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abstract
Purpose
Genetic
evaluation is increasingly becoming an integral part of the management
of women with newly diagnosed breast and ovarian cancer (OC), and of
individuals at high risk for these diseases. Genetic counseling and
testing have been incorporated into oncological care to help and
complete management and treatment strategies. Risk assessment and early
detection strategies in individuals with BRCA1/2
mutations and with Lynch syndrome have been quite extensively studied,
whereas much less is known about the management of mutation carriers
with less common high-penetrance cancer susceptibility genes (PTEN, TP53, STK11, CDH1), and particularly those who carry mutations in moderate-penetrance genes (e.g., PALB2, CHEK2, ATM, NF1, RAD51C, RAD51D, BRIP1).
Methods
The
latter patient groups represent important ongoing research
opportunities to enable informed counseling about appropriate clinical
management.
Conclusion
We
summarize the current guidelines for the management of high and
moderate-penetrance mutations for breast and OC susceptibility.
Continuous updating of guidelines for proper clinical management of
these individuals is ongoing because of rapid advances in technology and
knowledge in this field. Thus, we exhort the use of multigene panels
for the assessment of cancer risk beyond the classic predisposition
syndromes as a new standard of care in cancer genetics. We further
support an increase of genetic counselors in Europe and use of their
expertise to support genetic testing in specialist multidisciplinary
teams.
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