscular implant reconstruction with mesh/ADM. D) Single-stage subcutaneous implant-based reconstruction with mesh wrapped around the implant.

Fig. 3

Trans rectus abdominis myocutaneous flap (TRAM) is the most common technique. It can be done with a free flap (A) or pedicled flap (B). It can also be performed by a muscle-sparing trans rectus abdominins myocutaneous flap (MS-TRAM). In a pedicled TRAM flap fat, skin, blood vessels, and muscle from the lower abdominal wall is transferred under the skin up to the chest to rebuild the breast. The blood vessels of the flap are left attached to their original blood supply in the abdomen. In the free flap a flap of skin, fat, and all or part of the underlying rectus muscle are used to reconstruct the breast. Blood vessels of the flap is reattached to blood vessels on the chest using microsurgery.

Fig. 4

An example of autologous breast reconstruction using the DIEP technique. Deep inferior epigastric perforator (DIEP) flaps and superior inferior epigastric artery (SIEA) flap are named after which artery is donated to supply the transplant. DIEP is similar to a MS-TRAM flap except that no muscle is used to reconstruct the breast. In a DIEP flap, fat, skin, and blood vessels are donated from the lower wall of the abdomen (A) and moved to the chest wall to reconstruct the breast. The artery of the flap is connected to the arterial supply of the chest (B).