BRCA explains only a fraction of breast cancers – metabolism-related genes may also increase risk

A new study has identified 80 genes that may increase the risk of developing breast cancer — Including 70 which were previously unknown to be linked to the disease.

These genetic variants – genes with distinctly different DNA codes – were discovered by scientists who analyzed the genomes of people from a dozen families. All 12 families have a high incidence of breast cancer, but their cancers had no known genetic cause.

Most cases of breast cancer occur spontaneously, meaning they are not the result of genetics passed down through families. However, approximately 5 to 10% of cases are hereditaryoccurring in people with a family history of the disease. Among these individuals, about 30% will carry mutations in two genes called BRCA1 and BRCA2, which normally help repair damaged DNA in cells but dysfunction in case of cancer. Other people may carry different genetic variants that increase their risk, such as PTEN And TP53.

However, many families are left without answers as to the genetic cause of their disease.

One possible reason for this is that large-scale genetic studies of cancer have focused primarily on women of European ancestry, said Dr Gal Passilead author of the new study and a doctoral student in computer science at the Hebrew University of Jerusalem. These likely overlooked genetic variants that might be carried by ethnic groups not included in the analyses, he told Live Science.

To help close this gap, Passi and colleagues analyzed the genomes of 12 families of Middle Eastern, North African, and Ashkenazi Jewish ancestry. This included 35 people with breast cancer and 5 without the disease. Breast cancer was common in these families, but each family member tested negative for known genetic risk variants of the disease.

In these people’s genomes, researchers identified 1,218 mutations shared among people with breast cancer. They then used a combination of machine learning techniques – a type of artificial intelligence – and an analysis to predict what types of proteins each of the genes carried instructions for. In this way, they predicted which genetic variants are likely to produce carcinogenic proteins.

They focus on 80 variants significantly associated with an increased risk of developing breast cancer.

Eight of these genetic variants – carried by members of seven of these families – encoded proteins involved in fatty acid metabolism. Fatty acids are the building blocks of fat molecules, which cells in the body break down to release energy. Although only a theory at this point, it is possible that breast cancer cells somehow target these fatty acid breakdown pathways to improve their chances of survival, Passi said. This would be logical because tumors are very energy-demanding fabrics.

In a separate experiment, researchers analyzed the genomes of about 10,000 breast cancer patients whose information was stored in a large genetic database. They found that the eight genetic variants identified in their study were carried by 9%, or about 900, of these individuals.

They also found that three of these variants were linked to poor survival rates in patients who carried them, compared to people carrying different versions of the genes.

Taken together, these data support the idea that these 80 genetic variants are relevant to breast cancer.

Researchers now want to do laboratory experiments to see if the genetic variants actually produce proteins that change the way tumors emerge and grow, Passi said. In their current study, they only made predictions about tumor behavior. They must now be confirmed. The team would also like to see if they can identify more cancer-linked variants in more families with the disease.

Identifying variants like these is important because it could pave the way for more inclusive genetic testing for breast cancer and, hopefully, the development of treatments targeting each unique type of cancer, Passi said. One of the genetic variants highlighted in the study, called HSD17B4, has previously been suggested to be a potential drug target in breast cancer, he added.

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