A large study that allows us to more accurately assess the risk of breast and ovarian cancer

Release date: 2017-06-23

A new study of 10,000 women provides a more accurate, age-related assessment of the risk of breast cancer and ovarian cancer in BRCA1 and BRCA2 variant gene carriers. The study also showed that family history and genetic mutation sites should also be considered together.

JAMA first reported the latest research done by the University of Cambridge, England.

The researchers suggest that these findings should be helpful to doctors in advising and counseling about treatment options and changing lifestyles.

The study's lead author, Dr. Antonis Antoniou of the Department of Public Health and Primary Care at the University of Cambridge, said, “We have been able to provide the most accurate exposure to the different age groups to date. This should be for women with BRCA1 and BRCA2 gene defects. Provide more confidence in the process of consultation and clinical intervention."

Cancer occurs due to mutations in genes. These mutated genes alter the way cells work, grow, and divide, causing them to lose control.

Some genetic changes that cause cancer are hereditary, while others occur at some point in a person's life due to replication errors or environmental factors such as exposure to tobacco smoke and radiation, causing DNA damage.

High risk due to BRCA1 and BRCA2

Often, this is the result of the accumulation of hundreds of genetic changes—each genetic mutation increases the risk of someone's illness so little—and this leads to cancer.

However, there are some genes, such as BRCA1 and BRCA2, which we know will greatly increase the risk of breast and ovarian cancer once they are encoded incorrectly or genetically altered.

Under normal circumstances, BRCA1 and BRCA2 help prevent cancer, but if one or both of the genes undergo a mutation, the cells will be "more prone to rapid division and change", leading to cancer.

So why is this latest research important? The reason is that, to date, the assessment of all risks in patients with BRCA1 and BRCA2 mutations has relied on “retrospective” findings, which are to review those who are already ill.

Because it is a “post-event review,” retrospective research is prone to inherent problems such as bias and inaccuracy in the information required to record and report.

The latest study, a prospective cohort study, recruited a large number of nearly 10,000 non-cancer women with BRCA1 and BRCA2 risk genes and followed them for some time. During the follow-up period, some women developed breast and ovarian cancer, while others did not.

Previous prospective studies of BRCA1 and BRCA2 have been completed, but the sample size is very small—for example, the largest sample of breast cancer is only 64.

Age-related risk issues

When they analyzed the results of the study, Dr. Antoniou and colleagues found that carriers of BRCA1 mutations increased rapidly during the 30- to 40-year-old period and then remained at the same level until the age of 80.

For BRCA2 mutant gene carriers, the incidence of breast cancer increased rapidly between the ages of 40 and 50, and then remained at the same level until the age of 80.

The team found that 72% of women with BRCA1-deficient genes had a risk of breast cancer before the age of 80, while women with BRCA2-deficient genes had a 69% prevalence of breast cancer before the age of 80.

Similarly, the researchers found that 44% of women with BRCA1-deficient genes were at risk of developing ovarian cancer before the age of 80, while women with BRCA2-deficient genes had a 17% risk of developing ovarian cancer before the age of 80.

The researchers also found that after 20 years of breast cancer diagnosed on one side, the risk of contralateral breast cancer (ie breast cancer occurring on the opposite side of the breast that has been diagnosed with breast cancer) is carried in the BRCA1 deficiency gene. 40%, and BRCA2 defective gene carriers were 26%.

However, whether it is breast cancer or ovarian cancer, there is a family history. If relatives in the family are diagnosed with certain cancers, the risk of breast cancer is greatly increased. The incidence of breast cancer is on the rise with the increase in the number of breast cancers among first- and second-degree relatives.

Finally, the researchers found that the extent of the risk of cancer varies depending on where the BRCA1 or BRCA2 gene is mutated.

Dr. Charles Shapiro, Director of the Breast Cancer Research Division and Director of the Cancer Survival Agency at the Tisch Cancer Institute in Mount Sinai, New York, commented on the value of this latest study:

“There are too few women with genetic reproductive system mutations in a single research institution to provide sufficient data for effective statistical analysis. However, this study brings together some of the findings of several institutions to The sample size is relatively large. This comprehensive analysis means we have more confidence in the results of the study."

Source: Noble

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