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Polyposis syndrome, hereditary mixed, 1(HMPS1; CRAC1)

MedGen UID:
331320
•Concept ID:
C1832587
•
Disease or Syndrome
Synonyms: CHROMOSOME 15q13-q14 DUPLICATION SYNDROME, 40-KB; COLORECTAL ADENOMA AND CARCINOMA 1
 
Monarch Initiative: MONDO:0042486
OMIM®: 601228

Definition

The hereditary mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas (CRC). Genetic Heterogeneity of Hereditary Mixed Polyposis HMPS2 (610069) is caused by mutation in the BMPR1A gene (601299) on chromosome 10q23. [from OMIM]

Clinical features

From HPO
Abnormal abdomen morphology
MedGen UID:
866551
•Concept ID:
C4020869
•
Anatomical Abnormality
A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
See: Feature record | Search on this feature

Professional guidelines

PubMed

The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes.
Aretz S
Dtsch Arztebl Int 2010 Mar;107(10):163-73. Epub 2010 Mar 12 doi: 10.3238/arztebl.2010.0163. PMID: 20358032Free PMC Article
Diagnosis and management of gastrointestinal polyps: pediatric considerations.
Attard TM, Young RJ
Gastroenterol Nurs 2006 Jan-Feb;29(1):16-22; quiz 23-4. doi: 10.1097/00001610-200601000-00003. PMID: 16552295

Curated

UK NICE Clinical Guideline CG118, Colorectal cancer prevention: colonoscopic surveillance in adults with ulcerative colitis, Crohn's disease or adenomas, 2022

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

Establishment of a novel prognostic signature based on an identified expression profile of integrin superfamily to predict overall survival of patients with colorectal adenocarcinoma.
Yu J, Yang K, Zheng J, Sun X, Zhao W
Gene 2022 Jan 15;808:145990. Epub 2021 Oct 5 doi: 10.1016/j.gene.2021.145990. PMID: 34624456
Effects of supplemental calcium and vitamin D on tight-junction proteins and mucin-12 expression in the normal rectal mucosa of colorectal adenoma patients.
Mandle HB, Jahan FA, Bostick RM, Baron JA, Barry EL, Yacoub R, Merrill J, Rutherford RE, Seabrook ME, Fedirko V
Mol Carcinog 2019 Jul;58(7):1279-1290. Epub 2019 Apr 2 doi: 10.1002/mc.23010. PMID: 30938860Free PMC Article
Detection of phosphorylated insulin receptor in colorectal adenoma and adenocarcinoma: implications for prognosis and clinical outcome.
Abbruzzese C, Diodoro MG, Sperduti I, Mileo AM, Pattaro G, De Salvo L, Cosimelli M, Perrotti N, Paggi MG
J Cell Physiol 2015 Mar;230(3):562-7. doi: 10.1002/jcp.24733. PMID: 25102778
Clinical subtypes and molecular characteristics of serrated polyposis syndrome.
Guarinos C, Sánchez-Fortún C, Rodríguez-Soler M, Pérez-Carbonell L, Egoavil C, Juárez M, Serradesanferm A, Bujanda L, Fernández-Bañares F, Cubiella J, de-Castro L, Guerra A, Aguirre E, Herreros-de-Tejada A, Bessa X, Herráiz M, Marín-Gabriel JC, Balmaña J, Cuatrecasas M, Balaguer F, Castells A, Soto JL, Alenda C, Payá A, Jover R
Clin Gastroenterol Hepatol 2013 Jun;11(6):705-11; quiz e46. Epub 2013 Jan 30 doi: 10.1016/j.cgh.2012.12.045. PMID: 23376323
Impact of medical therapies on inflammatory bowel disease complication rate.
Reenaers C, Belaiche J, Louis E
World J Gastroenterol 2012 Aug 7;18(29):3823-7. doi: 10.3748/wjg.v18.i29.3823. PMID: 22876033Free PMC Article

Diagnosis

Clinical subtypes and molecular characteristics of serrated polyposis syndrome.
Guarinos C, Sánchez-Fortún C, Rodríguez-Soler M, Pérez-Carbonell L, Egoavil C, Juárez M, Serradesanferm A, Bujanda L, Fernández-Bañares F, Cubiella J, de-Castro L, Guerra A, Aguirre E, Herreros-de-Tejada A, Bessa X, Herráiz M, Marín-Gabriel JC, Balmaña J, Cuatrecasas M, Balaguer F, Castells A, Soto JL, Alenda C, Payá A, Jover R
Clin Gastroenterol Hepatol 2013 Jun;11(6):705-11; quiz e46. Epub 2013 Jan 30 doi: 10.1016/j.cgh.2012.12.045. PMID: 23376323

Therapy

Effects of supplemental calcium and vitamin D on tight-junction proteins and mucin-12 expression in the normal rectal mucosa of colorectal adenoma patients.
Mandle HB, Jahan FA, Bostick RM, Baron JA, Barry EL, Yacoub R, Merrill J, Rutherford RE, Seabrook ME, Fedirko V
Mol Carcinog 2019 Jul;58(7):1279-1290. Epub 2019 Apr 2 doi: 10.1002/mc.23010. PMID: 30938860Free PMC Article
Efficient drug delivery and induction of apoptosis in colorectal tumors using a death receptor 5-targeted nanomedicine.
Schmid D, Fay F, Small DM, Jaworski J, Riley JS, Tegazzini D, Fenning C, Jones DS, Johnston PG, Longley DB, Scott CJ
Mol Ther 2014 Dec;22(12):2083-2092. Epub 2014 Jul 23 doi: 10.1038/mt.2014.137. PMID: 25200008Free PMC Article
Impact of medical therapies on inflammatory bowel disease complication rate.
Reenaers C, Belaiche J, Louis E
World J Gastroenterol 2012 Aug 7;18(29):3823-7. doi: 10.3748/wjg.v18.i29.3823. PMID: 22876033Free PMC Article

Prognosis

Establishment of a novel prognostic signature based on an identified expression profile of integrin superfamily to predict overall survival of patients with colorectal adenocarcinoma.
Yu J, Yang K, Zheng J, Sun X, Zhao W
Gene 2022 Jan 15;808:145990. Epub 2021 Oct 5 doi: 10.1016/j.gene.2021.145990. PMID: 34624456
Detection of phosphorylated insulin receptor in colorectal adenoma and adenocarcinoma: implications for prognosis and clinical outcome.
Abbruzzese C, Diodoro MG, Sperduti I, Mileo AM, Pattaro G, De Salvo L, Cosimelli M, Perrotti N, Paggi MG
J Cell Physiol 2015 Mar;230(3):562-7. doi: 10.1002/jcp.24733. PMID: 25102778
Impact of medical therapies on inflammatory bowel disease complication rate.
Reenaers C, Belaiche J, Louis E
World J Gastroenterol 2012 Aug 7;18(29):3823-7. doi: 10.3748/wjg.v18.i29.3823. PMID: 22876033Free PMC Article

Clinical prediction guides

Establishment of a novel prognostic signature based on an identified expression profile of integrin superfamily to predict overall survival of patients with colorectal adenocarcinoma.
Yu J, Yang K, Zheng J, Sun X, Zhao W
Gene 2022 Jan 15;808:145990. Epub 2021 Oct 5 doi: 10.1016/j.gene.2021.145990. PMID: 34624456
Two critical positions in zinc finger domains are heavily mutated in three human cancer types.
Munro D, Ghersi D, Singh M
PLoS Comput Biol 2018 Jun;14(6):e1006290. Epub 2018 Jun 28 doi: 10.1371/journal.pcbi.1006290. PMID: 29953437Free PMC Article
Detection of phosphorylated insulin receptor in colorectal adenoma and adenocarcinoma: implications for prognosis and clinical outcome.
Abbruzzese C, Diodoro MG, Sperduti I, Mileo AM, Pattaro G, De Salvo L, Cosimelli M, Perrotti N, Paggi MG
J Cell Physiol 2015 Mar;230(3):562-7. doi: 10.1002/jcp.24733. PMID: 25102778

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2022
      UK NICE Clinical Guideline CG118, Colorectal cancer prevention: colonoscopic surveillance in adults with ulcerative colitis, Crohn's disease or adenomas, 2022

    Consumer resources

    Reviews

    Related information

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      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
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    • PMC Articles
      Related information in PubMed Central Links
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