Uptake of BRCA1/BRCA2 predictive genetic testing in an Irish population is low: a missed opportunity.

INTRODUCTION: Predictive testing for BRCA1 or BRCA2 allows at-risk individuals to engage with appropriate screening and treatment services if a pathogenic mutation is identified. Previous studies have shown uptake of predictive testing to most commonly range between 20% and 40% (Table 2). This represents a missed cancer prevention opportunity. Possible explanations for this low uptake include lack of disclosure of at-risk status to relatives, lack of awareness of cancer genetics services, or patient preference. The goal of the current study was to investigate the uptake of BRCA1 or BRCA2 predictive testing in an Irish population. METHODS: We performed a multicentre, retrospective analysis of 63 pedigrees from two Irish tertiary referral hospitals over a five-year period (2012-2017). Family pedigrees were reviewed to identify at-risk family members eligible for predictive BRCA1 or BRCA2 mutation testing as per international guidelines, and testing rates were determined. RESULTS: A total of 1048 eligible individuals were identified, 318 (30.4%) proceeded to BRCA1 or BRCA2 germline testing including [215 (37.5%) females and 99 males (21.5%)]. Women were significantly more likely to test than men (T = 3.7, p < .0002). Uptake of testing was significant higher amongst first-degree relatives 45% (150/323) compared to 20% (50/258) amongst second degree relatives, and 10 % (33/317) amongst more distant relatives (F = 25.32, p < 0.00001). CONCLUSIONS: Uptake of BRCA1 OR BRCA2 mutation testing in Ireland is suboptimal, particularly amongst Irish males and distant relatives. Further research is needed to identify strategies which may improve uptake within current legal and ethical frameworks.

Growing Teratoma Syndrome of the Liver in a 22-Year-Old Female.

Following a presentation with abdominal pain, a 22-year-old female was diagnosed with a massive primary liver immature teratoma with evidence of omental and pelvic metastases. Despite chemotherapy, the teratoma continued to rapidly increase in size. Significant treatment-associated myelosuppression was challenging as the patient did not want to receive any blood products (religious objections). The only feasible approach was surgical resection. Surgical resection of the primary tumor and abdominal metastases was undertaken despite unappealing perioperative risk with histological specimens demonstrating only mature teratoma. We report the first case of a liver teratoma suggestive of growing teratoma syndrome treated with myelosuppressive chemotherapy and major hepatectomy without the use of any blood products.

Obesity and cardiovascular risk in an oncology day ward population.

INTRODUCTION: The burden of obesity and risk of cardiovascular (CV) disease amongst an oncology population receiving active treatment is ill-defined. We performed a retrospective analysis assessing the incidence of obesity and cardiovascular (CV) risk factors in this group (grp) of patients as well as the predicted 10-year risk of a CV event. METHODS: Data from all patients (pts) receiving intravenous chemotherapy in an Irish oncology satellite unit over an 18-month period was extracted from chemotherapy prescriptions and electronic patient records. To calculate patients' 10-year risk of developing CV disease, we used QRISK, a predictive risk calculator. RESULTS: The prevalence of obesity (BMI > 30) amongst the total population was 19% (n = 21), with 26% (n = 28) overweight (BMI, 25-< 30). Information on CV risk factors was available in 93 pts. with the following rates being observed: hypertension 34%, dyslipidaemia 19%, current smoker 18% and diabetes 11%. The average 10-year risk of a CV event (stroke/MI) in this cohort was 19.2% (± 16.6), with a relative risk of 1.4 compared to their age-matched controls without CV risk factors. CONCLUSIONS: We observed similar or lower rates of obesity and CV risk factors in this cohort compared to the general adult Irish population. The average predicted risk of developing CV disease in this grp was moderate to high. This can have significant future implications with regard to cancer survivorship, disease recurrence and suitability for further oncological treatments.