Preoperative genetic testing impacts surgical decision making in BRCA mutation carriers with breast cancer: a retrospective cohort analysis

Abstract

BackgroundThe impact of timing of genetic testing on surgical decision making in women with breast cancer and BRCA mutation is not well known.MethodsWomen who were found to carry a deleterious BRCA mutation and had been diagnosed with breast cancer were identified from a database at Beaumont Health. Women who had received BRCA positive results at least a day prior to their index surgery were considered to be aware of their mutation status prior to surgery. Baseline characteristics and surgical choices were compared between women who were aware of their mutation status prior to surgery and those who were not. Fischer’s exact test was used for categorical variables and Mann–Whitney U-Test was used for continuous variables.ResultsA total of 220 patients were included in the final analysis, 208 (94.5%) with unilateral breast cancer and 12 (5.5%) with bilateral breast cancer. Out of the 208 patients with unilateral breast cancer, 106 (51.0%) patients were aware of their mutation status prior to index surgery while 102 (49%) were not. A significantly (p < 0.05) higher proportion of women underwent contralateral prophylactic mastectomy in the group that was aware of their mutation status prior to index surgery compared to the group that was not (76.4% vs 14.7%).ConclusionsOur study demonstrates that knowledge of BRCA mutation status impacts surgical decision making in favor of bilateral mastectomy in patients who are aware of their results prior to index surgery. This finding supports the practice of preoperative genetic testing in patients with newly diagnosed breast cancer.

Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients

“…Clinic-based studies have established that when newly diagnosed breast cancer patients receive genetic testing results prior to their definitive breast cancer surgery, over 50% of mutation carriers opt for immediate bilateral mastectomy (BLM) [14–20]. However, identification and referral of newly diagnosed high-risk breast cancer patients is suboptimal.…”

Paired tumor sequencing and germline testing in breast cancer management: An experience of a single academic center

“…Variants in CHEK2 and ATM can impact cancer surveillance and cancer screening, as well as prevention for blood relatives 40,41 . For our patients, the discovery of these actionable germline mutations led to recommendations for increased breast cancer surveillance with the addition of screening breast MRIs (for both ATM and CHEK2 mutation carriers) and more frequent colonoscopies for colon cancer surveillance (for CHEK2 mutation carriers only) 42 .…”

Nipple-sparing mastectomy in women at high risk of developing breast cancer

“…The rate of mutations in women who has developed both ovarian and breast cancer was 27.8% and in males with breast cancer, 11.5% (21). Studies have demonstrated that women who know their BRCA status before surgery are more likely to opt for bilateral mastectomy (i.e., contralateral riskreducing mastectomy) than those who do not have this information (22,23). Moreover, the presence of a mutation allows predictive testing of relatives, hence identifying other family members at high risk.…”