Clinicopathological features of a kindred with SCG5-GREM1-associated hereditary mixed polyposis syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "Human pathology"
DOI: 10.1016/j.humpath.2016.10.002
Abstract: Since first characterized in 1997, patients with hereditary mixed polyposis syndrome (HMPS) have been difficult to identify because of lack of well-established diagnostic criteria. Recently, HMPS was found to be caused by a duplication on… read more here.
Keywords: polyp; mixed polyposis; scg5 grem1; hereditary mixed ... See more keywords
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance.
Sign Up to like & getrecommendations! Published in 2017 at "Gastroenterology"
DOI: 10.1053/j.gastro.2017.02.014
Abstract: Hereditary 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… read more here.
Keywords: mixed polyposis; duplication; polyposis syndrome; syndrome ... See more keywords
A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome
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DOI: 10.1093/jjco/hyaa059
Abstract: Abstract Hereditary mixed polyposis syndrome (HMPS) is a rare autosomal dominant disorder characterized by a mixture of typical and/or atypical juvenile polyps, adenomas and hyperplastic polyps, resulting in an increased risk of colorectal cancer. In… read more here.
Keywords: mixed polyposis; germline bmpr1a; polyposis syndrome; japanese family ... See more keywords