BRCA1/BRCA2 Germline Mutations and Breast Cancer Risk

2008 ◽  
pp. 417-421
Author(s):  
Peter Devilee
2018 ◽  
Vol 29 (10) ◽  
pp. 2046-2051 ◽  
Author(s):  
X. Chen ◽  
Y. Li ◽  
T. Ouyang ◽  
J. Li ◽  
T. Wang ◽  
...  

2004 ◽  
Vol 11 (1) ◽  
pp. 69-83 ◽  
Author(s):  
N Biglia ◽  
E Defabiani ◽  
R Ponzone ◽  
L Mariani ◽  
D Marenco ◽  
...  

Breast carcinoma is the most frequent tumor in the female population. Many factors can influence the risk of breast cancer; some of them, such as old age and breast cancer 1/2 (BRCA1/BRCA2) gene mutations, are associated with a fourfold increase in risk. A previous diagnosis of atypical ductal or lobular hyperplasia or having a first-degree relative with a carcinoma are factors associated with a two- to fourfold increase in risk. A relative risk between 1 and 2 is associated with longer exposure to endogenous hormones as a result of early menarche, late menopause and obesity, or with recent and prolonged use of hormone replacement therapy (HRT) or with behavioural factors such as high alcohol and fat intake. Is it possible to modify breast cancer risk in postmenopausal women? Risk factors related to lifestyle can be changed, even if it is not clear whether modifying these behavioural factors during the postmenopausal period will influence the overall breast cancer risk. For instance, the influence of exogenous hormones throughout life (both oral contraceptives and HRT) should be evaluated according to the individual risk-benefit ratio. The problem is even more complex for women who carry genetic mutations and for those who have close relatives with breast cancer, who may be candidates for risk reduction strategies. Prophylactic bilateral mastectomy is still controversial, but is frequently offered to or requested by this group of women and may be indicated in BRCA1/BRCA2 carriers. Chemoprevention with tamoxifen and with the new selective estrogen receptor modulators, namely raloxifene, is very promising and deserves a thorough discussion for all high-risk women.


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