Publications by authors named "Elez Vainer"
Background: Colorectal cancers (CRCs) in the Lynch syndromes have been assumed to emerge through an accelerated adenoma-carcinoma pathway. In this model adenomas with deficient mismatch repair have an increased probability of acquiring additional cancer driver mutation(s) resulting in more rapid progression to malignancy. If this model was accurate, the success of colonoscopy in preventing CRC would be a function of the intervals between colonoscopies and mean sojourn time of detectable adenomas.
View Article and Find Full Text PDFBackground: Surveillance of high-risk individuals for pancreatic ductal adenocarcinoma (PDAC) is recommended. This study aimed to determine the prevalence and outcomes of PDAC and its precursor lesions in BRCA1/2 pathogenic variants (PVs) carriers undergoing pancreatic surveillance.
Methods: A retrospective multicenter cohort study of pancreatic surveillance outcomes in Israeli BRCA1/2 carriers preferably with a family history of PDAC.
Article Synopsis
- The Prospective Lynch Syndrome Database (PLSD) gathers data on individuals with MMR variants to study cancer diagnosis and treatment outcomes, focusing on a newly expanded cohort.
- The study includes over 8,500 patients from 25 countries, analyzing cancer incidence, mortality rates up to age 75, and survival rates after diagnosis.
- Findings reveal that while gynecological cancers have high incidence rates among carriers, non-colorectal cancers lead to more deaths, highlighting the need for improved care for these patients.
The standard treatment approach for stage II/III rectal cancer is neoadjuvant chemoradiation therapy (nCRT) followed by surgery. In recent years, new treatment approaches have led to higher rates of complete tumor eradication combined with organ-preservation strategies. However, better tools are still needed to personalize therapy for the individual patient.
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- - The study aims to compare colorectal cancer (CRC) incidences between two groups: one group receiving mandatory colonoscopy surveillance (PLSD) and another group with retrospective data (IMRC) that did not have the same follow-up.
- - Results from the PLSD showed higher CRC rates in carriers of MMR gene variants, particularly for path_MLH1 and path_MSH2, compared to the IMRC cohort, challenging previous expectations about cancer rates in these groups.
- - The study concludes that while colonoscopy did reduce CRC incidences in paths_MPS2 carriers prior to age 50, it did not have the same effect for path_MLH1 and path_MSH2, suggesting the need for reevaluation of
Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background.
Hered Cancer Clin Pract
January 2022
Article Synopsis
- Juvenile polyposis syndrome (JPS) shows a variety of clinical presentations and is influenced by genetic mutations, particularly in different ethnic groups in Israel.
- A study analyzed data from 49 patients across 35 families, revealing that 85% carried pathogenic mutations, primarily in the BMPR1A gene, with notable differences in gastrointestinal (GI) involvement among ethnic groups.
- Findings suggest that patients from non-Russian former Soviet Union (NRFSU) families had a significantly higher rate of gastric issues compared to Sephardic and Ashkenazi Jews, indicating a need for targeted screening in these populations.
Background: Gastroenteropancreatic neuroendocrine neoplasms [GEP-NENs] have rarely been reported in association with inflammatory bowel diseases [IBDs].
Methods: An ECCO COllaborative Network For Exceptionally Rare case reports project [ECCO-CONFER] collects cases of GEP-NENs diagnosed in patients with IBD.
Results: GEP-NEN was diagnosed in 100 IBD patients; 61% female, 55% Crohn's disease, median age 48 years (interquartile range [IQR] 38-59]).
Post-polypectomy surveillance colonoscopy: Comparison of the updated guidelines.
United European Gastroenterol J
July 2021
Background: Recently, three updated guidelines for post-polypectomy colonoscopy surveillance (PPCS) have been published. These guidelines are based on a comprehensive summary of the literature, while some recommendations are similar, different surveillance intervals are recommended after detection of specific types of polyps.
Aim: In this review, we aimed to compare and contrast these recommendations.
Using a simple, environment friendly proteome extraction (TOP), we were able to optimize the analysis of clinical samples. Using our TOP method we analyzed a clinical cohort of microsatellite stable (MSS) and unstable (MSI-H) colorectal carcinoma (CRC). We identified a tumor cell specific, STAT1-centered, immune signature expressed by the MSI-H tumor cells.
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