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New genetic mutation reveals the likelihood & higher risk of a woman getting breast cancer

Countless Americans are diagnosed with different types of cancers every year. Many of these cases result in early and unfortunate deaths. Researchers have been tirelessly trying to figure out what factors cause cancer in an effort to help people take cancer prevention measures. Now a group of experts say they have found a third gene mutation that is actually linked to the deadly disease.

The New York Times reports on the new discovery.

Research found that mutations in a gene called PALB2 increase the risk of breast cancer in women by almost as much as mutations in BRCA1 and BRCA2, the infamous genes implicated in most inherited cases of cancer.  

Earlier information had indicated that mutations in PALB2 were connected to breast cancer, and numerous genetic tests already screen for them. But it had not been clear to what extent these mutations increased a carrier’s odds of developing cancer.

How was the study conducted?

“Dr. Marc Tischkowitz, an associate professor of medical genetics at the University of Cambridge, and his colleagues studied 362 members of 154 families with PALB2 mutations. None had BRCA1 or BRCA2 mutations, but all had at least one family member with breast cancer and a mutation in PALB2. There were 311 women with PALB2 mutations, of whom 229 had breast cancer, and 51 men with the mutation, of whom seven had the disease,” according to The Times.

The findings were recently published in The New England Journal of Medicine. It is unclear how soon tests can be created to examine people for this gene; the way people are examined for the BRCA mutation.

What were the results of the study? The Times reports,

“Over all, the researchers found, a PALB2 mutation carrier had a 35 percent chance of developing cancer by age 70. By comparison, women with BRCA1 mutations have a 50 percent to 70 percent chance of developing breast cancer by that age, and those with BRCA2 have a 40 percent to 60 percent chance. The lifetime risk for breast cancer in the general population is about 12 percent.”

The breast cancer risk for women with this gene was significantly higher than those without it. Researchers estimated that PALB2 carriers had an 8 to 9 times increased risk of getting breast cancer. This applies to women under 40. For women between the ages of 40 to 60 the risk was 8 times higher and the risk for women older than 60 is 5 times higher. Why the difference in risk among the age groups? Researchers said they could not find a reason for this variation.

The research shows other dangerous effects as well. The Times explains, “The data also indicated that women with the PALB2 mutations were slightly more likely to have ‘triple negative’ breast cancer — a form resistant to hormone treatment, more aggressive, and more likely to recur than other subtypes.”

The study used many different sites and subjects from different countries in order to get a comprehensive and varied analysis. The risk of acquiring breast cancer depends not only on genes but also how they interact with the environment.

Many experts weighed in on the study. Dr. Chagpar, from Yale-New Haven Hospital, who was not involved in the study, said, “This has to be tailored to the patients, who may have other mutations and varying family risk,” she said. “With no family history, the increase they found is 35 percent. If you have two or more family members with cancer, they found a risk of 58 percent. As the testing becomes more common, we’ll hopefully end up with studies with thousands of patients in them. We’re going to start getting answers to hard questions.”

Reuters also reported on the new study. In 2011 breast cancer killed more than half a million women in the U.S. alone. This study’s findings has brought on an interesting new reason for certain women are more predisposed to getting breast cancer than others.

“Women with mutations in the gene called PALB2 have a one in three chance of developing breast cancer by age 70. But the risks were highly dependent on family history of breast cancer, the researches said. Those with more relatives affected by breast cancer were at higher risk. Breast cancer is the most common cancer in women worldwide. The World Health Organization estimates it killed more than 508,000 women in 2011,” according to Reuters.

These genes were first discovered in the mid 1990s. But researchers did not think that they have the massive impact that is being shown now.

Dr. Tischkowitz, who led the study, told Reuters,

“Since the BRCA1 and BRCA2 mutations were discovered in the mid-1990s, no other genes of similar importance have been identified. This new finding, however, makes PALB2 a potential candidate to be the third most important genetic risk factor for breast cancer. Now that we have identified this gene, we are in a position to provide genetic counseling and advice," he said in a statement about the research. If a woman is found to carry this mutation, we would recommend additional surveillance, such as MRI breast screening."

A test has been developed for testing for the gene. “The researchers at Addenbrooke's Hospital in Cambridge have developed a clinical test for PALB2 which they said will become part of their service on Britain's taxpayer-funded National Health Service. Clinical testing for PALB2 is also available in certain other diagnostic laboratories worldwide, they said. The scientists said there is evidence that cells carrying the PALB2 mutation are sensitive to a new class of drugs known as PARP inhibitors that are undergoing trials in BRCA1- and BRAC2-related breast cancers. The drugs also may work in PALB2-related breast cancer, they said,” according to Reuters.

While many studies are looking at what is causing cancer, others are looking at what can treat it.

CBS news reports on a study showing that consuming aspirin regularly can lower your risk of developing cancer.

“Long-term cancer prevention may be as easy as taking a nightly dose of aspirin. If taken for 10 years, bowel cancer cases decreased by 35 percent and deaths from the disease by 40 percent, according to the research. The risk of esophageal and stomach cancers is reduced by 30 percent. Dr. Agus says aspirin is effective against cancer because it is an anti-inflammatory,” according to CBS.

Experts hope that all of this new information in the field of cancer will result in the number of cancer cases across the country dwindling as so far they have been steadily rising. 


Gerry Oginski
NY Medical Malpractice & Personal Injury Trial Lawyer