Cancer Gene Link Makes for Tough Decision

Following the whirlwind celebrity news about actress Christina Applegate’s recent breast cancer diagnosis, many were shocked at her decision to voluntarily undergo a double mastectomy three weeks ago, removing both breasts. Yet, the positive statistics may outweigh the risk, so much so that Applegate actually called the operation a “logical decision” in her interview this week on Good Morning America.

Applegate’s family has a history of the disease; her mother battled breast cancer, and she tested positive for the BRCA1 gene mutation linked to breast and ovarian cancer. Women who carry the BRCA gene mutation have an estimated 85% lifetime risk of developing breast cancer, but a prophylactic mastectomy reduces this risk to less than 1%. Applegate opted for the surgery, followed by more than eight months of reconstructive follow-up surgeries. The 36-year-old is now cancer-free.

Reinie Kaas, MD, from the surgical department of the Netherlands Cancer Institute, in Amsterdam, conducted a series of studies surrounding this gene mutation link with 251 women who underwent a uni- or bilateral mastectomy after one or more rounds of surveillance. The standard procedure was a skin-sparing mastectomy with immediate reconstruction with an implant; about two-thirds of these women had the BRCA1 gene mutation. Yet Kaas recognizes that the decision is not about the statistics. Rather, it is soley the difficult decision of the woman stricken with the disease.

Among Kaas’ study participants, just one of 251 carriers developed breast cancer; that patient is free of disease six years after treatment.

Applegate’s cancer was detected early through a doctor-ordered MRI. She is also looking into implementing a similar program to help women at high risk for breast cancer meet the costs of an MRI, which is not always covered by insurance. Many insurance companies require pre-authorization, which can be difficult to obtain.

Would you instruct your patients to do the same, knowing their risk for breast cancer? Would you make the same informed decision if it were a member of your family?