scholarly journals Timely Cancer Genetic Counseling and Testing for Young Women With Breast Cancer: Impact on Surgical Decision-making for Contralateral Risk-reducing Mastectomy

Author(s):  
Shenin Dettwyler ◽  
Darcy Thull ◽  
Priscilla McAuliffe ◽  
Jennifer Steiman ◽  
Ronald Johnson ◽  
...  

Abstract PURPOSE: Genetic testing (GT) can identify individuals with pathogenic variants (PV) in breast cancer (BC) predisposition genes, who may consider contralateral risk-reducing mastectomy (CRRM). We report on CRRM rates in young women newly diagnosed with BC who received GT through a multidisciplinary clinic. METHODS: Clinical data was reviewed for patients seen between November 2014 and June 2019. Patients with non-metastatic, unilateral BC diagnosed at age ≤45 and completed GT prior to surgery were included. Associations between surgical intervention and age, BC stage, family history, and GT results were evaluated. RESULTS: Of the 194 patients, 30 (15.5%) had a PV in a BC predisposition gene (ATM , BRCA1, BRCA2, CHEK2, NBN, NF1), with 66.7% in BRCA1 or BRCA2. Of 164 (84.5%) uninformative results, 132 (68%) were negative and 32 (16.5%) were variants of uncertain significance (VUS). Overall, 67 (34.5%) had CRRM, including 25/30 (83.3%) PV carriers and 42/164 (25.6%) non-carriers. Only a positive test result was associated with CRRM (p < 0.01). For the 164 with uninformative results, CRRM was not associated with age (p = 0.23), a VUS, (p = 0.08), family history (p = 0.19), or BC stage (p = 0.10). CONCLUSION: In this cohort of young women with BC, the identification of a PV in a BC predisposition gene was the only factor associated with the decision to pursue CRRM. Thus, incorporation of genetic services in the initial evaluation of young patients with a new BC could contribute to the surgical decision-making process.

Menopause ◽  
2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Michelle R. Jacobson ◽  
Melissa Walker ◽  
Gabrielle E.V. Ene ◽  
Courtney Firestone ◽  
Marcus Q. Bernardini ◽  
...  

2013 ◽  
Vol 39 (5) ◽  
pp. 498
Author(s):  
Alejandra Recio-Saucedo ◽  
Sue Gerty ◽  
Claire Foster ◽  
Ramsey Cutress ◽  
Diana Eccles

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jinsun Woo ◽  
Geumhee Gwak ◽  
Inseok Park ◽  
Byung Noe Bae ◽  
Se Kyung Lee ◽  
...  

AbstractDecision to undergo risk-reducing mastectomy (RRM) needs to consider several factors, including patient’s preference, surgeon’s preference, family history, and genetic predisposition. The aim of this study was to examine whether preoperative diagnosis of BRCA1/2 mutation status could influence surgical decision-making in newly diagnosed breast cancer patients. We retrospectively reviewed ipsilateral breast cancer patients with BRCA1/2 mutation who underwent primary surgery between January 2008 and November 2019 at a single institution in Korea. Of 344 eligible patients, 140 (40.7%) patients were aware of their mutation status ‘prior to surgery’, while 204 (59.3%) did not. Contralateral RRM rate was significantly higher in the group with BRCA1/2 mutation status identified ‘prior to surgery’ compared to the group with mutation status identified ‘after surgery’ [45.0% (63/140) vs. 2.0% (4/204)] (p < 0.001). Reduced turnaround time of BRCA1/2 testing (p < 0.001) and the use of neoadjuvant chemotherapy (p < 0.001) were associated with BRCA1/2 mutation status identified prior to surgery. Although not statistically significant, higher incidence of developing contralateral breast cancer for BRCA1/2 mutation carriers who underwent ipsilateral surgery-only compared to those who underwent contralateral RRM was observed [12.1% (95% CI: 7.7–17.7%)] (p = 0.1618). Preoperative diagnosis of BRCA1/2 mutation could impact surgical decision-making for breast cancer patients to undergo risk-reducing surgery at the time of initial surgery.


2014 ◽  
Vol 134 (2) ◽  
pp. 326-330 ◽  
Author(s):  
Elizabeth Lokich ◽  
Ashley Stuckey ◽  
Christina Raker ◽  
Jennifer Scalia Wilbur ◽  
Jessica Laprise ◽  
...  

2016 ◽  
Vol 23 (10) ◽  
pp. 3403-3411 ◽  
Author(s):  
Rebecca M. Kwait ◽  
Sarah Pesek ◽  
Michaela Onstad ◽  
David Edmonson ◽  
Melissa A. Clark ◽  
...  

2017 ◽  
Vol 35 (31_suppl) ◽  
pp. 35-35 ◽  
Author(s):  
Huaqi Li ◽  
Winson Y. Cheung ◽  
Paula Myers ◽  
Elaine McKevitt ◽  
Kaylie Willemsma ◽  
...  

35 Background: The impact of high anxiety on surgical decision making has been demonstrated in various cancer settings. For patients undergoing neoadjuvant therapy (NAT) for breast cancer, supportive services can be offered prior to surgery and may help them choose between the options of bilateral mastectomy, unilateral mastectomy, or breast conserving surgery (BCS) where clinically appropriate. However, the effect of anxiety at initial diagnosis and psychological support on these decisions has not yet been studied. Methods: A prospective database of breast cancer patients treated with NAT at the British Columbia Cancer Agency was utilized to extract demographic information, surgical plan with regards to BCS and unilateral or bilateral mastectomy, and information about supportive services utilized. This was correlated with anxiety scores at initial consultation recorded by the Edmonton Symptom Assessment System and the Psychosocial Screen for Cancer. Patients were excluded if they had bilateral breast cancer, BRCA mutation, or missing data. Fisher’s exact tests were applied for statistical analysis. Results: From 2012-2016, 361 potential patients were identified. In total, 203 patients met eligibility criteria: 93 patients (46%) had low anxiety and 110 patients (54%) had high anxiety. Patients with high self-reported anxiety at initial consultation were 19% more likely to undergo aggressive surgery (bilateral mastectomy for unilateral disease or mastectomy for BCS eligible disease) than those with low self-reported anxiety at initial consultation (37% VS 18%; p = 0.003). Of the 110 patients with high anxiety, only 46 patients (42%) utilized counselling before surgery. No significant difference in rate of aggressive surgery was observed in patients with high anxiety who had counselling compared to those who did not (33% VS 41%; p = 0.43). Conclusions: High anxiety at initial consultation is associated with a 19% increase in aggressive surgery compared to patients with low anxiety. Counselling resources are currently underutilized by eligible patients, but this did not have an impact on surgical decision making in this study. This may be an area of opportunity for further research.


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