Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?

2006 ◽  
Vol 47 (6) ◽  
pp. 811-818 ◽  
Author(s):  
Stefan Aretz ◽  
Arend Koch ◽  
Siegfried Uhlhaas ◽  
Waltraut Friedl ◽  
Peter Propping ◽  
...  
Keyword(s):  
At Risk ◽  
Familial Adenomatous Polyposis ◽  
Germline Mutations ◽  
Adenomatous Polyposis ◽  
Children At Risk

scholarly journals Familial Adenomatous Polyposis—Rendering a Diagnosis Based on Recognition of an Unusual Primary Thyroid Neoplasm

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
David F. Schaeffer ◽  
Eric M. Yoshida ◽  
David A. Owen ◽  
Kenneth W. Berean
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Familial Adenomatous Polyposis ◽  
Thyroid Carcinoma ◽  
Clinical Features ◽  
Germline Mutations ◽  
Initial Diagnosis ◽  
Thyroid Neoplasm ◽  
Adenomatous Polyposis ◽  
Papillary Thyroid ◽  
Cribriform Morular Variant

It has been well established in the literature that the cribriform-morular variant of papillary thyroid carcinoma (CMVPTC) has been observed with higher frequency in familial adenomatous polyposis (FAP) patients. In the usual setting, patients with FAP are identified based on their germline mutations and the diagnosis of thyroid neoplasm is made after the FAP diagnosis. We herein report a case in which the recognition of a CMVPTC led to the initial diagnosis of FAP. The histological and clinical features of CMVPTC are reviewed with emphasis on its relationship to FAP.

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.

Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis

Gene ◽  
2016 ◽  
Vol 577 (2) ◽  
pp. 187-192 ◽  
Author(s):  
Shujie Zhang ◽  
Haisong Qin ◽  
Weigang Lv ◽  
Shiyu Luo ◽  
Jin Wang ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Germline Mutations ◽  
Chinese Patients ◽  
Adenomatous Polyposis

scholarly journals Germline mutations of the APC gene in Korean familial adenomatous polyposis patients

1999 ◽  
Vol 44 (2) ◽  
pp. 103-108 ◽  
Author(s):  
Yong-Jin Won ◽  
Kyu Joo Park ◽  
Hyuk-Joon Kwon ◽  
J.-H. Lee ◽  
J.-H. Kim ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Germline Mutations ◽  
Apc Gene ◽  
Adenomatous Polyposis

Multiple colorectal adenomas, familial adenomatous polyposis and germline mutations in MYH

2003 ◽  
Vol 124 (4) ◽  
pp. A45 ◽  
Author(s):  
Lara Lipton ◽  
Oliver M. Sieber ◽  
Michael Crabtree ◽  
Karl Heinimann ◽  
Paulo Fidalgo ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Germline Mutations ◽  
Colorectal Adenomas ◽  
Adenomatous Polyposis
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