[Oncologic risk counselling unit. Selection of risk groups and results].
OBJECTIVE
We evaluated the patients' selection and the results of the detection of mutations as well as the follow-up of families at a genetic counselling unit.


METHODS
One hundred and fifty three patients were visited corresponding to 137 families: 77 of them were classified as high-risk group, 35 as moderate-risk and 25 as low-risk. The classification of patients in each group was made according to the recommendations of the guidelines and the "Oncoguia de càncer familiar" of the Departament de Salut de la Generalitat de Catalunya.


RESULTS
With regard to familiar antecedents, patients of the high-risk group had an average (standard deviation) of 2.80 (1.5) cases of breast and/or ovarian cancer, while it was 1.82 (0.75) in the moderate-risk group, and 1.05 (0.80) in the low-risk group. Thirty seven families of high-risk (51.9%) were studied for the detection of deleterious mutations in BRCA1/2. Of 37 completed studies, 5 were positive (one BRCA1 and one BRCA2), 3 had variants of unknown significance in BRCA2 and 25 (83.4%) had no deleterious mutation in BRCA1/2.


CONCLUSIONS
A correct selection of patients was performed, because 16.6% of BRCA's studies was positive. This fact allows us to adapt a planning of screening.
Cusidó
Maite
M
Departamento de Ginecología, Institut Universitari Dexeus, Barcelona, España. maicus@dexeus.com
Colomé
Clara
C
Rodríguez
Ignacio
I
Fábregas
Rafael
R
D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008875:Middle Aged; D009369:Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D018579:Patient Selection; D012307:Risk Factors