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MYH-associated polyposis(FAP2)

MedGen UID:
474474
Concept ID:
C3272841
Neoplastic Process
Synonyms: ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; FAP type 2; FAP2; MUTYH-associated polyposis
 
Gene (location): MUTYH (1p34.1)
 
Monarch Initiative: MONDO:0012041
OMIM®: 608456
Orphanet: ORPHA247798

Disease characteristics

Excerpted from the GeneReview: MUTYH Polyposis
MUTYH polyposis (also referred to as MUTYH-associated polyposis, or MAP) is characterized by a greatly increased lifetime risk of colorectal cancer (CRC). Although typically associated with ten to a few hundred colonic adenomatous polyps, CRC develops in some individuals in the absence of polyposis. Serrated adenomas, hyperplastic/sessile serrated polyps, and mixed (hyperplastic and adenomatous) polyps can also occur. Duodenal adenomas are common, with an increased risk of duodenal cancer. The risk for malignancies of the ovary and bladder is also increased, and there is some evidence of an increased risk for breast and endometrial cancer. Additional reported features include thyroid nodules, benign adrenal lesions, jawbone cysts, and congenital hypertrophy of the retinal pigment epithelium. [from GeneReviews]
Authors:
Maartje Nielsen  |  Elena Infante  |  Randall Brand   view full author information

Additional description

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. For a discussion of genetic heterogeneity of FAP, see 175100.  http://www.omim.org/entry/608456

Professional guidelines

PubMed

Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology.
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
Stoffel EM, Mangu PB, Gruber SB, Hamilton SR, Kalady MF, Lau MW, Lu KH, Roach N, Limburg PJ; American Society of Clinical Oncology.; European Society of Clinical Oncology.
J Clin Oncol 2015 Jan 10;33(2):209-17. Epub 2014 Dec 1 doi: 10.1200/JCO.2014.58.1322. PMID: 25452455Free PMC Article
Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee.
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. PMID: 25394175
ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
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. PMID: 24310308
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. 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. PMID: 20512164Free PMC Article

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

ACMG SF v3.0, 2021

Suggested Reading

Recent clinical studies

Etiology

Church J, Kravochuck S
Dis Colon Rectum 2016 Jun;59(6):565-9. doi: 10.1097/DCR.0000000000000575. PMID: 27145315
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. 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. PMID: 20939750
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

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. 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. PMID: 20939750
Ajith Kumar VK, Gold JA, Mallon E, Thomas S, Hodgson SV
Fam Cancer 2008;7(2):187-9. Epub 2007 Sep 15 doi: 10.1007/s10689-007-9161-9. PMID: 17874208
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

Therapy

Church J, Kravochuck S
Dis Colon Rectum 2016 Jun;59(6):565-9. doi: 10.1097/DCR.0000000000000575. PMID: 27145315
Lynch PM
Digestion 2007;76(1):68-76. Epub 2007 Oct 19 doi: 10.1159/000108395. PMID: 17947820

Prognosis

Kidambi TD, Goldberg D, Nussbaum R, Blanco A, Umetsu SE, Terdiman JP, Lee JK
Clin J Gastroenterol 2018 Dec;11(6):457-460. Epub 2018 May 15 doi: 10.1007/s12328-018-0870-4. PMID: 29766397Free PMC Article
Church J, Kravochuck S
Dis Colon Rectum 2016 Jun;59(6):565-9. doi: 10.1097/DCR.0000000000000575. PMID: 27145315
Kastrinos F, Syngal S
Cancer J 2011 Nov-Dec;17(6):405-15. doi: 10.1097/PPO.0b013e318237e408. PMID: 22157284Free PMC Article
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. PMID: 18564191Free 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

Kidambi TD, Goldberg D, Nussbaum R, Blanco A, Umetsu SE, Terdiman JP, Lee JK
Clin J Gastroenterol 2018 Dec;11(6):457-460. Epub 2018 May 15 doi: 10.1007/s12328-018-0870-4. PMID: 29766397Free 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. 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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