Prophylactic and Therapeutic Breast Conservation inBRCA1/2Mutation Carriers

Abstract

Breast-conserving therapy (BCT) for sporadic breast cancer has been widely accepted by surgeons and patients alike. While BCT is associated with a higher risk of ipsilateral breast tumor recurrence (IBTR), it has not been shown to decrease overall survival (OS) in comparison with mastectomy. Many women with a BRCA1/2 mutation opt for mastectomy instead of breast-conserving measures at the time of a breast cancer diagnosis. In some cases, this is due to fear of aggressive disease, but to date, there have been no studies offering strong evidence that breast conservation should not be offered to these women. BRCA1/2-associated breast cancer has not been found to be more aggressive or resistant to treatment than comparable sporadic tumors, and no study has shown an actual survival advantage for mastectomy in appropriately treated affected mutation carriers. This paper reviews the available literature for breast conservation and surgical decision making in BRCA1/2 mutation carriers.

Utilization and Outcomes ofBRCAGenetic Testing and Counseling in a National Commercially Insured Population

“…Data show that these strategies can be effective in reducing cancer incidence and stage at diagnosis and, in the case of oophorectomy, can improve cancer-specific and overall survival, especially if offered prior to any cancer diagnosis. [10][11][12] In order to identify and inform women with HBOC, professional guidelines delineate clinical criteria based on personal and family history 13,14 and recommend, for women who meet the criteria, consultation with a professionally trained, board-certified genetics clinician (GC) for genetic counseling. [13][14][15] Genetic testing for HBOC focuses on analysis of 2 genes, BRCA1 and BRCA2.…”

American BRCA Outcomes and Utilization of Testing (ABOUT) Study: A Pragmatic Research Model that Incorporates Personalized Medicine/Patient‐Centered Outcomes in a Real World Setting

“…& Breast awareness, such as consistent breast self-exams, starting at age 18 years & Clinical breast exam, every 6-12 months, starting at age 25 years & Annual breast MRI screening and mammogram starting at age 25 years (or even younger, based on earliest age of breast cancer in the family) & Option of risk-reducing bilateral mastectomy & Recommend risk-reducing bilateral salpingo-oophorectomy, ideally between 35 and 40 years, and upon completion of child bearing, or individualized based on earliest age of ovarian cancer in the family & For those patients who have not elected risk-reducing salpingo-oophorectomy, consider concurrent transvaginal ultrasound and CA-125 blood test every 6 months starting at age 30 or 5-10 years before the earliest age of ovarian cancer in the family & Option of chemoprevention to reduce risk of breast and ovarian cancer & Possible option of investigational imaging and screening studies through clinical trials Data from academic medical centers around the world show that these recommended strategies for risk reduction and early detection among high risk women can be effective in reducing cancer incidence and stage at diagnosis and, in the case of oophorectomy, can improve cancer-specific and overall survival, especially if offered prior to any cancer diagnosis (Croshaw et al 2011;Kurian et al 2010;Rebbeck et al 2009). These data and increased awareness have resulted in dramatic increases in genetic testing for the two genes, BRCA1 and BRCA2, that have been found to account for a large percentage of HBOC (DeStefano et al 2008).…”

“…In particular, little is known about the sources, quality, or understanding of information before and after testing and the type and extent of disparities in this regard; perceived risks of developing cancer and accuracy of these perceptions; intentions regarding management of risk and the personal beliefs and attitudes underlying these intentions; plans for sharing information with at-risk relatives; and psychosocial impact, both on individuals undergoing testing and their families. Nevertheless, the limited research to date has provided some valuable insights regarding some of the factors, in addition to the actual test results, that might impact the decisions of women undergoing testing, including demographic, medical, family history, psychosocial factors, perceived efficacy of risk management strategies, and the source and content of information and recommendations, including those from qualified genetics professionals and other medical professionals (Croshaw et al 2011;Domchek et al 2010;Rebbeck et al 2009;Schwartz et al 2012).…”

Reasons for Prophylactic Mastectomy in Women Carrying BRCA 1/2 Mutation: A Systematic Literature Review

“…Our study suggests that there are associations that involve socio-demographic data and family history; in fact, according to the review conducted, there seems to be associations between BRCA mutation status, age, parity and number of relatives with cancer. Other studies confirm these results, referring to the evidence of the influence of parity, BRCA mutation status and number of relatives with cancer in the decision for prophylactic surgery [35,44].…”