Finding all BRCA pathogenic mutation carriers: Best practice models

Nicoline Hoogerbrugge, Marjolijn Cj Jongmans

Research output: Contribution to journalReview articlepeer-review

15 Citations (Scopus)


Identifying germline BRCA pathogenic mutations in patients with ovarian or breast cancer is a crucial component in the medical management of affected patients. Furthermore, the relatives of affected patients can be offered genetic testing. Relatives who test positive for a germline BRCA pathogenic mutation can take appropriate action to prevent cancer or have cancer diagnosed as early as possible for better treatment options. The recent discovery that BRCA pathogenic mutation status can inform treatment decisions in patients with ovarian cancer has led to an increased demand for BRCA testing, with testing taking place earlier in the patient care pathway. New approaches to genetic counselling may be required to meet this greater demand for BRCA testing. This review discusses the need for best practices for genetic counselling and BRCA testing; it examines the challenges facing current practice and looks at adapted models of genetic counselling.

Original languageEnglish
Pages (from-to)S19-S26
JournalEuropean Journal of Human Genetics
Issue numberS1
Publication statusPublished - 1 Sept 2016
Externally publishedYes


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