Should Women Be Checked for Breast and Ovarian Cancer Gene Mutation?

Researchers say testing women over 30 will reduce the number of cases of breast and ovarian cancer.

There is growing evidence that all women aged 30 and over should be tested for inherited gene mutations that can cause breast and ovarian cancer, according to British researchers.

Gynecological oncologist at Queen Mary University of the Barts Cancer Institute in London, Dr. “Compared to the current practice of testing only high-risk women, we can prevent thousands of more ovarian and breast cancers with a population testing strategy,” said Ranjit Manchanda. lida.

It would also be cost-effective to test all women age 30 and older, write Manchanda and colleagues in a paper published this month in the Journal of the National Cancer Institute.

The researchers used a complex mathematical model to arrive at their conclusions.

A few cancer experts called the study sound and thought it provocative, but questioned some of the underlying assumptions.

Current testing practices

The most well-known genes linked to breast and ovarian cancer are BRCA1 and BRCA2.

Together, mutations on these two genes account for 5 to 10 percent of all breast cancers and 15 percent of all ovarian cancers.

Currently, medical guidelines recommend restricting testing for BRCA mutations to family members who have been diagnosed with breast or ovarian cancer, or who have breast, ovarian, fallopian tube, or peritoneal cancer.

Women who have a mutation on the BRCA gene have about 17 to 44% chance of developing ovarian cancer and a 69% to 72% chance of developing breast cancer in their lifetime.

These women can reduce their risk of breast cancer or cancer with special medications, enhanced screening or prophylactic surgery to remove their reproductive organs.

Overall, women who do not carry BRCA gene mutations have a 2% risk for ovarian cancer and a 12% lifetime risk of breast cancer.

But current practice of limiting testing to high-risk women misses many carriers of BRCA mutations, research has shown.

One reason is that more than half of women with BRCA mutations do not have a family history of breast cancer.

expanding test

Manchanda and colleagues came to two conclusions.

First, it would be cost-effective and life-saving to add four additional genes (RAD51C, RAD51D, BRIP1 and PALB2) when testing women at high risk for mutations.


“We are quickly learning that there are some additional genes that carry a significant risk of breast cancer and breast cancer beyond the classic BRCA test.”

they say.

The researchers’ second implication is that it would be cost-effective and life-saving to offer this large panel test to all women over the age of 30, or nearly all of the 100 million women in the United States.

But some experts have questioned some researchers’ assumptions.

First, the researchers assumed that 1 in 147 women in the general population carried a BRCA mutation.

“It’s much higher than most studies,” said Elisa Long, of the University of California Los Angeles (UCLA) Anderson School of Management.

A lengthy collaborative study showed that the 2015 studies that concluded general population testing for BRCA mutations were not cost-effective.

“The estimates I see for BRCA mutations in the general population are 1 in 400, 1 in 600, or 1 in 800,” Long said. “It’s like looking for a needle in a haystack.”

The researchers also assumed that a gene test would cost $330 in the US.

But there is a very wide range in the costs of such tests.

D., program director for breast medical oncology at Massachusetts General Hospital. “The bill can be in the thousands of dollars,” said Leif W. Ellisen.

If the cost of testing equals or exceeds $772, testing all women for the mutations will no longer be cost-effective, the researchers said.

Uncertain gene mutations

Gene testing can reveal mutations that scientists could not classify as harmful or benign, of as yet unknown significance.

This occurs 1 to 2 percent of the time for each breast and ovarian cancer gene tested, Ellisen said. If 6 genes are tested, this rate will rise to 12 percent.

“It has been documented in the literature that many patients with variants of unknown significance received inappropriate and unnecessary treatment, including surgery.

In addition, if all women were tested for breast and ovarian cancer gene mutations, the ambiguous results could be overcome by the harmful mutation results.

Manchanda notes that uncertain test results are a serious problem.

“We need to do more research on how to monitor and consult variants of unknown significance,” Manchanda said.

The US Preventive Services Task Force, a panel of influential independent, government-elected experts, is in the early stages of updating its 2013 recommendation that BRCA testing will be limited to high-risk women. The task force weighs the harms and benefits, but does not consider cost effectiveness.

A member of the task force and professor of family medicine and population health at Virginia Commonwealth University, Dr. “It’s clear that the population will benefit most from this test,” said Alex Krist. “So it’s fair to say that this is an area we’re going to look closely at.”

HealthLine, Should All Women Be Tested for Breast, Ovarian Cancer Gene Mutations?, 2018


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