Abstract
The identification that breast cancer is hereditary was first described in the nineteenth century. With the identification of the BRCA1 and BRCA 2 breast/ovarian cancer susceptibility genes in the mid-1990s and the introduction of genetic testing, significant advancements have been made in tailoring surveillance, guiding decisions on medical or surgical risk reduction and cancer treatments for genetic variant carriers. This review discusses various medical and surgical management options for hereditary breast cancers.
Highlights
High penetrance genes confer a 5- to 20-fold lifetime increased risk of breast cancer and moderate penetrance genes confer a 1.5- to 5-fold increased risk [7,11,16,19,20]. Since each of these genes is associated with a different relative risk (RR) of breast cancer, guidance and decision making about screening and prevention strategies such as chemoprevention and prophylactic surgery vary based on the different genetic variants
The associations between the reduction of in-breast tumor recurrence (IBTR) and contralateral breast cancer events with tamoxifen use and oophorectomy in the study by Pierce et al are modest in comparison to the 90% or greater reductions observed after bilateral prophylactic mastectomy
As genetic testing becomes more prevalent amongst women and indications for panel testing evolve, more confident risk estimates are expected to become available over time, especially for moderately penetrant genes [19]
Summary
The concept that breast cancer can be inherited and passed from one generation to the was first described by Paul Broca in 1866 His wife suffered from early age onset of breast cancer, and after studying her family pedigree, he identified four previous generations with breast cancer [1]. High penetrance genes confer a 5- to 20-fold lifetime increased risk of breast cancer and moderate penetrance genes confer a 1.5- to 5-fold increased risk [7,11,16,19,20] Since each of these genes is associated with a different relative risk (RR) of breast cancer, guidance and decision making about screening and prevention strategies such as chemoprevention and prophylactic surgery vary based on the different genetic variants.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
