Although the absence of a family history of cancer does not mean that the disease cannot develop in the future, it is true that certain inherited mutations increase the risk of breast cancer. Therefore, genetic testing to determine the status (mutated or not) of certain genes in relatives of affected individuals is becoming increasingly common. The most important of these are the BRCA1, BRCA2, and PALB-2 genes.19,20,6
Genetic testing is also performed once cancer has been diagnosed to determine the prognosis and aggressiveness of the cancer:
NGS (Next Generation Sequencing)
The detection of genetic variants from NGS data involves identifying differences in an individual's DNA sequence by comparing it to a reference DNA. NGS has the potential to detect any type of genomic variant in a single experiment.22
PCR (polymerase chain reaction)
PCR is used to identify and characterize circulating tumor cells by searching for tumor-associated point mutations in oncogenes or tumor suppressor genes.23
PD-L1 (Programmed Death-Ligand 1) status
PD-L1 is a protein that acts as a “brake” controlling the body’s immune responses. PD-L1 is found on some normal cells and is present in higher than normal amounts on some types of cancer cells. When PD-L1 binds to another protein called PD-1 (T-cell protein), it prevents T cells from destroying cells that contain PD-L1, such as cancer cells.24 A PD-L1 test uses a sample of cancerous tumor tissue to measure the amount of PD-L1 found on the cancer cells. If you have certain types of cancer, PD-L1 testing can determine if you may benefit from a type of cancer treatment called immunotherapy. Immunotherapy helps your own immune system fight cancer.25
PIK3CA mutation status
The PIK3CA gene tells the body to make the PI3K protein, which helps ensure that cells get the energy they need to grow. When the PIK3CA gene mutates, it starts giving the body incorrect instructions, and the PI3K protein doesn't work as it should, which can cause cancer cells to survive and grow.26
ESR1 mutation status
The ESR1 gene instructs the body to produce estrogen receptors. These receptors signal estrogen receptor-positive breast cancer to grow in the presence of estrogen. In many cases, metastatic estrogen receptor-positive breast cancer develops a mutation in the ESR1 gene during hormone therapy. This mutation causes cancer to grow, even during hormone therapy.26