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
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
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),”
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
Depending on the genetic test given, the altered
genes detected and cancer drugs recommended can vary
For more informtion
Journal of Clinical Oncology
Gaps in Incorporating Germline Genetic Testing Into
Treatment Decision-Making for Early-Stage Breast