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Hereditary mixed polyposis syndrome

MedGen UID:
1672870
•Concept ID:
C5192681
•
Disease or Syndrome
Synonym: Hereditary Mixed Polyposis
SNOMED CT: Hereditary mixed polyposis syndrome (787410005); HMPS - hereditary mixed polyposis syndrome (787410005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0011023
OMIM® Phenotypic series: PS601228
Orphanet: ORPHA157794

Definition

Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease with characteristics of the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary mixed polyposis syndrome

Professional guidelines

PubMed

Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Gastroenterology 2022 Jun;162(7):2063-2085. Epub 2022 Apr 26 doi: 10.1053/j.gastro.2022.02.021. PMID: 35487791
Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. Multi-Society Task Force on Colorectal Cancer.
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Gastrointest Endosc 2022 Jun;95(6):1025-1047. Epub 2022 Apr 26 doi: 10.1016/j.gie.2022.02.044. PMID: 35487765
Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Am J Gastroenterol 2022 Jun 1;117(6):846-864. Epub 2022 Apr 26 doi: 10.14309/ajg.0000000000001755. PMID: 35471415

Suggested Reading

PubMed

Genetics of Colorectal Cancer (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389505
Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389258

Recent clinical studies

Etiology

Hamartomatous polyposis syndrome associated malignancies: Risk, pathogenesis and endoscopic surveillance.
Liu S, Ma Y, You W, Li J, Li JN, Qian JM
J Dig Dis 2021 Aug;22(8):444-451. Epub 2021 Jul 8 doi: 10.1111/1751-2980.13029. PMID: 34145757
Hamartomatous polyposis syndromes: a review.
Jelsig AM, Qvist N, Brusgaard K, Nielsen CB, Hansen TP, Ousager LB
Orphanet J Rare Dis 2014 Jul 15;9:101. doi: 10.1186/1750-1172-9-101. PMID: 25022750Free PMC Article
Genetics of the hamartomatous polyposis syndromes: a molecular review.
Chen HM, Fang JY
Int J Colorectal Dis 2009 Aug;24(8):865-74. Epub 2009 Apr 21 doi: 10.1007/s00384-009-0714-2. PMID: 19381654
Hamartomatous polyposis syndromes.
Calva D, Howe JR
Surg Clin North Am 2008 Aug;88(4):779-817, vii. doi: 10.1016/j.suc.2008.05.002. PMID: 18672141Free PMC Article
Colorectal polyposes: from phenotype to diagnosis.
Jass JR
Pathol Res Pract 2008;204(7):431-47. Epub 2008 Jun 9 doi: 10.1016/j.prp.2008.03.008. PMID: 18541388

Diagnosis

Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance.
Lieberman S, Walsh T, Schechter M, Adar T, Goldin E, Beeri R, Sharon N, Baris H, Ben Avi L, Half E, Lerer I, Shirts BH, Pritchard CC, Tomlinson I, King MC, Levy-Lahad E, Peretz T, Goldberg Y
Gastroenterology 2017 Jun;152(8):1876-1880.e1. Epub 2017 Feb 24 doi: 10.1053/j.gastro.2017.02.014. PMID: 28242209
Hamartomatous polyposis syndromes: a review.
Jelsig AM, Qvist N, Brusgaard K, Nielsen CB, Hansen TP, Ousager LB
Orphanet J Rare Dis 2014 Jul 15;9:101. doi: 10.1186/1750-1172-9-101. PMID: 25022750Free PMC Article
Genetics of the hamartomatous polyposis syndromes: a molecular review.
Chen HM, Fang JY
Int J Colorectal Dis 2009 Aug;24(8):865-74. Epub 2009 Apr 21 doi: 10.1007/s00384-009-0714-2. PMID: 19381654
Hamartomatous polyposis syndromes.
Calva D, Howe JR
Surg Clin North Am 2008 Aug;88(4):779-817, vii. doi: 10.1016/j.suc.2008.05.002. PMID: 18672141Free PMC Article
Colorectal polyposes: from phenotype to diagnosis.
Jass JR
Pathol Res Pract 2008;204(7):431-47. Epub 2008 Jun 9 doi: 10.1016/j.prp.2008.03.008. PMID: 18541388

Prognosis

Genomics of Hereditary Colorectal Cancer: Lessons Learnt from 25 Years of the Singapore Polyposis Registry.
Chew MH, Tan WS, Liu Y, Cheah PY, Loi CT, Tang CL
Ann Acad Med Singap 2015 Aug;44(8):290-6. PMID: 26477961
Hereditary mixed polyposis syndrome--own experience.
Kamocki Z, Piłaszewicz A, Zaręba K
Pol Przegl Chir 2012 May;84(5):262-6. doi: 10.2478/v10035-012-0044-x. PMID: 22763303
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.
Jaeger E, Leedham S, Lewis A, Segditsas S, Becker M, Cuadrado PR, Davis H, Kaur K, Heinimann K, Howarth K; HMPS Collaboration, East J, Taylor J, Thomas H, Tomlinson I
Nat Genet 2012 May 6;44(6):699-703. doi: 10.1038/ng.2263. PMID: 22561515Free PMC Article
Genetics of the hamartomatous polyposis syndromes: a molecular review.
Chen HM, Fang JY
Int J Colorectal Dis 2009 Aug;24(8):865-74. Epub 2009 Apr 21 doi: 10.1007/s00384-009-0714-2. PMID: 19381654
Hamartomatous polyposis syndromes.
Calva D, Howe JR
Surg Clin North Am 2008 Aug;88(4):779-817, vii. doi: 10.1016/j.suc.2008.05.002. PMID: 18672141Free PMC Article

Clinical prediction guides

Genomic landscape of colorectal carcinogenesis.
Kim JC, Bodmer WF
J Cancer Res Clin Oncol 2022 Mar;148(3):533-545. Epub 2022 Jan 20 doi: 10.1007/s00432-021-03888-w. PMID: 35048197
Genomics of Hereditary Colorectal Cancer: Lessons Learnt from 25 Years of the Singapore Polyposis Registry.
Chew MH, Tan WS, Liu Y, Cheah PY, Loi CT, Tang CL
Ann Acad Med Singap 2015 Aug;44(8):290-6. PMID: 26477961
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.
Jaeger E, Leedham S, Lewis A, Segditsas S, Becker M, Cuadrado PR, Davis H, Kaur K, Heinimann K, Howarth K; HMPS Collaboration, East J, Taylor J, Thomas H, Tomlinson I
Nat Genet 2012 May 6;44(6):699-703. doi: 10.1038/ng.2263. PMID: 22561515Free PMC Article
Simple and complex genetics of colorectal cancer susceptibility.
Baglioni S, Genuardi M
Am J Med Genet C Semin Med Genet 2004 Aug 15;129C(1):35-43. doi: 10.1002/ajmg.c.30023. PMID: 15264271
Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q.
Thomas HJ, Whitelaw SC, Cottrell SE, Murday VA, Tomlinson IP, Markie D, Jones T, Bishop DT, Hodgson SV, Sheer D, Northover JM, Talbot IC, Solomon E, Bodmer WF
Am J Hum Genet 1996 Apr;58(4):770-6. PMID: 8644741Free PMC Article

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