scholarly journals Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer

2016 ◽  
Vol 23 (10) ◽  
pp. 3232-3238 ◽  
Author(s):  
Akiko Chiba ◽  
Tanya L. Hoskin ◽  
Emily J. Hallberg ◽  
Jodie A. Cogswell ◽  
Courtney N. Heins ◽  
...  
2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Juliette Coignard ◽  
◽  
Michael Lush ◽  
Jonathan Beesley ◽  
Tracy A. O’Mara ◽  
...  

AbstractBreast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.


2010 ◽  
Vol 28 (15_suppl) ◽  
pp. 1549-1549
Author(s):  
A. Custodio ◽  
P. Pérez-Segura ◽  
J. Zamorano ◽  
A. López-Farrã ◽  
E. Olivera ◽  
...  

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.


Cancer ◽  
2008 ◽  
Vol 112 (3) ◽  
pp. 489-494 ◽  
Author(s):  
Amy K. Alderman ◽  
Sarah T. Hawley ◽  
Jennifer Waljee ◽  
Mahasin Mujahid ◽  
Monica Morrow ◽  
...  

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

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