Rates and outcomes of testing for lynch syndrome in a national colorectal cancer screening programme.

BACKGROUND: Lynch Syndrome (LS), the most common cause of hereditary colorectal cancer (CRC), is characterised by pathogenic variants in mismatch repair (MMR) genes. Universal testing of all CRCs for LS can increase detection. Rates and outcomes of testing in Ireland's national CRC screening programme have not been examined previously. METHODS: CRCs diagnosed at two screening sites between 2015 and 2020 were identified. Patient records were used to determine if CRCs had been tested for MMR deficiency and if detected, what downstream testing to rule out LS or genetic testing to confirm LS was undertaken. RESULTS: Over five years, 206 CRCs were diagnosed. Testing for LS was carried out for 100% of CRCs at site A and 69% of CRCs at site B. Of CRCs tested for LS, 14 (8%) were MMR deficient. After downstream testing for BRAF mutation or hypermethylation of MLH1, three CRCs were identified as potentially LS-related. Of these two individuals declined genetic testing and one was lost to follow-up. CONCLUSIONS: By 2020 both sites had implemented universal testing of all CRCs for LS. A small number of individuals were identified as being eligible for genetic testing for LS, however those offered declined testing and one individual was lost to follow up. This highlights the importance of universal testing and the need for referral pathways to ensure all appropriate individuals are referred onwards to genetic services.

Biliary sphincter of Oddi dysfunction: response rates after ERCP and sphincterotomy in a 5-year ERCP series and proposal for new practical guidelines.

INTRODUCTION: The diagnosis and management of sphincter of Oddi dysfunction (SOD) is challenging. AIMS: Retrospective review of endoscopic retrograde cholangiopancreatographies (ERCPs) performed for biliary SOD between 2003 and 2007 and proposal for new management guidelines. METHODS: Patients were identified from the ERCP database. All patients had a history of typical biliary pain and were classified into three groups - group 1: patients with dilated common bile duct and abnormal laboratory investigations at time of pain; group 2: either of the above; group 3: none of the above. All patients underwent ERCP and endoscopic sphincterotomy (ES). Sphincter of Oddi manometry was not carried out. Patients were contacted 18 months after procedure with regard to relief of pain and complications. RESULTS: Seventy-two patients were included - 16.7% male and 83.3% female with an average age of 54.2 years. Ampullary stenosis was found in 76.2% of patients in group 1 and 70% in group 2 compared with 30% in group 3. In group 1, 90.5% of patients reported complete relief of pain compared with 75 and 50% in groups 2 and 3, respectively. Among them 55.6% of patients had previous cholecystectomy. Overall 85% of cholecystectomized patients and 81.3% of patients with an intact gallbladder had complete response to ES. There were no complications in all three groups. DISCUSSION: Our findings are similar to other studies documenting response rates to ES in manometry proven SOD. Our simpler guidelines are more applicable to clinical practice. Group 3 remains the most challenging group. Risk and benefits of ERCP and ES should be discussed with patients in centres where sphincter of Oddi manometry is unavailable, noting that 50% of patients respond favourably to ES.