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• W2765735896 abstract "We read with interest the article by Goldberg et al that described patients from 4 Ashkenazi Jewish families with a 40-kb duplication upstream of GREM1.1Lieberman S. et al.Gastroenterology. 2017; 152: 1876-1880Abstract Full Text Full Text PDF PubMed Scopus (30) Google Scholar The authors presented the clinical manifestation of these patients classified as hereditary mixed polyposis syndrome (HMPS) (Table 1) and surmised that GREM1 should be included in gene panel testing for patients of any ancestry with inherited polyposis and hereditary colorectal cancer, including familial adenomatous polyposis (FAP) or the Lynch syndrome. FAP is an autosomal-dominantly inherited syndrome with up to thousands of adenomatous polyps in the colon and rectum that, if left untreated, eventually lead to colorectal cancer. The majority of FAP is caused by inactivation of the adenomatous polyposis coli (APC) gene. HMPS was fist defined in a large Ashkenazi Jewish family SM 96 as a familial colorectal cancer syndrome with “mixed” polyps, such as mixed adenomatous-hyperplastic or mixed adenomatous-juvenile polyps.2Whitelaw S.C. et al.Gastroenterology. 1997; 112: 327-334Abstract Full Text Full Text PDF PubMed Scopus (137) Google Scholar This definition was used to classify the Singapore APC mutation-negative FAP-like families with mixed polyposis phenotype as HMPS and the bone morphogenesis receptor 1A (BMPR1A) gene was discovered as the disease-causing locus in about one-half of these families.3Cao X. et al.J Med Genet. 2006; 43: e13Crossref PubMed Scopus (63) Google Scholar, 4Cheah P.Y. et al.Am J Gastroenterol. 2009; 104: 3027-3033Crossref PubMed Scopus (43) Google Scholar Inactivating BMPR1A mutation was also reported in an Irish HMPS family.5O’Riordan J.M. et al.Colorectal Dis. 2012; 12: 570-573Crossref Scopus (28) Google Scholar Subsequently, a 40-kb deletion upstream of GREM1 was identified as the underlying defect in the Ashkenazi Jewish HMPS families.6Jaeger E. et al.Nat Genet. 2012; 44: 699-705Crossref PubMed Scopus (184) Google Scholar At that time, there was disagreement on whether the Singapore families should be classified as HMPS or juvenile polyposis patients, despite clear clinical documentation of mixed polyps, because a BMPR1A germline mutation was previously identified to be disease causing in some patients with juvenile polyposis.7Cheah P.Y. et al.Nat Genet. 2013; 45: 2-3Crossref PubMed Scopus (4) Google Scholar It is thus surprising in this study that none of the patients in the 4 new Ashkenazi Jewish families classified as HMPS and with GREM1 duplication has mixed polyps (Table 1).1Lieberman S. et al.Gastroenterology. 2017; 152: 1876-1880Abstract Full Text Full Text PDF PubMed Scopus (30) Google Scholar They seemed to have only individual polyps of different morphology, which is not uncommon in all polyposis patients. We have screened Singapore mixed polyposis patients that were microsatellite stable, APC mutation negative, and BMPR1A mutation negative for GREM1 germline mutations. To date, we have not found any GREM1 defect in these patients. Thus, it is highly unlikely that GREM1 defect is disease causing in the Singapore mixed polyposis families and will not be useful for future screening and surveillance in the local context. Some of these patients have deletions in regulatory regions involving other pathways suggesting non-Mendelian mechanisms.8Thean L.F. et al.PLoS One. 2017; 12: e0173772Crossref PubMed Scopus (13) Google Scholar Convergent evolution and genetic heterogeneity could explain the different underlying defect of mixed polyposis patients in different populations. Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and SurveillanceGastroenterologyVol. 152Issue 8PreviewHereditary mixed polyposis syndrome is a rare colon cancer predisposition syndrome caused by a duplication of a noncoding sequence near the gremlin 1, DAN family BMP antagonist gene (GREM1) originally described in Ashkenazi Jews. Few families with GREM1 duplications have been described, so there are many questions about detection and management. We report 4 extended families with the duplication near GREM1 previously found in Ashkenazi Jews; 3 families were identified at cancer genetic clinics in Israel and 1 family was identified in a cohort of patients with familial colorectal cancer. Full-Text PDF" @default.
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• W2765735896 date "2017-12-01" @default.
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• W2765735896 title "GREM1 Defect Unlikely to be Disease Causing and Hence Not Useful for Screening and Surveillance in Singapore Mixed Polyposis Families" @default.
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• W2765735896 doi "https://doi.org/10.1053/j.gastro.2017.04.057" @default.
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