Gene Variants Predict Breast Cancer

Tumor development and the role of hereditary factors are highly correlated. A new class of biomarkers forecasts tumor progression and an entirely new way of understanding breast cancer origins.

The gene sequences we inherit at conception can predict the type and severity of breast cancer we could develop decades later. The active involvement of gene sequences inherited from our parents, known as the germline genome, determines whether cells bearing potential cancer-causing mutations are either recognized and eliminated by the immune system or if they develop and transform into cancerous cells.

2023 Discoveries

Some of the advancements in breast cancer research that were discovered in 2023 include the approval of two new medicines to treat metastatic breast cancer, as well as successful results for women who would like to have children after breast cancer treatment.

During pregnancy, hormone levels increase tremendously, creating a threat to women diagnosed with breast cancer. Doctors have now discovered that women can safely pause hormonal therapy temporarily to try and become pregnant. Additionally, utilizing the assistance of reproductive technologies and fertility preservation do not increase the chances of developing or having a recurrence of breast cancer. It is safe for both the mother and the baby if women with a BRCA mutation get pregnant after a breast cancer diagnosis.

2023 also brought new treatments and ways to treat breast cancer more effectively.

The United States Food and Drug Administration (FDA) approved a few medicines to treat breast cancer as well. Truqap as well as Orserdu were approved for certain metastatic, hormone receptor-positive breast cancers. The FDA also expanded the use of a medicine called Trodelvy, which previously was only used to treat triple-negative disease, but now includes metastatic hormone receptor-positive breast cancer.

Rosa and Alex Dembitzer - Northern Charitable Foundation - breast cancer genetic research

Hereditary Factors and Immunity

A Stanford Medicine study has found that the path to tumor development is constrained by hereditary factors and immunity. The study challenges the principle that most cancers arise from random mutations that are accumulated throughout our lifetimes. The role of hereditary factors remains poorly understood, and “most malignancies are assumed to result from random errors during cell division or bad luck.” This statement implies that tumor initiation is random, but the study conducted discovers otherwise. Rather, the study found that the path to tumor development is constrained by hereditary factors and immunity. 

Currently, only a few high-profile cancerous mutations in genes are regularly used to predict cancers. These include BRCA1 and BRCA2, which occur in roughly one of every five-hundred women. The study finds that there are tens or hundreds of additional gene variants that can determine why some people remain cancer-free throughout their lives. 

The genes inherited from our parents are known as our germline genome, which act as mirrors of our parents’ genetic makeup. Some inherited genes include mutations that increase cancerous risks.

Inflammatory Pathway

Another study conducted by the University of North Carolina’s School of Medicine found that the cGAS-STING pathway, a pathway inside cells essential for activating the inflammatory immune response, is unleashed to prevent cancer formation by detecting DNA damage within cells. The research team discovered how to “unlock” the pathway, which is normally turned off to prevent excessive inflammation in healthy conditions. The loss of this pathway may be what allows breast cancer cells to withstand high levels of DNA damage without being recognized in the immune system. 

An enzyme called cGAS is tasked with calling on the immune system to seek out the threat and eliminate it. It is in a “turned off” state in effort to prevent the body from unleashing the inflammatory immune response unless completely necessary. Working to identify ways to activate this pathway and treat or prevent cancer development, the lab found that the protein MRE11 may be the key to release the cGAS enzyme.

There is still a vast amount of research to be conducted to help cure breast cancer, although the past few years have given a lot of insight into the complexity of the type of cancer.