Quantitative analysis of diffusion-weighted imaging in high-risk patients and newly diagnosed breast cancer patients; a systematic review

Author(s):  
Basmah Altuwayjiri
2017 ◽  
Vol 5 (10) ◽  
pp. 184-196 ◽  
Author(s):  
Salha Mohammed Bujassoum ◽  
HekmetAbubaker Bugrein ◽  
Reem Jawad Al-Sulaiman ◽  
Hafedh Ghazouani

Introduction: Approximately 5%-10% of breast cancer is hereditary and BRCA1 and BRCA2 genes are responsible for most of the cases. In the State of Qatar, the cancer genetics program was established at National Center of Cancer Care and Research on 2013 which is considered the first of its kind in the region dedicated exclusively to providing genetic counseling, risk assessment and management of high risk patients and their families. In this study, we aim to describe our experience with the hereditary cancer and high risk clinic from the period of March 2013 until December 2016.Methods: In this retrospective study, a total of 697 patients were evaluated at the high risk clinic between March 2013 to December 2016. High risk patients were either placed under surveillance or offered genetic testing for the BRCA genes. Results: A total of 697 patients were evaluated at the high risk clinic in which 347 patients were considered eligible for high risk screening. 167 patients pursued genetic testing and 64 patients (38%) had BRCA mutations with BRCA1 being the most common, while 72 patients (43%) were BRCA negative. A total of 31 patients (19%) had variants of unknown significance in the BRCA genes. Most of the BRCA positive patients 63% were affected with either breast and/or ovarian cancers and were within younger age group, while 38% were unaffected. 55% of those BRCA positive affected patients had triple negative breast cancer. The prevalence of BRCA mutations among Qatari breast cancer patients reaches up to 10% while it reaches approximately 3.5% among non-Qatari breast cancer patients. Conclusion: Our program is an example of a well-established and multidisciplinary service targeted toward prevention and personalized medicine in high risk patients that goes in line with Qatar’s 2022 vision of achieving excellence in cancer care. From our unique experience, we show that BRCA mutations are prevalent among Qatari breast cancer patients reaching approximately 10% which can partially explain the young onset diagnosis of breast cancer in Qatar. With the higher awareness about our service and the recent establishment of BRCA testing at HMC, it is believed that the prevalence of BRCA is going to increase. In addition, with the introduction of multigene panel at our clinic, we believe that it will provide us with new perspective on all hereditary cancers. Our data registry on hereditary cancer syndromes will open windows for future research on cancer prevention and targeted therapies.


2021 ◽  
Vol 12 ◽  
Author(s):  
Mengdi Chen ◽  
Deyue Liu ◽  
Weilin Chen ◽  
Weiguo Chen ◽  
Kunwei Shen ◽  
...  

BackgroundThe 21-gene assay recurrence score (RS) provides additional information on recurrence risk of breast cancer patients and prediction of chemotherapy benefit. Previous studies that examined the contribution of the individual genes and gene modules of RS were conducted mostly in postmenopausal patients. We aimed to evaluate the gene modules of RS in patients of different ages.MethodsA total of 1,078 estrogen receptor (ER)-positive and human epidermal growth factor receptor 2 (HER2)-negative breast cancer patients diagnosed between January 2009 and March 2017 from Shanghai Jiao Tong University Breast Cancer Data Base were included. All patients were divided into three subgroups: Group A, ≤40 years and premenopausal (n = 97); Group B, >40 years and premenopausal (n = 284); Group C, postmenopausal (n = 697). The estrogen, proliferation, invasion, and HER2 module scores from RS were used to characterize the respective molecular features. Spearman correlation and analysis of the variance tests were conducted for RS and its constituent modules.ResultsIn patients >40 years, RS had a strong negative correlation with its estrogen module (ρ = −0.76 and −0.79 in Groups B and C) and a weak positive correlation with its invasion module (ρ = 0.29 and 0.25 in Groups B and C). The proliferation module mostly contributed to the variance in young patients (37.3%) while the ER module contributed most in old patients (54.1% and 53.4% in Groups B and C). In the genetic high-risk (RS >25) group, the proliferation module was the leading driver in all patients (ρ = 0.38, 0.53, and 0.52 in Groups A, B, and C) while the estrogen module had a weaker correlation with RS. The impact of ER module on RS was stronger in clinical low-risk patients while the effect of the proliferation module was stronger in clinical high-risk patients. The association between the RS and estrogen module was weaker among younger patients, especially in genetic low-risk patients.ConclusionsRS was primarily driven by the estrogen module regardless of age, but the proliferation module had a stronger impact on RS in younger patients. The impact of modules varied in patients with different genetic and clinical risks.


2021 ◽  
Vol 23 (1) ◽  
Author(s):  
Evelien Schaafsma ◽  
Baoyi Zhang ◽  
Merit Schaafsma ◽  
Chun-Yip Tong ◽  
Lanjing Zhang ◽  
...  

Abstract Background The Oncotype DX breast recurrence score has been introduced more than a decade ago to aid physicians in determining the need for systemic adjuvant chemotherapy in patients with early-stage, estrogen receptor (ER)+, lymph node-negative breast cancer. Methods In this study, we utilized data from The Surveillance, Epidemiology, and End Results (SEER) Program to investigate temporal trends in Oncotype DX usage among US breast cancer patients in the first decade after the introduction of the Oncotype DX assay. Results We found that the use of Oncotype DX has steadily increased in the first decade of use and that this increase is associated with a decreased usage of chemotherapy. Patients who utilized the Oncotype DX test tended to have improved survival compared to patients who did not use the assay even after adjusting for clinical variables associated with prognosis. In addition, chemotherapy usage in patients with high-risk scores is associated with significantly longer overall and breast cancer-specific survival compared to high-risk patients who did not receive chemotherapy. On the contrary, patients with low-risk scores who were treated with chemotherapy tended to have shorter overall survival compared to low-risk patients who forwent chemotherapy. Conclusion We have provided a comprehensive temporal overview of the use of Oncotype DX in breast cancer patients in the first decade after Oncotype DX was introduced. Our results suggest that the use of Oncotype DX is increasing in ER+ breast cancer and that the Oncotype DX test results provide valuable information for patient treatment and prognosis.


2017 ◽  
Vol 24 (3) ◽  
pp. 176 ◽  
Author(s):  
M. Rushton ◽  
C. Johnson ◽  
S. Dent

Background Trastuzumab has improved survival for women with her2-positive breast cancer, but its use is associated with an increased risk of cardiotoxicity. With increased survivorship, the long-term effects of cancer treatment are an important consideration for clinicians and patients. We reviewed the current literature on predicting trastuzumab-related cardiotoxicity and tested a clinical risk score (crs) in a real-world breast cancer population to assess its utility in predicting permanent cardiotoxicity.Methods In this retrospective exploratory cohort study of breast cancer patients referred to a cardio-oncology clinic at a tertiary care centre between October 2008 and August 2014, a crs was calculated for each patient, and a sensitivity analysis was performed.Results Of the 143 patients included in the study, 62 (43%) experienced a cardiac event, and of those 62 patients, 43 (69%) experienced full recovery of cardiac function. In applying the crs, 119 patients (83%) would be considered at low risk, 14 (10%) at moderate risk, and 10 (7%) at high risk to develop heart failure or cardiomyopathy. When applied to the study population, the high-risk cut-off score had a sensitivity of 0.13 [95% confidence interval (ci): 0.08 to 0.20] and a specificity of 0.94 (95% ci: 0.87 to 0.97). The positive predictive value was 0.07 (95% ci: 0.03 to 0.13), and the negative predictive value was 0.93 (95% ci: 0.87 to 0.96).Conclusions The crs demonstrated good specificity and negative predictive value for the development of permanent cardiotoxicity in a real-world population of breast cancer patients, suggesting that intensive cardiac monitoring might not be warranted in low-risk patients, but that high-risk patients might benefit from early referral to cardio-oncology for optimization. Further study using the crs in a larger breast cancer population is warranted to identify patients at low risk of long-term trastuzumab-related cardiotoxicity.


2020 ◽  
Vol 180 (1) ◽  
pp. 177-185 ◽  
Author(s):  
Mara Tynan ◽  
Beth N. Peshkin ◽  
Claudine Isaacs ◽  
Shawna Willey ◽  
Heiddis B. Valdimarsdottir ◽  
...  

2004 ◽  
Vol 22 (10) ◽  
pp. 1823-1829 ◽  
Author(s):  
Marc D. Schwartz ◽  
Caryn Lerman ◽  
Barbara Brogan ◽  
Beth N. Peshkin ◽  
Chanita Hughes Halbert ◽  
...  

PurposeApproximately 5% to 10% of newly diagnosed breast cancer patients carry a BRCA1 or BRCA2 mutation. Given these patients' high risk for contralateral breast cancer, bilateral mastectomy is increasingly considered a treatment option for newly diagnosed BRCA1/2 carriers. In the present study, we prospectively evaluated the impact on surgical decision-making of pretreatment genetic counseling and BRCA1/BRCA2 testing among breast cancer patients at high-risk for carrying a mutation.Patients and MethodsParticipants were 194 newly diagnosed breast cancer patients who had not yet received definitive surgical treatment and who had at least a 10% prior probability of carrying a BRCA1/2 mutation. Participants were offered free genetic counseling and rapid BRCA1/2 testing. Primary analyses focused on the impact of BRCA1/2 test result on subsequent breast cancer surgical treatment.ResultsForty-eight percent of patients who were found to carry a BRCA1/2 mutation chose bilateral mastectomy as their definitive breast cancer surgery. In contrast, 24% of patients in whom no mutation was detected and 4% of test decliners opted for bilateral mastectomy. Additional predictors of bilateral mastectomy included patients' self-reports of physician recommendations for BRCA1/2 testing and bilateral mastectomy.ConclusionThis study highlights patient interest in and the technical feasibility of offering presurgery BRCA1/2 testing to high-risk patients. Most importantly, these results demonstrate that BRCA1/2 test results significantly affect patients' surgical decision-making. The availability of genetic counseling and testing could serve as a valuable aid to patient decision-making for newly diagnosed breast cancer patients at high-risk for carrying a mutation.


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