New study: women with a genetic predisposition to breast cancer are more likely to have a diagnosis
GYNOSOME is a term used to describe women who have inherited a particular genetic mutation in the breast that affects the development of the tissue surrounding the nipple.
It’s been used to classify women who are at a higher risk of developing breast cancer.
But now, a new study published in the American Journal of Physiology by researchers at Harvard Medical School and the University of Cambridge has found that the risk of breast cancer is much higher among women with the gene, which makes up about 15 percent of the total population.
“There are now two separate sets of people who are carrying a variant of the breast cancer gene,” says study author and geneticist Amy M. Gervais.
The findings add to the growing body of evidence linking genetic factors with breast cancer, as well as a growing body that suggests women of African descent have a greater risk of the disease. “
Women who have the mutation, in general, have a higher breast cancer risk, and they’re more likely than women who don’t have the gene to develop breast cancer.”
The findings add to the growing body of evidence linking genetic factors with breast cancer, as well as a growing body that suggests women of African descent have a greater risk of the disease.
In addition to a genetic risk, other traits that can influence breast cancer may also be influenced by the breast-cancer gene, researchers say.
For instance, the genetic risk of having a low IQ is linked to breast-fibre syndrome, which is an increased risk of certain cancers that include breast cancer and ovarian cancer.
“These two traits, breast-and-ovarian cancer, are very, very strong independent associations,” says M.J. Gavrilovic, a professor of epidemiology at the University at Buffalo.
Gendry Gavrian, a clinical geneticist at the Yale University School of Medicine, says she’s not surprised by the study’s findings.
“It’s a very good example of the power of genetics to be used in a better way,” Gavrians co-authored the study.
“I think it’s also a good reminder that people can get genetic mutations and have some kind of genetic predispose, even though they don’t develop breast or ovarian cancer.”
Gervas said her research found that women with this mutation have a 50 percent higher risk than women without it.
“Our results indicate that this gene has a strong association with breast and ovarian cancers, and we should be doing more research to understand the molecular mechanisms underlying these associations,” Gervastyan says.
“A lot of women, when they get breast or ovarian cancer because of a genetic mutation, don’t know that they have the risk.”
She added that it’s important to be aware of this gene’s association with other diseases and health conditions, such as diabetes and high blood pressure.
Geva, who studies breast cancer at the Karolinska Institute in Stockholm, Sweden, said that the research has important implications for women with breast- and ovarian-cancer risk, as it sheds light on how they may have inherited the mutation.
“We need to understand how this gene affects their risk of these other diseases,” she says.
Gevans research also found that in the general population, women with one copy of the gene are at twice the risk.
“For example, in the UK, for every 100,000 women with type 1 breast cancer the risk is two and a half times higher,” she said.
Gjorgard, who was not involved in the study, said the study also suggests that a woman’s genetic makeup can affect how quickly a woman develops breast and ovary cancer.
The researchers found that a mutation in one gene, rs15492660, affects how often a woman has breast or ovarian cancer.
For example, women who carry the mutation have twice the chance of developing the disease, and women who lack it have a threefold increased risk.
The mutation is known to affect many genes, such the genes that make hormones and other molecules, and it affects many genes on both the surface of cells and in the cells’ machinery.
For this reason, Gerva says it’s not surprising that a gene with a gene variant can also affect cancer.
Givian, who is also a professor at the Medical College of Wisconsin-Madison, said her work also highlights the importance of screening for these genetic variations.
“You can’t get rid of breast and ova cancer, but you can reduce their occurrence and possibly slow down the development,” Givans says.
As for the new findings, Gevas is hopeful that more research will uncover more details about how genetic variation affects breast and other cancers.
“This research is an important step forward in understanding the mechanisms that control the development and progression of these diseases,” Gevais says.