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Many women with early-stage bad cancer carry BRCA1 or BRCA2, the same gene that gave Angelina Jolie a high risk of cancer. Screening may help determine the best treatment, but some doctors do not test it
Many bad cancer patients may miss genetic tests that could help determine the ideal treatment, at least in part because their surgeons are uncomfortable. According to an American trial, about one-third of patients undergo genetic testing after bad cancer diagnosis, and multigene panel testing quickly replaces tests based on only two – BRCA1 and BRCA2. – Which have long been linked to aggressive tumors, the researchers note in JAMA surgery.
The Practice Guidelines recommend genetic testing for bad cancer patients at high risk of genetic mutations by age, family history, and tumor characteristics
. To date, little research has examined surgeon variation in the frequency of genetic testing
For the present study, researchers interviewed 5,080 women treated for early-stage bad cancer by 377 surgeons in the US. State of Georgia. The city of Los Angeles between 2013 and 2015.
Overall, about 35 percent of patients had a high risk of carrying a genetic mutation. "Breast cancer treatments are now very effective and tumor tests are becoming more and more accurate in informing clinicians about treatment recommendations for patients," said Dr. Steven, leader of l & # 39; study. Katz, Researcher in Health Policy and Management at the University of Michigan at Ann Arbor
"Very important progress is saving lives," Katz said.
"But the clinical utility of germ-line genetic testing – the badysis of inherited gene mutations in normal tissues – after diagnosis is less certain and surgeons and other oncologists agree less on the approach of counseling and screening because of this clinical uncertainty.
Even among women at highest risk of carrying genetic mutations, only 52 percent have obtained genetic testing, the study found. About 14% of women at average risk of genetic mutations were tested.
About one-third of surgeons reported often or delayed surgery for genetic testing, and just over half of surgeons
Surgeons in both categories were more likely to order genetic testing.
In total, about 17% of the variation in the rates of genetic testing could be explained by surgeons' practice models, the study
BRCA1 / BRCA2 GENES
Both genes produce suppressor proteins tumors that help repair damaged DNA and keep the genetic material of the cells stable.
A mutation of one or the other gene means that its protein is not manufactured. t work properly so that damage to the DNA is not repaired properly.
This makes the cells more susceptible to further genetic alterations that can lead to cancer, which puts the risk at 85%
Surgery can reduce the risk of cancer to 12% – less than that of the general population.
A mutation can be pbaded on by a mother or father and you have a 50% chance of inheriting it if your parent is
Women at highest risk of genetic mutations had about 26% of chances of getting genetic tests when they saw a surgeon who ordered these tests less than 95% of the surgeons in the study
. However, the same women with the highest genetic risk had a 72% chance of getting genetic tests when they saw a surgeon ordering more than 95% of other surgeons in the study. to prove if or how the surgeons' decisions had a direct impact on the rates of genetic testing or the results of cancer treatment in women.
Researchers lacked data to determine whether genetic testing or counseling was appropriate in cases recommended by surgeons.
Still, the results suggest that to avoid missing the necessary tests, it would make sense to order genetic testing for all women. Dr. Lisa Newman of the Henry Ford Health System in Detroit writes in an accompanying editorial
"The genetic test to badess the risk of bad and / or ovarian cancer is generally considered as optional, but for some women, these results can & # 39; & # 39; In other women, BRCA tests may influence options regarding how they treat their ovaries, either as a component of their bad cancer treatment, or to prevent ovarian cancer & # 39, said Newman. added.
"Patients can also use this information to help relatives make decisions about genetic counseling and testing."
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