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Year Number of Results
2004 1
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2006 5
2007 5
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2011 4
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Page 1
Lynch syndrome and MYH-associated polyposis: review and testing strategy.
Goodenberger M, Lindor NM. Goodenberger M, et al. J Clin Gastroenterol. 2011 Jul;45(6):488-500. doi: 10.1097/MCG.0b013e318206489c. J Clin Gastroenterol. 2011. PMID: 21325953 Review.
Lynch syndrome caused by defects in DNA mismatch repair genes, and diagnostic testing for Lynch syndrome begins with microsatellite instability and immunohistochemical analysis on the tumor specimen followed by germline genetic testing and possibly further studies on the tumor. …
Lynch syndrome caused by defects in DNA mismatch repair genes, and diagnostic testing for Lynch syndrome begins with microsatellite instabil …
Familial adenomatous polyposis.
Galiatsatos P, Foulkes WD. Galiatsatos P, et al. Am J Gastroenterol. 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x. Am J Gastroenterol. 2006. PMID: 16454848 Review.
Multiple colorectal adenomas can also be caused by mutations in the human MutY homologue (MYH) gene, in an autosomal recessive condition referred to as MYH associated polyposis (MAP). Endoscopic screening of FAP probands and relatives is advocated as early as …
Multiple colorectal adenomas can also be caused by mutations in the human MutY homologue (MYH) gene, in an autosomal recessive condition ref …
Familial adenomatous polyposis.
Macrae F, du Sart D, Nasioulas S. Macrae F, et al. Best Pract Res Clin Gastroenterol. 2009;23(2):197-207. doi: 10.1016/j.bpg.2009.02.010. Best Pract Res Clin Gastroenterol. 2009. PMID: 19414146 Free article. Review.
Patients in whom no mutation is identified through this mutation protocol, may be sub-cohorts representing a different FAP pathogenesis including MYH associated polyposis and somatic cell mosaicism for APC gene mutations....
Patients in whom no mutation is identified through this mutation protocol, may be sub-cohorts representing a different FAP pathogenesis incl …
Inherited colorectal cancer syndromes.
Kastrinos F, Syngal S. Kastrinos F, et al. Cancer J. 2011 Nov-Dec;17(6):405-15. doi: 10.1097/PPO.0b013e318237e408. Cancer J. 2011. PMID: 22157284 Free PMC article. Review.
Most colorectal cancer cases diagnosed annually are due to sporadic events, but up to 5% are attributed to known monogenic disorders including Lynch syndrome, familial adenomatous polyposis, MYH-associated polyposis, and the rare hamartomatous polyposis syndr …
Most colorectal cancer cases diagnosed annually are due to sporadic events, but up to 5% are attributed to known monogenic disorders includi …
Prevalence of MYH-associated polyposis related to three recurrent mutations in Morocco.
Laarabi FZ, Cherkaoui Jaouad I, Benazzouz A, Squalli D, Sefiani A. Laarabi FZ, et al. Ann Hum Biol. 2011 May;38(3):360-3. doi: 10.3109/03014460.2010.521520. Epub 2010 Oct 13. Ann Hum Biol. 2011. PMID: 20939750
BACKGROUND: MYH-associated polyposis (MAP) is an autosomal recessive inherited disease. ...Recessively inherited mutations in the base excision repair gene MYH have recently been associated with predisposition to colorectal adenomas and cancer. The epidemiolo …
BACKGROUND: MYH-associated polyposis (MAP) is an autosomal recessive inherited disease. ...Recessively inherited mutati …
Colorectal polyposes: from phenotype to diagnosis.
Jass JR. Jass JR. Pathol Res Pract. 2008;204(7):431-47. doi: 10.1016/j.prp.2008.03.008. Epub 2008 Jun 9. Pathol Res Pract. 2008. PMID: 18541388 Review.
The aim of this review is to highlight the principles and pitfalls in achieving a comprehensive description of the various types of colorectal polyposis, including classical FAP, attenuated FAP, MUTYH- (formerly MYH-) associated polyposis (MAP), other present …
The aim of this review is to highlight the principles and pitfalls in achieving a comprehensive description of the various types of colorect …
Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis.
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. Di Gregorio C, et al. Gastroenterology. 2006 Aug;131(2):439-44. doi: 10.1053/j.gastro.2006.05.049. Gastroenterology. 2006. PMID: 16890597
BACKGROUND & AIMS: MYH-associated polyposis is a recently described, autosomal-recessive disease characterized by multiple colorectal adenomas and cancer. ...Because this pattern of expression seems to be specific for biallelic mutations, it follows that …
BACKGROUND & AIMS: MYH-associated polyposis is a recently described, autosomal-recessive disease characterized by m …
Hereditary Colorectal Cancer Syndromes and Inflammatory Bowel Diseases: an ECCO CONFER Multicentre Case Series.
Barberio B, Savarino E, Verstockt B, Fumery M, Pugliese D, Bertani L, Buda A, Dragoni G, Goren I, Laish I, Spinelli A, Teich N, Truyens M, Ellul P. Barberio B, et al. J Crohns Colitis. 2022 Dec 5;16(12):1845-1852. doi: 10.1093/ecco-jcc/jjac094. J Crohns Colitis. 2022. PMID: 35771951
Sixteen patients had Lynch syndrome, seven had familial adenomatous polyposis [FAP], two had MYH-associated polyposis [MAP], and one had attenuated FAP [AFAP]. ...
Sixteen patients had Lynch syndrome, seven had familial adenomatous polyposis [FAP], two had MYH-associated polyposis [ …
APC, MYH, and the correlation genotype-phenotype in colorectal polyposis.
Lefevre JH, Parc Y, Svrcek M, Kernéis S, Colas C, Shields C, Flejou JF, Parc R, Tiret E. Lefevre JH, et al. Ann Surg Oncol. 2009 Apr;16(4):871-7. doi: 10.1245/s10434-008-0297-0. Epub 2009 Jan 24. Ann Surg Oncol. 2009. PMID: 19169759
BACKGROUND: Familial adenomatous polyposis (FAP) has been divided into two entities: classical (CFAP) and attenuated (AFAP). With the discovery of MYH associated polyposis (MAP) syndrome, the clinical differences have become unclear. ...
BACKGROUND: Familial adenomatous polyposis (FAP) has been divided into two entities: classical (CFAP) and attenuated (AFAP). With the discov …
Can we identify the high-risk patients to be screened? A genetic approach.
Gammon A, Kohlmann W, Burt R. Gammon A, et al. Digestion. 2007;76(1):7-19. doi: 10.1159/000108389. Epub 2007 Oct 19. Digestion. 2007. PMID: 17947814 Review.
Familial adenomatous polyposis will be covered first, followed by Lynch syndrome, attenuated familial adenomatous polyposis, MYH-associated polyposis, hereditary mixed polyposis, and hyperplastic polyposis. ...
Familial adenomatous polyposis will be covered first, followed by Lynch syndrome, attenuated familial adenomatous polyposis, MYH-a …
28 results