INTRODUCTION: The Singapore Polyposis Registry (SPR) was established in 1989 in Singapore General Hospital (SGH). The aims were to provide a central registry service to facilitate identification, surveillance and management of families and individuals at high risk of @entity14 . MATERIALS AND METHODS: This is a review of published literature in the department. RESULTS: The registry currently has 253 families with several genetic conditions-93 @entity1412 ( @entity1412 ) families, 138 Amsterdam-criteria positive presumed @entity4309 ( @entity4309 ) families, 12 families with @entity2838 , 2 families with @entity1050 , and 8 families with @entity2513 ( @entity2513 ). There are also 169 families with a strong family history of @entity14 but no abnormal genes yet identified. In @entity1412 , a diagnostic tool developed has allowed a 94% local @entity1412 germline detection rate in @entity1412 families. Knowledge obtained studying the phenotype of @entity1412 @entity1 has allowed better choice of surgery between ileal pouch anal @entity254 (IPAA) against an ileal-rectal @entity254 (IRA). In @entity4309 , our review has noted a highly heterogenous mutational spectrum and novel variants made up 46.7% (28/60) of all variants identified in this cohort. This may suggest that our Southeast Asian ethnic groups have distinct mutational variants from Western populations. Pathogenic mutations were only confined to @entity6756 and @entity4311 , and identified in 28.8% of families. CONCLUSION: The impact of predictive gene testing for @entity4310 risk in clinical practice has allowed evolution of care. Risk-reducing surgery and aggressive surveillance allows reduction in morbidity and mortality of @entity1 . The SPR will continue to grow and improve outcomes in hereditary @entity14 @entity1 and families.

Genomics of Hereditary XXXX : Lessons Learnt from 25 Years of the Singapore Polyposis Registry.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity6756 :: ('4292', 'Gene') :: ['MLH1'] @entity4309 :: ('MESH:D003123', 'Disease') :: ['Lynch syndrome', 'LS'] @entity2838 :: ('MESH:D010580', 'Disease') :: ['Peutz Jeghers syndrome'] @entity254 :: ('MESH:C563598', 'Disease') :: ['anastomosis'] @entity1050 :: ('MESH:D006223', 'Disease') :: ["Cowden's syndrome"] @entity4311 :: ('4436', 'Gene') :: ['MSH2'] @entity14 :: ('MESH:D015179', 'Disease') :: ['colorectal cancer'] @entity4310 :: ('MESH:D009386', 'Disease') :: ['hereditary cancer'] @entity1412 :: ('MESH:D011125', 'Disease') :: ['familial adenomatous polyposis', 'APC', 'FAP'] @entity2513 :: ('MESH:C563365', 'Disease') :: ['hereditary mixed polyposis syndrome', 'HMPS']
@entity14 :: (MESH:D015179,Disease) :: ['Colorectal Cancer']
