Abstract
The discovery of the association between breast and ovarian cancer and the BRCA genes and the development of methods for genetic testing made it possible to screen women for genetic predisposition to develop hereditary breast cancer (HBC). Parallelly, prevention strategies, including clinical surgical and medical interventions become available in order to reduce cancer risk. In a meantime, we became aware of limitations of genetic testing from the aspect of BRCA gene penetrance, negative result interpretation etc. All of these, together with data that invasive prevention strategies such as prophylactic surgery demonstrate better results in risk reduction than regimens including self and clinical-examination, face BRCA mutation carriers with difficult choice for risk reduction options. Therefore, the patients at high risk of HBC can best make informed decisions when guided by a multidisciplinary genetic counseling team.
Highlights
Minorities of breast cancer patients are present with a striking family history, suggestive of Mendelian inheritance
An additional 15% to 20% of breast cancer cases are concerned as familial breast describing cancers for which positive family history is evident, but they are not associated with known germ line mutations
When mutations in these genes occur, they disrupt their normal functions in regulating cell turnover and DNA integrity, on that way increasing the risk of cancer
Summary
Minorities of breast cancer patients are present with a striking family history, suggestive of Mendelian inheritance. Term hereditary cancer defined cancers associated with specific germ line genetic mutations, inherited as a Mendelian trait, whether through an oncogene, a tumor suppressor gene, or a DNA mismatch repair gene. The discovery of the association between breast and ovarian cancer and the genes BRCA1 and BRCA 2 made it possible to screen women for this genetic predisposition to develop either one or both of these diseases. Since BRCA1 and BRCA2 genes encode proteins that normally function to mediate integrity after DNA damage, they are classified as tumor suppressor genes When mutations in these genes occur, they disrupt their normal functions in regulating cell turnover and DNA integrity, on that way increasing the risk of cancer. Data can be added about family member harboring BRCA1 or BRCA2 mutations, as well as about ethnicity since it has been shown that some ethnically isolated populations such as Ashkenazi Jewish women, have a higher risk of harboring BRCA1 and BRCA2 mutations [5]
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