Abstract:
Hereditary breast and ovarian cancer syndrome and hereditary
non-polyposis colon cancer syndrome are the two most important
syndromes responsible for inherited cancers in gynaecology.
Genetic testing is available for both these syndromes. Breast cancer
gene testing is affordable and easy in women with ancestry where
the mutation patterns are known, whereas other population
groups need full gene screening. Hereditary non-polyposis colon
cancer syndrome can now be diagnosed more frequently with the
use of immunohistochemistry. Ovarian cancer risk is high in
hereditary breast and ovarian cancer syndromes, and advanced
screening techniques should be used when preventive surgery is
not an option. Early detection techniques offer less protection than
prophylactic removal, but enable women to retain their reproductive
organs. Oophorectomy has the advantage of reducing
breast cancer risk. In colorectal cancer syndromes, the risk for
endometrial and ovarian cancer is much elevated. These risks
should be recognised and addressed as these diseases are easy to
prevent.