Objective To determine the rates of germline BRCA1 and BRCA2 mutations in Scottish patients with ovarian cancer, before and after a change in testing policy. Design Retrospective cohort study. Setting Four cancer/genetics centres in Scotland. Population Patients with ovarian cancer undergoing germline BRCA1 and BRCA2 (gBRCA1/2) sequencing before 2013 (under the ‘old criteria’, with selection based solely on family history), after 2013 (under the ‘new criteria’, with sequencing offered to newly presenting patients with non‐mucinous ovarian cancer), and in the ‘prevalent population’ (who presented before 2013, but were not eligible for sequencing under the old criteria but were sequenced under the new criteria). Methods Clinicopathological and sequence data were collected before and for 18 months after this change in selection criteria. Main outcome measures Frequency of germline BRCA1, BRCA2, RAD51C, and RAD51D mutations. Results Of 599 patients sequenced, 205, 236, and 158 were in the ‘old criteria’, ‘new criteria’, and ‘prevalent’ populations, respectively. The frequency of gBRCA1/2 mutations was 30.7, 13.1, and 12.7%, respectively. The annual rate of gBRCA1/2 mutation detection was 4.2 before and 20.7 after the policy change. A total of 48% (15/31) ‘new criteria’ patients with gBRCA1/2 mutations had a Manchester score of <15 and would not have been offered sequencing based on family history criteria. In addition, 20 patients with gBRCA1/2 were identified in the prevalent population. The prevalence of gBRCA1/2 mutations in patients aged >70 years was 8.2%. Conclusions Sequencing all patients with non‐mucinous ovarian cancer gives a much higher annual gBRCA1/2 mutation detection rate, with the frequency of positive tests still exceeding the 10% threshold upon which many family history‐based models operate. Tweetable abstract BRCA sequencing all non‐mucinous cancer patients increases mutation detection five fold.

Sporadic Creutzfeldt-Jakob Disease (sCJD) is a rare, rapidly progressive neurological disorder, that is ultimately fatal. We have written a case report on a patient recently admitted to the hospice having been diagnosed 2 days earlier with sCJD. Unfortunately, she had an aggressive form and deteriorated very rapidly 10 days post admission. Our focus was on symptom control and supportive care, for both patient and family, with psychological and spiritual support a vital component of this. Of her multitude of symptoms, the most challenging were the fluctuating episodes of severe emotional distress, agitation and restlessness. Non-pharmacological approaches proved extremely helpful, but as the disease progressed, we found that in addition to this, a combination of midazolam, levomepromazine and morphine proved the most effective in her syringe driver. All of this care took place within the context of a holistic, multi-disciplinary team, vital for managing the rapidly changing symptoms of this complex disease and its effect on both patient and family. Given its rare nature, there is only limited research on the palliative care aspects of managing terminal sCJD. We therefore hope that by sharing our experience, this case report may prove helpful.

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