Genetics of breast cancer: management strategies and risk-reducing surgery

2019 ◽  
Vol 80 (12) ◽  
pp. 720-725
Author(s):  
Rajesh Balasubramanian ◽  
Rachel Rolph ◽  
Catrin Morgan ◽  
Hisham Hamed

The last two decades have witnessed major advances in genetic sequencing which have led to more accurate identification of women at risk of developing breast cancer and calculating the associated cancer risk. This review discusses the current genetic mutations conferring risk of developing breast cancer and the management pathway for these women with identifiable mutations as well as those with a strong family history for breast cancer. Management of these individuals is complex and should involve a multidisciplinary team with interest and expertise in breast cancer genetics. There are several treatment options ranging from surveillance to risk-reducing surgery. Risk reduction surgery has been popularised by celebrities who are carriers of breast cancer genes, and raised public awareness of breast cancer genetics and associated risk.

Author(s):  
S. V. S. Deo ◽  
Madiwalesh Chhebbi ◽  
Ashutosh Mishra ◽  
Jyoti Sharma ◽  
Ajay Gogia ◽  
...  

2015 ◽  
Vol 33 (28_suppl) ◽  
pp. 25-25
Author(s):  
Narendra Nath Basu ◽  
Mariska Den Heijer ◽  
Christi J van Asperen ◽  
Hilary Harris ◽  
Irmgard Nippert ◽  
...  

25 Background: Bilateral risk-reducing mastectomy (BRRM) confers the greatest risk-reduction in women at high-risk of developing breast cancer. Uptake of BRRM is influenced by the attitudes of these women as well as the breast surgeons offering these procedures. We surveyed surgeon members of the American Society of Breast Surgeons to assess their attitudes and knowledge. Methods: An International Cancer Risk Communication Study (InCRisC) questionnaire, previously used to assess attitudes of European physicians and surgeons was sent to 2648 members. Personal and occupational characteristics were recorded and knowledge of cancer genetics and attitudes to BRRM were assessed using clinical vignettes. Results: 439 breast surgeons responded. 98% of surgeons actively took a family history of the father. Almost 100% of surgeons reported a positive attitude towards BRRM. Female surgeons and those treating greater than 100 breast cancers a year were predictors of knowledge of breast cancer genetics and a positive attitude towards BRRM. Conclusions: Multiple factors contribute to surgeons' attitudes towards BRRM. Gender of surgeon and workload contribute to theses observed variations.


Cancers ◽  
2020 ◽  
Vol 12 (10) ◽  
pp. 3053
Author(s):  
Iulia-Monica Groza ◽  
Cornelia Braicu ◽  
Ancuta Jurj ◽  
Oana Zanoaga ◽  
Raduly Lajos ◽  
...  

Breast cancer is one of the most common oncological diseases in women, as its incidence is rapidly growing, rendering it unpredictable and causing more harm than ever before on an annual basis. Alterations of coding and noncoding genes are related to tumorigenesis and breast cancer progression. In this study, several key genes associated with epithelial-to-mesenchymal transition (EMT) and cancer stem cell (CSC) features were identified. EMT and CSCs are two key mechanisms responsible for self-renewal, differentiation, and self-protection, thus contributing to drug resistance. Therefore, understanding of the relationship between these processes may identify a therapeutic vulnerability that can be further exploited in clinical practice, and evaluate its correlation with overall survival rate. To determine expression levels of altered coding and noncoding genes, The Cancer Omics Atlas (TCOA) are used, and these data are overlapped with a list of CSCs and EMT-specific genes downloaded from NCBI. As a result, it is observed that CSCs are reciprocally related to EMT, thus identifying common signatures that allow for predicting the overall survival for breast cancer genes (BRCA). In fact, common CSCs and EMT signatures, represented by ALDH1A1, SFRP1, miR-139, miR-21, and miR-200c, are deemed useful as prognostic biomarkers for BRCA. Therefore, by mapping changes in gene expression across CSCs and EMT, suggesting a cross-talk between these two processes, we have been able to identify either the most common or specific genes or miRNA markers associated with overall survival rate. Thus, a better understanding of these mechanisms will lead to more effective treatment options.


1999 ◽  
Vol 15 (1-3) ◽  
pp. 157-157
Author(s):  
Z. Miedzybrodzka ◽  
N. M. Hamilton ◽  
H. Gregory ◽  
B. Milner ◽  
I. Frade ◽  
...  

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