Breast cancer: genetic tests for everyone? – 05/11/2018


Between 2% and 5% of breast cancers have genetic origins. I eAbout 120,000 women may be carriers of mutations that predispose them to breast and / or ovarian cancer. While these gene anomalies become more and more known, the question of extending tests to all women seems justified. However, there are many obstacles, scientific and ethical.

How to calculate the risk of breast cancer? And above all, can this be assessed by means of a test? Of course, being a carrier of the BRCA1 or BRCA2 mutation is an important clue. But because 50% of women's carriers do not have a family history of breast cancer "Some international colleagues want tests to be extended to all women over 30, " explains Professor Dominique Stoppa-Lyonnet, head of genetics at the Institut Curie.

For his part, he thinks so It is desirable to extend the indications in a reasonable way to all women with triple negative breast cancer, all women with breast cancer before 40, and even some highly progressive breast cancers. " But not all untreated women, without any other risk factor. " I am in favor of progressive and justified evolution ", He says. with "Qualitative genetic tests whose clinical utility has been demonstrated that would be available to everyone, with the notion of territorially available capital".

Classify variants, estimate risk modifying factors

"Test expansion is only valid if the clinical usefulness of the test has been demonstrated", insists Professor Stoppa-Lyonnet. So according to her "First of all, we should be able to classify all variants of genetic mutations"In fact, mutations are not identical. Some are pathogenic, others are neutral or of unknown significance. But we have to wait to get to know them well to extend the test to all women.

also "It will also be necessary to identify all the risk (genetic) modifying factors so as not to overestimate the risk of cancer of a specific genetic mutation." Although other factors are involved. " Of course, one should be sure that he will be able to read the test without interpreting error.


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