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Ovarian cancer: first-year report of University College London genetic testing service

The first year of a new genetic screening programme at University College London Hospital (UCLH) has resulted proved to be a success. By offering mainstreamed genetic testing (MGT) to patients with ovarian cancer led to 33% of mutation carriers accessing targeted therapies.

MGT was introduced within the gynaecological oncology department at UCLH in February 2015, with funding for BRCA germline testing provided by the UCLH Charity for an initial period of 12 months.

The first-year evaluation of the service, reported in the Journal of Medical Genetics this month, shows that 122 patients with high-grade non-mucinous ovarian cancer underwent BRCA germline testing via MGT. Almost 15% (n=18) of the women tested were found to carry a deleterious BRCA1/BRCA2 mutation. 8 carriers (44%) were diagnosed 21-104 months prior to BRCA testing.

Of particular note, 4 BRCA carriers did not meet previous criteria for genetic testing and would have been missed if they had not availed of the MGT service. As a result, 6 BRCA carriers accessed poly-ADP ribose polymerase inhibitors post-MGT.

However, the authors of the report point out that only 22% of patients with a variant of unknown significance (VUS) were referred to clinical genetics services. They recommend that the pathogenicity of a VUS should be reviewed periodically, as in time it may be reclassified as either deleterious or benign. In some families, segregation analysis of the variant among cancer-affected relatives may help clarify pathogenicity, they say.


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