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abstract (Journal of Medical Genetics)
Purpose To characterise the prevalence of pathogenic germline mutations in BRCA1 and BRCA2 in families with breast cancer (BC) and ovarian cancer (OC) history.
Patients and methods
Data from 21 401 families were gathered between 1996 and 2014 in a
clinical setting in the German Consortium for Hereditary
Breast and Ovarian Cancer,
comprising full pedigrees with cancer status of all individual members
at the time of first counselling,
and BRCA1/2 mutation status of the index patient.
Results The overall BRCA1/2
mutation prevalence was 24.0% (95% CI 23.4% to 24.6%). Highest mutation
frequencies were observed in families with at least
two OCs (41.9%..) and families with at least one breast and one OC (41.6%..), followed
by male BC with at least one female
BC or OC (35.8%..). In families with a single case
of early BC (<36 years),
mutations were found in 13.7% .. Postmenopausal unilateral or bilateral BC did not
increase the probability
of mutation detection. Occurrence of
premenopausal BC and OC in the same woman led to higher mutation
frequencies compared
with the occurrence of these two
cancers in different individuals (49.0%....to
35.2%).
Conclusions
Our data provide guidance for healthcare professionals and
decision-makers to identify individuals who should undergo genetic
testing for hereditary breast and
ovarian cancer. Moreover, it supports informed decision-making of
counselees on the uptake
of genetic testing.
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