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Background: Protein MUTYH, encoded by the gene MUTYH, is an important mismatch repair enzyme in the base-excision repair pathway of DNA repair. When genetically altered, different neoplastic conditions can arise. One of the widely known syndromes associated with MUTYH mutations is MUTYH-associated polyposis, a form of familial colorectal cancer syndrome. MUTYH may also be a driver in other familial cancer syndromes, as well as breast cancer and spontaneous cancer cases. However, some controversies about the role of these alterations in oncogenesis remain, especially when affected in a heterozygous way. Most available data on MUTYH mutations are on Caucasian patients. Material and Methods: We analyzed a small cohort of non-Caucasian, Colombian cancer patients with MUTYH germline heterozygous mutations, clinical features suggestive of familial cancer, and extensive genetic studies with no other mutations and without MUTYH-associated polyposis. Conclusion: With this case series, we intended to provide important data for the understanding of MUTYH as a possible driver of familial cancer, even when only heterozygous mutations are found. [ABSTRACT FROM AUTHOR]

Background Gastric carcinoma (GC) has been associated with the presence of Helicobacter pylori infection. The infection rates vary according to geographic region and the majority of infected persons remain asymptomatic. Recent studies have suggested a controversial role of H. pylori infection in GC prognosis. The GC incidence rate in Colombia is among the highest of all Latin-American countries at 18.5 per 100,000 people. Furthermore, GC is responsible for the highest mortality rate among all malignancies in the country. This study aimed to describe GC survival in patients with H. pylori infection. Methods Hospital registries for all patients diagnosed with GC between 2000 and 2015 were consulted for clinical data. The hospital-based cancer registry was cross-linked with a population-based cancer registry to obtain IARC/WHO ICD-O-3 classification and follow-up information on all patients. Survival analysis was estimated using the Kaplan–Meier method. Differences between H. pylori cases and non- H. pylori cases were assessed through Pearson chi-2, Fisher exact test, log-rank test, and Cox regression. Results A total of 500 GC cases were included and 8.6% had H. pylori infection. In the H. pylori cases, the median age was 62 years (IQR = 52–71), 56% were men. All cases had a tumor size >5 mm, Lauren classification was 60% intestinal type and 40% diffuse type. Regarding clinical stage, 33% of the patients were classified as localized (TNM AJCC 7th edition: IA, IB, IIA), 35% as regional (IIB, IIIA, IIIB, IIIC) and 12% were distant (IV). There was a statistically significant difference between H. pylori cases and non- H. pylori cases survival (P = 0.0151). In univariate analysis, H. pylori infection was associated with better cancer-specific survival [HR = 0.5398; 95% CI: 0.3255–0.8950; P = 0.017]. In multivariate analysis, H. pylori infection [HR = 0.5934; 95% CI: 0.3577–0.9843; P = 0.043] and clinical stage [HR = 1.5327; 95% CI: 1.3672–1.7182; P < 0.001] were independent prognostic factors for cancer-specific. Conclusion This study showed that H. pylori infection is a beneficial prognostic indicator in patients with GC Cases, and GC survival in cases with H. pylori infection was better compared with non- H. pylori cases. Disclosures All authors: No reported disclosures. [ABSTRACT FROM AUTHOR]