Germline variant testing in serrated polyposis syndrome.

Background And Aim: Serrated polyposis syndrome (SPS) is now known to be the commonest polyposis syndrome. Previous analyses for germline variants have shown no consistent positive findings. To exclude other polyposis syndromes, 2019 British Society of Gastroenterology (BSG) guidelines advise gene panel testing if the patient is under 50 years, there are multiple affected individuals within a family, or there is dysplasia within any of the polyps.

Screening for Lynch syndrome and referral to clinical genetics by selective mismatch repair protein immunohistochemistry testing: an audit and cost analysis.

Lynch syndrome (LS) accounts for around 3% of colorectal cancers (CRCs) and is caused by germline mutations in mismatch repair (MMR) genes. Recently, screening strategies to identify patients with LS have become popular. We audited CRCs screened with MMR immunohistochemistry (IHC) in 2013.

UK colorectal cancer patients are inadequately assessed for Lynch syndrome.

Objective: To establish whether colorectal cancer patients in two centres in the UK are screened appropriately for Lynch syndrome, in accordance with current international guidance.

Design: Patients newly diagnosed with colorectal cancer over an 18-month period were identified from the UK National Bowel Cancer Audit Programme. Their records and management were reviewed retrospectively.

The impact of obstructive sleep apnea on aortic disease in Marfan's syndrome.

Background: Aortic dissection is a life-threatening manifestation of Marfan's syndrome. Preliminary evidence suggests that obstructive sleep apnea (OSA) is associated with aortic disease in Marfan's syndrome.

Objectives: To study the effect of OSA on aortic events in Marfan's syndrome.