Genetic counseling and clinical management of newly diagnosed breast cancer patients at genetic risk for BRCA germline mutations: perspective of a surgical oncologist

Abstract

Women with a family history of breast cancer who are diagnosed with breast cancer are often counseled to undergo prophylactic mastectomy as part of their treatment for breast cancer. The majority of such individuals make these decisions in haste and without appropriate genetic counseling or testing. Most of them when tested for BRCA or other established mutations find that they are not mutation carriers. In retrospect, this realization leads many to question the wisdom of their prophylactic surgery which is often associated with complications and quality of life problems which they never envisioned. We have designed an algorithm for the management of these patients which minimizes these lifelong problems.

Hereditary Diffuse Gastric Cancer: Prophylactic Surgical Oncology Implications

“…Of all the potential malignant disorders amenable to preventive screening and surgical prophylaxis, gastric cancer has emerged recently [26] as the one in which therapeutic intervention at the time of diagnosis in a symptomatic patient is still accompanied by the worst and nearly universally fatal outcome. Though less virulent cancers, a similar argument for early surgical prophylaxis can be made for ovarian cancer [27], medullary carcinoma of the thyroid [28], colon cancer in familial adenomatous polyposis (FAP) and Lynch syndrome [10,29,30], as well as breast cancer in BRCA mutation carriers [31–35]. All of these have proportionately (as listed) increasing potential for survival through therapeutic advances, including adjuvant systemic therapy.…”

The evolution of personalized cancer genetic counseling in the era of personalized medicine

“…Inclusion of the breast surgeon's perspective prior to the appointment can be an integral part of the genetic counseling process and clarify medical management issues before adding genetic test results to the decision making process. Decision points need to be addressed in addition to traditional counseling such as timing of genetic testing and its possible impact on surgical management as well as radiation therapy decisions [23–25]. The surgical community has offered algorithms that include the benefits of bilateral mastectomy in patients with and without a BRCA mutation [23].…”

“…Decision points need to be addressed in addition to traditional counseling such as timing of genetic testing and its possible impact on surgical management as well as radiation therapy decisions [23–25]. The surgical community has offered algorithms that include the benefits of bilateral mastectomy in patients with and without a BRCA mutation [23]. These algorithms include genetic counseling after a new diagnosis of breast cancer regarding how genetic testing can impact surgical management but also recognizing that deviations can occur based on an individual's distress surrounding the diagnosis.…”

Improving the management of people with a family history of breast cancer in primary care: before and after study of audit-based education

“…40–50 people with a positive family history of breast, ovarian or bowel cancer are found on a GPs list of 2000 patients [7]. Women with increased risk based on a positive family history as described within NICE guidelines may be advised to undergo a range of different forms of surveillance, genetic testing or even preventive management [8]. However, many can be reassured that their risk is not increased above that of the general population.…”