REVIEW – November 2023

Breast cancer – risk factors, risk prediction and genetic testing, hormonal contraception, hormone replacement therapy


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The risk of developing breast cancer is influenced both by genetic and non-genetic risk factors. Genetic predisposition for breast cancer might also be affected by polygenic risk, in addition to monogenic disease-related mutations. Research work associated with polygenic risk scores (PRS) is promising, but before PRS is taken into routine clinical usage, problems with its development must be conquered. Personal medicine is becoming more important and it has been found that risk prediction is more accurate if all genetic and non-genetic risk factors are considered. In addition, the review included information about the possible effects of hormonal contraception usage on the breast cancer risk. Long-term use of combined hormonal contraception is associated with an increased risk for breast and cervical cancer, but with a decreased risk for ovarian, endometrial and colorectal cancer. It is not clear yet if the usage of progestin-only contraceptives is associated with and increased risk for breast cancer, the results of related studies are controversial.