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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2002 1
2005 2
2006 1
2007 2
2008 1
2009 1
2010 2
2011 1
2012 2
2013 1
2015 1
2016 1
2017 2
2022 3
2023 3
2024 1

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23 results

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Page 1
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology. Syngal S, et al. Am J Gastroenterol. 2015 Feb;110(2):223-62; quiz 263. doi: 10.1038/ajg.2014.435. Epub 2015 Feb 3. Am J Gastroenterol. 2015. PMID: 25645574 Free PMC article. Review.
When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing …
When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family hi …
Attenuated adenomatous polyposis of the large bowel: Present and future.
Roncucci L, Pedroni M, Mariani F. Roncucci L, et al. World J Gastroenterol. 2017 Jun 21;23(23):4135-4139. doi: 10.3748/wjg.v23.i23.4135. World J Gastroenterol. 2017. PMID: 28694653 Free PMC article.
When removal of polyps is not possible or advanced lesions are observed, the surgical approach is mandatory, being subtotal colectomy with ileo-rectal anastomosis the treatment of choice. ...
When removal of polyps is not possible or advanced lesions are observed, the surgical approach is mandatory, being subtotal colectomy …
Attenuated Familial Adenomatous Polyposis: A Phenotypic Diagnosis but Obsolete Term?
Anele CC, Martin I, McGinty Duggan PM, Chauhan J, Clark SK, Faiz OD, Latchford AR. Anele CC, et al. Dis Colon Rectum. 2022 Apr 1;65(4):529-535. doi: 10.1097/DCR.0000000000002217. Dis Colon Rectum. 2022. PMID: 34775416
BACKGROUND: Attenuated familial adenomatous polyposis is characterised by low number (100) and delayed development of colorectal adenomas. ...OBJECTIVE: We aimed to evaluate phenotypic and genotypic correlation in patients with presumed attenuated …
BACKGROUND: Attenuated familial adenomatous polyposis is characterised by low number (100) and delayed developme …
Strong Hereditary Predispositions to Colorectal Cancer.
Hryhorowicz S, Kaczmarek-Ryś M, Lis-Tanaś E, Porowski J, Szuman M, Grot N, Kryszczyńska A, Paszkowski J, Banasiewicz T, Pławski A. Hryhorowicz S, et al. Genes (Basel). 2022 Dec 10;13(12):2326. doi: 10.3390/genes13122326. Genes (Basel). 2022. PMID: 36553592 Free PMC article. Review.
Cancer is one of the most common causes of death worldwide. A strong predisposition to cancer is generally only observed in colorectal cancer (5% of cases) and breast cancer (2% of cases). Colorectal cancer is the most common cancer with a strong genetic predisposition, bu …
Cancer is one of the most common causes of death worldwide. A strong predisposition to cancer is generally only observed in colorecta …
Attenuated polyposis of the large bowel: a morphologic and molecular approach.
de Leon MP, Pedroni M, Roncucci L, Domati F, Rossi G, Magnani G, Pezzi A, Fante R, Bonetti LR. de Leon MP, et al. Fam Cancer. 2017 Apr;16(2):211-220. doi: 10.1007/s10689-016-9938-9. Fam Cancer. 2017. PMID: 27783336 Free article.
Attenuated polyposis could be defined as a variant of familial adenomatous polyposis (FAP) in which synchronous polyps of the large bowel range between 10 and 99. We analysed all cases of attenuated polyposis observed over the last 30 years with the objectives: (A) to clas …
Attenuated polyposis could be defined as a variant of familial adenomatous polyposis (FAP) in which synchronous polyps of the large bowel ra …
Hepatocelluar carcinoma associated with attenuated familial adenomatous polyposis: a case report and review of the literature.
Li M, Gerber DA, Koruda M, O'Neil BH. Li M, et al. Clin Colorectal Cancer. 2012 Mar;11(1):77-81. doi: 10.1016/j.clcc.2011.05.007. Epub 2011 Aug 2. Clin Colorectal Cancer. 2012. PMID: 21813337 Free PMC article. Review.
The patient possessed a single nucleotide mutation in the noncoding region after exon 4, which is rarely observed in attenuated FAP, and not previously reported in classic FAP-associated HCC. ...
The patient possessed a single nucleotide mutation in the noncoding region after exon 4, which is rarely observed in attenuated FAP, …
Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation.
Ionescu DN, Papachristou G, Schoen RE, Hedge M, Richards CS, Monzon FA. Ionescu DN, et al. Arch Pathol Lab Med. 2005 Nov;129(11):1401-4. doi: 10.5858/2005-129-1401-AFAPAC. Arch Pathol Lab Med. 2005. PMID: 16253019 Free article.
The relative location of the mutation may be associated with the number of polyps and partially predicts specific phenotypic expression. Mutations associated with the attenuated phenotype are found predominantly in the 5' region of the gene or in the last third. ...
The relative location of the mutation may be associated with the number of polyps and partially predicts specific phenotypic expressi …
Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.
Nieminen TT, Pavicic W, Porkka N, Kankainen M, Järvinen HJ, Lepistö A, Peltomäki P. Nieminen TT, et al. Oncotarget. 2016 Oct 25;7(43):70685-70698. doi: 10.18632/oncotarget.12206. Oncotarget. 2016. PMID: 27683109 Free PMC article.
The respective intronic mutations were absent in the remaining polyposis families and the general population. Premature stop of translation as the predicted consequence as well as co-segregation with polyposis supported the pathogenicity of the pseudoexons. ...
The respective intronic mutations were absent in the remaining polyposis families and the general population. Premature stop of translation …
Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics.
Bouguen G, Manfredi S, Blayau M, Dugast C, Buecher B, Bonneau D, Siproudhis L, David V, Bretagne JF. Bouguen G, et al. Dis Colon Rectum. 2007 Oct;50(10):1612-7. doi: 10.1007/s10350-007-9027-0. Dis Colon Rectum. 2007. PMID: 17674103
Ten of 11 patients underwent colectomy. CONCLUSIONS: MYH mutations have been observed in one-third of patients with attenuated polyposis. The phenotype of the disease is similar to attenuated familial adenomatous polyposis. ...
Ten of 11 patients underwent colectomy. CONCLUSIONS: MYH mutations have been observed in one-third of patients with attenuated polypo …
Attenuated familial adenomatous polyposis associated with advanced rectal cancer in a 16-year-old boy: report of a case.
Matsuo S, Eguchi S, Azuma T, Hidaka M, Yamaguchi S, Hayashi T, Kohara N, Kanematsu T. Matsuo S, et al. Surg Today. 2001;31(11):1020-3. doi: 10.1007/s005950170016. Surg Today. 2001. PMID: 11766074
We herein present a case of attenuated familial adenomatous polyposis (AFAP) with advanced rectal cancer in a 16-year-old boy. ...The other colorectal polyps were tubular adenomas with no evidence of malignancy. Germline mutations in the APC gene were …
We herein present a case of attenuated familial adenomatous polyposis (AFAP) with advanced rectal cancer in a 16 …
23 results