@entity1412 ( @entity1412 ), also known as @entity1412 , is a syndrome of unknown genetic basis defined by the occurrence of multiple serrated @entity1127 in the large intestine and associated with an increased risk of @entity14 ( @entity14 ). There are a variety of @entity1412 presentations, which may encompass a continuum of phenotypes modified by environmental and genetic factors. To explore the phenotype of @entity1412 , we recorded the histologic and molecular characteristics of multiple @entity1127 in @entity1 with @entity1412 recruited between 2000 and 2010 from genetics clinics in Australia, New Zealand, Canada, and the United States. Three specialist gastrointestinal pathologists reviewed the @entity1127 , which they classified into conventional @entity652 or serrated @entity1127 , with various subtypes, according to the current World Health Organization criteria. Mutations in @entity817 and @entity984 and mismatch repair protein expression were determined in a subset of @entity1127 . A total of 100 @entity1 were selected for the study, of whom 58 were female and 42 were male. The total polyp count per @entity1 ranged from 6 to 150 (median 30). The vast majority of @entity1 (89%) had @entity1412 affecting the entire large intestine. From this cohort, 406 @entity1127 were reviewed. Most of the @entity1127 (83%) were serrated @entity1127 : microvesicular @entity1127 ( @entity1127 ) (n=156), goblet cell @entity1127 (n=25), @entity6523 ( @entity6523 ) (n=110), @entity6523 with cytologic @entity1141 (n=28), and traditional serrated @entity652 (n=18). A further 69 @entity1127 were conventional @entity652 . @entity817 mutation was mainly detected in @entity6523 with @entity1141 (95%), @entity6523 (85%), microvesicular @entity1127 (76%), and traditional serrated @entity652 (54%), whereas @entity984 mutation was present mainly in goblet cell @entity1127 (50%) and in @entity652 (45%). Four of 6 SSA/Ps with high-grade @entity1141 showed loss of @entity6756 / @entity14437 expression. @entity14 was diagnosed in 39 @entity1 who were more often found to have a conventional @entity652 compared with @entity1 without @entity14 (P=0.003). @entity1 with @entity1412 referred to genetics clinics had a @entity66 with a high polyp burden and a high rate of @entity817 mutation. The occurrence of @entity14 was associated with the presence of conventional @entity652 .

Phenotype and polyp landscape in @entity1412 : a series of 100 XXXX from genetics clinics.

@entity1 :: ('9606', 'Species') :: ['patient', 'Patients', 'patients'] @entity6756 :: ('4292', 'Gene') :: ['MLH1'] @entity1127 :: ('MESH:D011127', 'Disease') :: ['hyperplastic polyps', 'HP', 'polyps', 'colorectal polyps'] @entity66 :: ('MESH:D004194', 'Disease') :: ['pancolonic disease'] @entity984 :: ('3845', 'Gene') :: ['KRAS'] @entity1412 :: ('MESH:D011125', 'Disease') :: ['hyperplastic polyposis', 'SPS', 'polyposis', 'Serrated polyposis syndrome'] @entity14437 :: ('5395', 'Gene') :: ['PMS2'] @entity817 :: ('673', 'Gene') :: ['BRAF'] @entity6523 :: ('MESH:D018256', 'Disease') :: ['sessile serrated adenoma/polyps', 'SSA/P'] @entity14 :: ('MESH:D015179', 'Disease') :: ['colorectal cancer', 'CRC'] @entity652 :: ('MESH:D000236', 'Disease') :: ['adenomas', 'tubulovillous adenoma', 'adenoma'] @entity1141 :: ('MESH:C535662', 'Disease') :: ['dysplasia']
@entity1 :: (9606,Species) :: ['patients']
