Factors affecting surgical decision-making in carriers of BRCA1/2 pathogenic variants undergoing risk-reducing surgery at a dedicated hereditary ovarian cancer clinic

Menopause ◽  
2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Michelle R. Jacobson ◽  
Melissa Walker ◽  
Gabrielle E.V. Ene ◽  
Courtney Firestone ◽  
Marcus Q. Bernardini ◽  
...  
2021 ◽  
Vol 43 (5) ◽  
pp. 674-675
Author(s):  
Michelle Jacobson ◽  
Melissa Walker ◽  
Lisa Allen ◽  
Marcus Bernardini ◽  
Gabrielle Ene ◽  
...  

2022 ◽  
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.


2021 ◽  
pp. jmedgenet-2020-107501
Author(s):  
Faiza Gaba ◽  
Shivam Goyal ◽  
Dalya Marks ◽  
Dhivya Chandrasekaran ◽  
Olivia Evans ◽  
...  

BackgroundAcceptance of the role of the fallopian tube in ‘ovarian’ carcinogenesis and the detrimental sequelae of surgical menopause in premenopausal women following risk-reducing salpingo-oophorectomy (RRSO) has resulted in risk-reducing early-salpingectomy with delayed oophorectomy (RRESDO) being proposed as an attractive alternative risk-reducing strategy in women who decline/delay oophorectomy. We present the results of a qualitative study evaluating the decision-making process among BRCA carriers considering prophylactic surgeries (RRSO/RRESDO) as part of the multicentre PROTECTOR trial (ISRCTN:25173360).MethodsIn-depth semistructured 1:1 interviews conducted using a predeveloped topic-guide (development informed by literature review and expert consultation) until informational saturation reached. Wording and sequencing of questions were left open with probes used to elicit additional information. All interviews were audio-recorded, transcribed verbatim, transcripts analysed using an inductive theoretical framework and data managed using NVIVO-v12.ResultsInformational saturation was reached following 24 interviews. Seven interconnected themes integral to surgical decision making were identified: fertility/menopause/cancer risk reduction/surgical choices/surgical complications/sequence of ovarian-and-breast prophylactic surgeries/support/satisfaction. Women for whom maximising ovarian cancer risk reduction was relatively more important than early menopause/quality-of-life preferred RRSO, whereas those more concerned about detrimental impact of menopause chose RRESDO. Women managed in specialist familial cancer clinic settings compared with non-specialist settings felt they received better quality care, improved hormone replacement therapy access and were more satisfied.ConclusionMultiple contextual factors (medical, physical, psychological, social) influence timing of risk-reducing surgeries. RRESDO offers women delaying/declining premenopausal oophorectomy, particularly those concerned about menopausal effects, a degree of ovarian cancer risk reduction while avoiding early menopause. Care of high-risk women should be centralised to centres with specialist familial gynaecological cancer risk management services to provide a better-quality, streamlined, holistic multidisciplinary approach.


2020 ◽  
Vol 7 (4) ◽  
pp. 1138
Author(s):  
Prem Kumar Anandan ◽  
Sindhu Sivakumar

Background: Decision making is a complex process, especially when guidelines are lacking. Surgeons then turn to other factors to help guide them make these decisions. This study is an attempt to understand these factors which play a role in the decision making process of surgeons.Methods: A prospective qualitative study was conducted amongst consultant surgeons and surgical residents from various institutes across Bangalore. The questionnaire was sent out to these surgeons and responses were recorded using Google Forms. A total of 158 responses were received and analyzed.Results: 69.2% of surgeons felt that patient preferences influence their decision making process. Age of the patient and medical comorbidities played a role in the decision making process of 95.5% and 94.2% of the surgeons respectively. 91% of the surgeons agreed that their age and experience has a strong influence on the decisions made by them. The institution of work and availability of tools mattered to 61.7% and 80.1% of the surgeons respectively.Conclusions: Factors such as patients’ age, comorbidities, preferences, surgeon’s institution of study, institution of work, experience, and institutional factors influence the decisions made by surgeons. Further study is needed on the larger scale to fully understand the various factors playing a role in the final decision making process.


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.


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