abstract
OBJECTIVE:
To analyse the evolution of a multidisciplinary heredofamilial cancer unit (HFCU) in a university hospital.
METHODS:
This was a retrospective analysis of the activity of our HFCU in its first 5 years of existence.
RESULTS:
Between
July 2010 and July 2015,
1,518 patients from 1,318 families attended
our HFCU.
Genetic testing was offered to 862 patients. Of those, 833
(96.6%) accepted testing, with available results for 636 (76.4%).
Pathogenic mutations in BRCA1 and BRCA2 were found in 175 patients.
Lynch syndrome and adenomatous polyposis were the most frequent
syndromes diagnosed (151/175, 86.3%) among 17 different syndromes
studied. Of the 404 patients
without a previous genetic diagnosis in the
family, 62 (15.3%) were found to have mutations in disease-causing
genes. Prophylactic surgery and follow-up (33.7%) or follow-up only
(66.3%) was proposed for mutation carriers according to international
guidelines and patients' preferences.
CONCLUSION:
We
have a high mutation detection rate, genetic test acceptance, and
compliance with risk reduction strategies. However, there is room for
improvement, especially in genetic testing timing, considering that an
increase in the indications for genetic testing is expected.
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