BRCA1 and BRCA2 are two genes found in cells. Like all genes, they fulfill their function by ensuring the production of a special protein with the help of notes coded on them.
The task of BRCA genes is to repair DNA damage in cells, that is, damage to other genes. It regulates and controls the normal functioning and proliferation of breast, ovary and other cells. When there is a mutation (defect) in the BRCA1-2 genes, the necessary DNA repairs cannot be made, in this case the proliferation of cells may not be controlled, and the uncontrollable proliferation of cells causes cancer.
BRCA1 - BRCA2 gene mutations are the most common genetic mutations in breast cancer, responsible for 10% of all breast cancers, and the risk of breast cancer in women with this mutation is approximately 50%. There are other mutations seen in breast cancer that bring high risk, these are PALB2, TP53, PTEN, CDH1, CHEK2 mutations.
Criteria suggestive of BRCA1- BRCA2 gene mutation
<Breast cancer in close relatives (grandmother, mother, aunt, sibling) under the age of 50.
Over and breast cancer on the mother's or father's side. .
Having a relative with triple negative breast cancer
Having cancers other than breast cancer in the family
p>
Presence of women with bilateral breast cancer in the family
Ashkenazi (Eastern European Jews)
Having a family history of male breast cancer
Knowing that there is a mutation in the family
Other cancers may also occur in people with mutations in the BRCA1-BRCA2 genes, so patients should be evaluated from this perspective. If a BRCA mutation is suspected in a family tree, if possible, it is necessary to start with the most suspicious person first, for example, the person who has had breast cancer or ovarian cancer. Depending on the mutation variant detected in that person, only that variant detected in other family members is examined.
CDH1, PALB2, PTEN, TP53 are other genetic mutations that bring high risk.
Read: 0
