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How much doctors and you understand breast cancer genetic testing results? (2017-05-25)

Genetic testing for breast cancer risk is evolving rapidly, with growing use of multiple-gene panels that can yield uncertain results. However, little is known about the context of such testing or its impact on treatment..

If you have early-stage breast cancer and have undergone genetic testing, the odds are high that the results were not explained to you by a genetic counselor, and chances are, the results did not affect your surgeon's recommendations for treatment, according to a recent U.S. study.

Many patients with breast cancer are tested without ever seeing a genetic counselor.

"Women should ask their clinicians to refer them to a genetic counselor to discuss their genetic testing results,” lead author Dr. Allison W. Kurian from Stanford University School of Medicine in California.

Half of average-risk patients with genetic variants of uncertain significance undergo bilateral mastectomy, suggesting a limited understanding of results that some surgeons share.

These findings emphasize the need to address challenges in personalized communication about genetic testing.

The added complexity is in part because more genes are being tested, which is good in that it increases the chance of finding a useful result, Kurian said. But it also increases the chance of finding an ambiguous “variant of uncertain significance (VUS),” she said.

Inherited mutations, sometimes called germline mutations, in the genes BRCA1 and BRCA2 are probably the best known as influencing a woman’s risk of breast and ovarian cancer.

But these and other less well-studied inherited mutations can also influence her risk of cancer recurring or of a new cancer in the future, so they may indicate a need for different approaches to treatment.

See also
Depending on the genetic test given, the altered genes detected and cancer drugs recommended can vary widely (2016-12-20)

For more informtion
Journal of Clinical Oncology
Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer