Full sequencing of the BRCA1 and BRCA2 genes
Mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast cancer.
In women with a pathogenic variant in one of these genes, the lifetime risk of the disease is 40–80%. The risk of ovarian cancer in such women is 11-40%, while for other types of malignant tumors it is lower.
Although hereditary forms of breast cancer account for less than 5% of all cases, they are more common in young women and in patients with triple-negative breast cancer.
If mutations in BRCA1/BRCA2 are detected, genetic counseling is recommended. Further testing of other family members may also be useful to determine their risk.
The BRCA1 and BRCA2 genes are not limited only to breast cancer risk.
Pathogenic variants in these genes increase the likelihood of developing ovarian,
gastric, colorectal, endometrial, pancreatic, bladder, biliary tract cancers, tumors of the head and neck, as well as melanoma.
Individuals at high risk with identified mutations are recommended to undergo genetic counseling to discuss surveillance strategies and measures to reduce the risk of developing breast cancer.
Indications for the study "Full sequencing of BRCA1 and BRCA2 genes":
- Any diagnosed case of breast cancer.
- Primary multiple tumors (e.g., breast cancer and gastric cancer).
- A healthy woman if close relatives were diagnosed with breast cancer before the age of 45.
- A healthy woman concerned about her risk of developing breast cancer.