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MYH-associated polyposis(FAP2)

MedGen UID:
332993
Concept ID:
C1837991
Disease or Syndrome
Synonyms: ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; FAMILIAL ADENOMATOUS POLYPOSIS, 2; FAP type 2; FAP2; MUTYH-Associated Polyposis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: MUTYH
Cytogenetic location: 1p34.1
OMIM®: 608456
Orphanet: ORPHA247798

Disease characteristics

Excerpted from the GeneReview: MUTYH-Associated Polyposis
MUTYH-associated polyposis (MAP), caused by biallelic mutations in MUTYH, is characterized by a greatly increased lifetime risk of colorectal cancer (CRC) (43% to almost 100% in the absence of timely surveillance). Although typically associated with ten to a few hundred colonic adenomatous polyps that are evident at a mean age of about 50 years, colonic cancer develops in some individuals with biallelic MUTYH mutations in the absence of polyposis. Duodenal adenomas are found in 17%-25% of individuals with MAP; the lifetime risk of duodenal cancer is about 4%. Also noted are a modestly increased risk for rather late-onset malignancies of the ovary, bladder, and skin, and some evidence for an increased risk for breast and endometrial cancer. More recently, thyroid abnormalities (multinodular goiter, single nodules, and papillary thyroid cancer) have been reported in some studies. Some affected individuals develop sebaceous gland tumors. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Randall Brand  |  Maartje Nielsen  |  Henry Lynch, et. al.   view full author information

Additional descriptions

From OMIM
Autosomal recessive colorectal adenomatous polyposis is a disorder characterized by adult-onset of multiple colorectal adenomas and adenomatous polyposis. Affected individuals have a significantly increased risk of colorectal cancer (summary by Sieber et al., 2003). Cheadle and Sampson (2003) reviewed the molecular pathology and biochemistry of MYH colonic polyposis. See also familial adenomatous polyposis-1 (FAP1; 175100) and attenuated FAP, similar disorders showing autosomal dominant inheritance and caused by mutation in the APC gene (611731) on chromosome 5q.  http://www.omim.org/entry/608456
From GHR
Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years. In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome. A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.  http://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis

Clinical features

Adenomatous colonic polyposis
MedGen UID:
358118
Concept ID:
C1868071
Finding
Colon cancer
MedGen UID:
446464
Concept ID:
CN002715
Finding
Adenomatous colonic polyposis
MedGen UID:
358118
Concept ID:
C1868071
Finding
Colon cancer
MedGen UID:
446464
Concept ID:
CN002715
Finding

Professional guidelines

PubMed

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article
Aretz S, Hes FJ
Eur J Hum Genet 2010 Sep;18(9) Epub 2010 May 26 doi: 10.1038/ejhg.2010.77. [Epub ahead of print] PMID: 20512164Free PMC Article

Recent clinical studies

Etiology

Hegde M, Ferber M, Mao R, Samowitz W, Ganguly A; Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee
Genet Med 2014 Jan;16(1):101-16. Epub 2013 Dec 5 doi: 10.1038/gim.2013.166. [Epub ahead of print] PMID: 24310308
Goodenberger M, Lindor NM
J Clin Gastroenterol 2011 Jul;45(6):488-500. doi: 10.1097/MCG.0b013e318206489c. PMID: 21325953
Laarabi FZ, Cherkaoui Jaouad I, Benazzouz A, Squalli D, Sefiani A
Ann Hum Biol 2011 May;38(3):360-3. Epub 2010 Oct 13 doi: 10.3109/03014460.2010.521520. [Epub ahead of print] PMID: 20939750
Lindor NM
Best Pract Res Clin Gastroenterol 2009;23(1):75-87. doi: 10.1016/j.bpg.2008.11.013. PMID: 19258188
Boparai KS, Dekker E, Van Eeden S, Polak MM, Bartelsman JF, Mathus-Vliegen EM, Keller JJ, van Noesel CJ
Gastroenterology 2008 Dec;135(6):2014-8. Epub 2008 Sep 20 doi: 10.1053/j.gastro.2008.09.020. [Epub ahead of print] PMID: 19013464

Diagnosis

Hegde M, Ferber M, Mao R, Samowitz W, Ganguly A; Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee
Genet Med 2014 Jan;16(1):101-16. Epub 2013 Dec 5 doi: 10.1038/gim.2013.166. [Epub ahead of print] PMID: 24310308
Bolocan A, Ion D, Stoian RV, Serban MB
J Med Life 2011 Jan-Mar;4(1):109-11. Epub 2011 Feb 25 PMID: 21505584Free PMC Article
Goodenberger M, Lindor NM
J Clin Gastroenterol 2011 Jul;45(6):488-500. doi: 10.1097/MCG.0b013e318206489c. PMID: 21325953
Laarabi FZ, Cherkaoui Jaouad I, Benazzouz A, Squalli D, Sefiani A
Ann Hum Biol 2011 May;38(3):360-3. Epub 2010 Oct 13 doi: 10.3109/03014460.2010.521520. [Epub ahead of print] PMID: 20939750
Prior TW, Bridgeman SJ
Curr Protoc Hum Genet 2010 Jan;Chapter 10:Unit 10.13. doi: 10.1002/0471142905.hg1013s64. PMID: 20063264

Therapy

Lynch PM
Digestion 2007;76(1):68-76. Epub 2007 Oct 19 doi: 10.1159/000108395. [Epub ahead of print] PMID: 17947820
Sulová M, Zídková K, Kleibl Z, Stekrová J, Kebrdlová V, Bortlík M, Lukás M, Kohoutová M
Eur J Cancer 2007 Jul;43(10):1617-21. Epub 2007 May 23 doi: 10.1016/j.ejca.2007.04.010. [Epub ahead of print] PMID: 17524638

Prognosis

Kastrinos F, Syngal S
Cancer J 2011 Nov-Dec;17(6):405-15. doi: 10.1097/PPO.0b013e318237e408. PMID: 22157284Free PMC Article
Macrae F, du Sart D, Nasioulas S
Best Pract Res Clin Gastroenterol 2009;23(2):197-207. doi: 10.1016/j.bpg.2009.02.010. PMID: 19414146
O'Shea AM, Cleary SP, Croitoru MA, Kim H, Berk T, Monga N, Riddell RH, Pollett A, Gallinger S
Histopathology 2008 Aug;53(2):184-94. Epub 2008 Jun 28 doi: 10.1111/j.1365-2559.2008.03071.x. [Epub ahead of print] PMID: 18564191Free PMC Article
Kastrinos F, Syngal S
Semin Oncol 2007 Oct;34(5):418-24. doi: 10.1053/j.seminoncol.2007.07.005. PMID: 17920897Free PMC Article
Kanter-Smoler G, Björk J, Fritzell K, Engwall Y, Hallberg B, Karlsson G, Grönberg H, Karlsson P, Wallgren A, Wahlström J, Hultcrantz R, Nordling M
Clin Gastroenterol Hepatol 2006 Apr;4(4):499-506. doi: 10.1016/j.cgh.2006.01.005. PMID: 16616356

Clinical prediction guides

Kastrinos F, Syngal S
Cancer J 2011 Nov-Dec;17(6):405-15. doi: 10.1097/PPO.0b013e318237e408. PMID: 22157284Free PMC Article
Prior TW, Bridgeman SJ
Curr Protoc Hum Genet 2010 Jan;Chapter 10:Unit 10.13. doi: 10.1002/0471142905.hg1013s64. PMID: 20063264
O'Shea AM, Cleary SP, Croitoru MA, Kim H, Berk T, Monga N, Riddell RH, Pollett A, Gallinger S
Histopathology 2008 Aug;53(2):184-94. Epub 2008 Jun 28 doi: 10.1111/j.1365-2559.2008.03071.x. [Epub ahead of print] PMID: 18564191Free PMC Article
Di Gregorio C, Frattini M, Maffei S, Ponti G, Losi L, Pedroni M, Venesio T, Bertario L, Varesco L, Risio M, Ponz de Leon M
Gastroenterology 2006 Aug;131(2):439-44. doi: 10.1053/j.gastro.2006.05.049. PMID: 16890597
Leite JS, Isidro G, Martins M, Regateiro F, Albuquerque O, Amaro P, Romãozinho JM, Boavida G, Castro-Sousa F
Colorectal Dis 2005 Jul;7(4):327-31. doi: 10.1111/j.1463-1318.2005.00811.x. PMID: 15932553

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