importantly however, a negative genetic test or biopsy
result should not deter early referral or management
by a specialist.
A clinician who is knowledgeable in mutational
genetics and who cares for patients at the early part
of the diagnostic algorithm is in an ideal position
to do a tremendous service for those patients and
family members presenting with signs and symptoms
suggestive of hereditary colorectal cancer.
With advances in early detection, and with
the concomitant improvement in survival rates and
functional outcomes, a confirmed diagnosis can
be gratifying for the patient, the family, any newly
diagnosed relatives, the astute physician who first
considers and confirms the diagnosis, and the surgeon
who performs the preventative or curative operative
procedure. Further improvements in early detection will
enhance our ability to diagnose and treat this family of
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