Patients with SPS have an increased risk of CRC, although lower than previously published. Close colonoscopy surveillance in experienced centres show a low risk of developing CRC (1.9% in 5 years). Specific polyp features (SSA/P histology, proximal location and presence of high-grade dysplasia) should be used to guide clinical management.

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Our results suggest that patients can psychologically cope with cancer panel testing, but distress and uncertainty observed in carriers of moderate penetrance cancer variants in this cohort warrant further research.

BACKGROUND: Lynch syndrome (LS) is characterized by mismatch repair (MMR) deficiency. However, there is a group of patients where LS is suspected because of MMR deficiency but there is no germinal mutation in MMR genes.These patients are known as Lynch-like syndrome (LLS) and there is no consensus about their management. The aim of this study is to describe a large series of LLS patients and to analyze if there are clinical, pathology or molecular differences in patients with suspected hereditary or sporadic origin.METHODS: Patients with colorectal cancer (CRC) were included in a national registry when their tumors show immunochemical loss of MSH2, MSH6, PMS2 or loss of MLH1 with BRAF-wild type and/or no MLH1 methylation and absence of pathogenic mutation in these genes. Demographic, clinical and pathological variables, as well as family history of neoplasms were registered. RESULTS: We included 160 patients with LLS. Mean age at diagnosis of CRC was 55 years. A total of 66 patients were female (41%). Amsterdam I and II criteria were fulfilled by 11%, revised Bethesda guidelines by 65% of cases and 24% were diagnosed because of universal screening. There were no differences in sex, indication for colonoscopy, immunochemistry, pathology findings or personal history of CRC or other LS related tumors between patients fulfilling Amsterdam or Bethesda guidelines and patients diagnosed because of universal screening of LS without family history.

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Patients with SPS have a substantial risk of developing advanced neoplasia under endoscopic surveillance, whereas CRC incidence is low. Personalized endoscopic surveillance based on polyp burden and advanced serrated histology could help to optimize prevention in patients with SPS.

Whereas the NORCCAP criteria achieved the highest sensitivity for APN detection, the UK recommendations benefited from the lowest number of individuals needed to refer for colonoscopy.

Background: There is little information about the fecal immunochemical test (FIT) in familial-risk colorectal cancer (CRC) screening. Objectives: The objective of this article is to investigate whether FIT diagnostic accuracy for advanced neoplasia (AN) differs between average and familial-risk (first-degree relative) patients. Methods: A total of 1317 consecutive participants (595 familial) who collected one stool sample before performing a colonoscopy as a CRC screening test were included. FIT diagnostic accuracy for AN was evaluated with Chi-square test at a 20 mg hemoglobin/g of feces cut-off value. Finally, we determined which variables were independently related to AN. Results: An AN was found in 151 (11.5%) patients. The overall accuracy was not statistically different between both cohorts for AN (88.4%, 91.7%; p ¼ 0.051). At the cut-off stablished, differences in FIT sensitivity (31.1%, 40.6%; p ¼ 0.2) or specificity (96.5%, 97.3%; p ¼ 0.1) were not statistically significant. Finally, independent variables such as sex (male) (odds ratio (OR) 2.1, 95% confidence interval (CI) 1.4-3.1), age (50-65, >65 years) (OR 2.1, 95% CI 1.1-4.3; OR 2.7, 95% CI 1.2-6.1), previous colonoscopy (OR 0.4, 95% CI 0.2-0.9) and FIT 20 mg/g feces (OR 17.7, 95% CI 10.8-29.1) were associated with AN diagnosis. Conclusions: FIT accuracy for AN detection is equivalent in average and familial-risk CRC screening cohorts.