U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Atypical juvenile polyps

MedGen UID:
1677218
•Concept ID:
C5194334
•
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtypical juvenile polyps

Recent clinical studies

Etiology

A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome.
Miyahara Y, Ishida H, Kawabe K, Eto H, Kasai T, Ito T, Kaneko K, Arai M, Kamae N, Momose S, Eguchi H, Okazaki Y
Jpn J Clin Oncol 2020 Jul 9;50(7):826-829. doi: 10.1093/jjco/hyaa059. PMID: 32378721Free PMC Article
The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.
Levi Z, Kariv R, Barnes-Kedar I, Goldberg Y, Half E, Morgentern S, Eli B, Baris HN, Vilkin A, Belfer RG, Niv Y, Elhasid R, Dvir R, Abu-Freha N, Cohen S
Clin Genet 2015 Nov;88(5):474-8. Epub 2014 Nov 10 doi: 10.1111/cge.12518. PMID: 25307252
Clinical and pathological features of hereditary mixed polyposis syndrome: report on a South African family.
Ibirogba SB, Algar U, Goldberg PA, Duffield M, Vorster A, Ramesar R
S Afr J Surg 2008 Aug;46(3):90-2. PMID: 18807306

Diagnosis

The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.
Levi Z, Kariv R, Barnes-Kedar I, Goldberg Y, Half E, Morgentern S, Eli B, Baris HN, Vilkin A, Belfer RG, Niv Y, Elhasid R, Dvir R, Abu-Freha N, Cohen S
Clin Genet 2015 Nov;88(5):474-8. Epub 2014 Nov 10 doi: 10.1111/cge.12518. PMID: 25307252
Singapore familial adenomatous polyposis (FAP) patients with classical adenomatous polyposis but undetectable APC mutations have accelerated cancer progression.
Cao X, Hong Y, Eu KW, Loi C, Cheah PY
Am J Gastroenterol 2006 Dec;101(12):2810-7. Epub 2006 Oct 6 doi: 10.1111/j.1572-0241.2006.00842.x. PMID: 17026565

Clinical prediction guides

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

Supplemental Content

Table of contents

    Practice guidelines

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

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...