scholarly journals QATAR’S EXPERIENCE WITH HEREDITARY BREAST AND OVARIAN CANCER AND HIGH RISK CLINIC: A RETROSPECTIVE STUDY 2013-2016

2017 ◽  
Vol 5 (10) ◽  
pp. 184-196 ◽  
Author(s):  
Salha Mohammed Bujassoum ◽  
HekmetAbubaker Bugrein ◽  
Reem Jawad Al-Sulaiman ◽  
Hafedh Ghazouani
Keyword(s):  
Breast Cancer ◽  
Retrospective Study ◽  
Genetic Testing ◽  
High Risk ◽  
Cancer Patients ◽  
Breast Cancer Patients ◽  
Brca Mutations ◽  
High Risk Patients ◽  
Risk Patients ◽  
High Risk Clinic

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.

scholarly journals Impact of Different Modules of 21-Gene Assay in Early Breast Cancer Patients

2021 ◽  
Vol 12 ◽  
Author(s):  
Mengdi Chen ◽  
Deyue Liu ◽  
Weilin Chen ◽  
Weiguo Chen ◽  
Kunwei Shen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
Low Risk ◽  
Breast Cancer Patients ◽  
Younger Patients ◽  
Gene Assay ◽  
Risk Patients ◽  
Gene Modules ◽  
The Impact

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.

Prevalence of BRCA mutations in a cohort of young high-risk breast cancer patients

2004 ◽  
Vol 22 (14_suppl) ◽  
pp. 9662-9662 ◽  
Author(s):  
B. Bahadini ◽  
J. Herzog ◽  
G. Somlo ◽  
P. Frankel ◽  
S. Sand ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
Breast Cancer Patients ◽  
Brca Mutations ◽  
High Risk Breast Cancer ◽  
High Risk Breast ◽  
Risk Breast Cancer

Mutation analysis of PALB2 in high-risk and lower-risk patients negative for BRCA1 and BRCA2 mutations.

2012 ◽  
Vol 30 (27_suppl) ◽  
pp. 30-30
Author(s):  
Shelly Cummings ◽  
Jenny Peterson ◽  
Elisha Hughes ◽  
Rajesh R. Kaldate ◽  
Sonia Chen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Family History ◽  
High Risk ◽  
Cancer Patients ◽  
Lower Risk ◽  
Risk Group ◽  
Breast Cancer Patients ◽  
Brca1 And Brca2 ◽  
Palb2 Mutation

30 Background: PALB2 has been identified as a breast cancer susceptibility gene conferring ~ 2-4 fold increased risk of breast cancer. A number of studies have estimated the PALB2 mutation prevalence to range from 0.5% - 2.9% in populations of breast cancer patients. We performed an analysis to determine the PALB2 mutation prevalence in a large U.S. referral testing population. Methods: DNA samples were anonymized from two subsets of patients: 955 early onset breast cancer patients with severe family history, and 524 patients with later onset of breast cancer and/or less severe family history. All patients were negative for deleterious sequence mutations or large rearrangements in BRCA1 and BRCA2. Results: We identified 10 disease associated PALB2 mutations in the high risk group of 955 patients and 2 deleterious PALB2 mutations in the lower risk group of 524 patients. Identified PALB2 mutations included 8 nonsense, 3 frameshift mutations and a splice site mutation. The mutation prevalence for the high risk population was 1.05% (95% C.I., 0.5 -1.92) whereas that for the lower risk population was 0.38% (95% C.I., 0.05-1.37). The observed rate of PALB2 variants of unknown significance (VUS) identified in this study was ~5% (78 VUS were in 75 of the 1479 patients that were tested). Our variant classification program which successfully decreased the VUS rate in BRCA1 and BRCA2 is similarly expected to enhance mutation classification on an on-going basis for PALB2 genetic testing. Conclusions: Genetic testing for PALB2 may be indicated as a reflex test for breast cancer patients who test negative for BRCA1 and BRCA2.

scholarly journals Impact of Oncotype DX testing on ER+ breast cancer treatment and survival in the first decade of use

2021 ◽  
Vol 23 (1) ◽  
Author(s):  
Evelien Schaafsma ◽  
Baoyi Zhang ◽  
Merit Schaafsma ◽  
Chun-Yip Tong ◽  
Lanjing Zhang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
Temporal Trends ◽  
Recurrence Score ◽  
Low Risk ◽  
Oncotype Dx ◽  
Risk Scores ◽  
Breast Cancer Patients ◽  
Risk Patients

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.

Prevalence of BRCA mutations in a cohort of young high-risk breast cancer patients

2004 ◽  
Vol 22 (14_suppl) ◽  
pp. 9662-9662
Author(s):  
B. Bahadini ◽  
J. Herzog ◽  
G. Somlo ◽  
P. Frankel ◽  
S. Sand ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
Breast Cancer Patients ◽  
Brca Mutations ◽  
High Risk Breast Cancer ◽  
High Risk Breast ◽  
Risk Breast Cancer

scholarly journals Trastuzumab-induced cardiotoxicity: testing a clinical risk score in a real-world cardio-oncology population

2017 ◽  
Vol 24 (3) ◽  
pp. 176 ◽  
Author(s):  
M. Rushton ◽  
C. Johnson ◽  
S. Dent
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Cancer Patients ◽  
Real World ◽  
Predictive Value ◽  
Low Risk ◽  
Clinical Risk Score ◽  
Breast Cancer Patients ◽  
Risk Patients

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.

scholarly journals HEREDITARY BREAST CANCER SURGICAL TREATMENT

2020 ◽  
Vol 28 (1) ◽  
pp. 25-28
Author(s):  
I. Motuziuk ◽  
O. Sydorchuk ◽  
Y. Kostiuchenko ◽  
N. Kovtun ◽  
P. Poniatovskyi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Surgical Treatment ◽  
High Risk ◽  
Dna Sequencing ◽  
Cancer Patients ◽  
Hereditary Breast Cancer ◽  
Breast Cancer Patients ◽  
Type Of Surgery

Abstract. In this article we present analysis results of the surgical treatment of 56 breast cancer patients who have a high risk of heredity of the disease and meet one or more criteria of genetic testing according to the NCCN vers. 2.2019 guidelines. According to the results of genetic testing by DNA sequencing, 33 mutations were found in 12 genes in 52.7 % of patients. It has been shown that the type of surgery differs depending on the result of genetic testing.

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