Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations

2005 ◽  
Vol 68 (5) ◽  
pp. 442-447 ◽  
Author(s):  
G Ponti ◽  
M Ponz de Leon ◽  
S Maffei ◽  
M Pedroni ◽  
L Losi ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Gene Mutations ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Myh Gene

Variable Phenotypic Expression of Identical MYH Germline Mutations in Siblings with Attenuated Familial Adenomatous Polyposis

2007 ◽  
Vol 73 (12) ◽  
pp. 1250-1253 ◽  
Author(s):  
Mustafa Raoof ◽  
Robert J. Canter ◽  
Philip B. Paty
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Locally Advanced ◽  
Phenotypic Expression ◽  
Clinical Manifestations ◽  
Colon Adenocarcinoma ◽  
Colonic Polyps ◽  
Germline Mutations ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Myh Gene

Germline mutations in the Mutant-Y-homologue (MYH) gene have been linked to an attenuated form of familial adenomatous polyposis in patients who express a wild-type adenomatous polyposis coli gene. However, the diverse clinical manifestations of MYH mutations have not been fully elucidated. We report a case of siblings with identical germline mutations in the MYH gene, one of whom developed a locally advanced colon adenocarcinoma with few other adenomatous lesions, whereas the other had numerous benign colonic polyps. The variable genotype–phenotype manifestations of MYH mutations and the attenuated familial adenomatous polyposis syndrome are discussed.

High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis☆

2004 ◽  
Vol 126 (7) ◽  
pp. 1681-1685 ◽  
Author(s):  
Tiziana Venesio ◽  
Sara Molatore ◽  
Francesca Cattaneo ◽  
Arrigo Arrigoni ◽  
Mauro Risio ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
High Frequency ◽  
Gene Mutations ◽  
Adenomatous Polyposis ◽  
Myh Gene

scholarly journals American Founder Mutation for Attenuated Familial Adenomatous Polyposis

2008 ◽  
Vol 6 (1) ◽  
pp. 46-52 ◽  
Author(s):  
Deborah W. Neklason ◽  
Jeffery Stevens ◽  
Kenneth M. Boucher ◽  
Richard A. Kerber ◽  
Nori Matsunami ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Founder Mutation ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
American Founder

What's New in Hereditary Colorectal Cancer?

2005 ◽  
Vol 129 (11) ◽  
pp. 1380-1384 ◽  
Author(s):  
Jeremy R. Jass
Keyword(s):  
Colorectal Cancer ◽  
Familial Adenomatous Polyposis ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Practical Significance ◽  
Adenomatous Polyposis ◽  
Repair Gene ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Dna Repair Gene ◽  
Hereditary Nonpolyposis ◽  
Revised Bethesda Guidelines

Abstract Precancerous polyposes other than classic familial adenomatous polyposis and the condition hereditary nonpolyposis colorectal cancer, or Lynch syndrome, continue to present major diagnostic challenges for the anatomic pathologist. This editorial highlights the practical significance of novel insights and clinical guidelines in the recent literature, as well as in 4 contributions to this edition of the Archives of Pathology & Laboratory Medicine. The first section will address attenuated familial adenomatous polyposis and a newly recognized type of autosomal-recessive adenomatous polyposis associated with the DNA repair gene MYH. The remainder of the editorial discusses the role of the revised Bethesda guidelines in the diagnosis of hereditary nonpolyposis colorectal cancer and concludes with the recently identified serrated pathway syndrome.

scholarly journals Attenuated familial adenomatous polyposis (AFAP) in a patient associated with a novel mutation in APC

2019 ◽  
Vol 12 (11) ◽  
pp. e231232
Author(s):  
Vivek Sant ◽  
Elsa Reich ◽  
Lauren Khanna ◽  
Wenqing Cao ◽  
Susan Kornacki ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Novel Mutation ◽  
Binding Protein ◽  
Tumour Suppressor ◽  
Colon Polyps ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Protein Inactivation ◽  
Exon 9 ◽  
Apc Mutation

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome associated with mutation in the adenomatous polyposis coli (APC) gene, a tumour suppressor located on chromosome 5q21. Attenuated familial adenomatous polyposis (AFAP) is a variant associated with fewer and later onset of colon polyps. AFAP-associated APC mutations have largely been found before codon 157, in exon 9 or after codon 1595. We present the case of a 44-year-old man incidentally found to have numerous gastric polyps during bariatric surgery, with innumerable polyps in the remaining part of the stomach and the entire colon, with rectal sparing, consistent with AFAP phenotype. Genetic testing demonstrated the c.7682dup (p.Ser2562Lysfs*21) variant in exon 15 of APC. This represents a previously undescribed APC mutation. This mutation likely yields end-binding protein 1 and human disc large binding protein inactivation, causing cell cycle microtubule dysregulation and tumour suppressor inactivation. Through loss of these regulatory mechanisms, this mutation is associated with AFAP phenotype. The patient was treated surgically and is doing well.

scholarly journals Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation

2015 ◽  
Vol 2 (1) ◽  
Author(s):  
Tsuneo Ikenoue ◽  
Kiyoshi Yamaguchi ◽  
Mitsuhiro Komura ◽  
Seiya Imoto ◽  
Rui Yamaguchi ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Apc Mutation
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