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Year Number of Results
1998 1
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2000 6
2001 6
2002 2
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2005 3
2007 3
2008 1
2009 8
2010 8
2011 4
2012 2
2013 1
2017 3
2020 3
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2023 1
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60 results

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Page 1
Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?
Rebuzzi F, Ulivi P, Tedaldi G. Rebuzzi F, et al. Int J Mol Sci. 2023 Jan 21;24(3):2137. doi: 10.3390/ijms24032137. Int J Mol Sci. 2023. PMID: 36768460 Free PMC article. Review.
However, some other genetic disorders confer an increased risk of colorectal cancer, such as Li-Fraumeni syndrome (TP53 gene), MUTYH-associated polyposis (MUTYH gene), Peutz-Jeghers syndrome (STK11 gene), Cowden syndrome (PTEN gene), and juvenile polyposis syndrome (BMPR1A and …
However, some other genetic disorders confer an increased risk of colorectal cancer, such as Li-Fraumeni syndrome (TP53 gene), MUTYH-associa …
Germline variant testing in serrated polyposis syndrome.
Murphy A, Solomons J, Risby P, Gabriel J, Bedenham T, Johnson M, Atkinson N, Bailey AA, Bird-Lieberman E, Leedham SJ, East JE, Biswas S. Murphy A, et al. J Gastroenterol Hepatol. 2022 May;37(5):861-869. doi: 10.1111/jgh.15791. Epub 2022 Feb 18. J Gastroenterol Hepatol. 2022. PMID: 35128723 Free PMC article.
The majority were tested for a hereditary colorectal cancer panel including MUTYH, APC, PTEN, SMAD4, BMPR1A, STK11, NTLH1, POLD1, POLE, GREM1 (40-kb duplication), PMS2, and Lynch syndrome mismatch repair genes. ...Seventy-three patients underwent genetic testing and 15/73 …
The majority were tested for a hereditary colorectal cancer panel including MUTYH, APC, PTEN, SMAD4, BMPR1A, STK11, NTLH1, POLD1, POL …
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA. Gallione CJ, et al. Lancet. 2004 Mar 13;363(9412):852-9. doi: 10.1016/S0140-6736(04)15732-2. Lancet. 2004. PMID: 15031030
The former, an inherited gastrointestinal malignancy predisposition, is caused by mutations in MADH4 (encoding SMAD4) or BMPR1A, and the latter is a vascular malformation disorder caused by mutations in ENG (endoglin) or ACVRL1 (ALK1). ...Findings No patient had mut …
The former, an inherited gastrointestinal malignancy predisposition, is caused by mutations in MADH4 (encoding SMAD4) or BMPR1 …
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
Howe JR, Sayed MG, Ahmed AF, Ringold J, Larsen-Haidle J, Merg A, Mitros FA, Vaccaro CA, Petersen GM, Giardiello FM, Tinley ST, Aaltonen LA, Lynch HT. Howe JR, et al. J Med Genet. 2004 Jul;41(7):484-91. doi: 10.1136/jmg.2004.018598. J Med Genet. 2004. PMID: 15235019 Free PMC article.
The latter three genes were analysed when MADH4 and BMPR1A sequencing found no mutations. RESULTS: Germline MADH4 mutations were found in 14 cases (18.2%) and BMPR1A mutations in 16 cases (20.8%). No mutations were found in BMPR1B, BMPR2, or ACVR1 in 32 MADH4 …
The latter three genes were analysed when MADH4 and BMPR1A sequencing found no mutations. RESULTS: Germline MADH4 mutations we …
Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood.
Achatz MI, Porter CC, Brugières L, Druker H, Frebourg T, Foulkes WD, Kratz CP, Kuiper RP, Hansford JR, Hernandez HS, Nathanson KL, Kohlmann WK, Doros L, Onel K, Schneider KW, Scollon SR, Tabori U, Tomlinson GE, Evans DGR, Plon SE. Achatz MI, et al. Clin Cancer Res. 2017 Jul 1;23(13):e107-e114. doi: 10.1158/1078-0432.CCR-17-0790. Clin Cancer Res. 2017. PMID: 28674119 Review.
These disorders include adenomatous polyposis syndromes (APC and MUTYH), juvenile polyposis coli (BMPR1A and SMAD4), Peutz-Jeghers Syndrome (STK11/LKB1), and PTEN hamartoma tumor syndrome (PHTS; PTEN), which can present with a more limited juvenile polyposis phenotype. ...
These disorders include adenomatous polyposis syndromes (APC and MUTYH), juvenile polyposis coli (BMPR1A and SMAD4), Peutz-Jeghers Sy …
A review of juvenile polyposis syndrome.
Chow E, Macrae F. Chow E, et al. J Gastroenterol Hepatol. 2005 Nov;20(11):1634-40. doi: 10.1111/j.1440-1746.2005.03865.x. J Gastroenterol Hepatol. 2005. PMID: 16246179 Review.
Juvenile Polyposis Syndrome is an uncommon hamartomatous disorder with significant gastrointestinal malignant potential. Mutations in SMAD4 and BMPR1A, implicated in the Transforming Growth Factor beta pathway, have recently been characterized, and hold significance in the …
Juvenile Polyposis Syndrome is an uncommon hamartomatous disorder with significant gastrointestinal malignant potential. Mutations in SMA …
Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review.
Gao XH, Li J, Zhao ZY, Xu XD, Du YQ, Yan HL, Liu LJ, Bai CG, Zhang W. Gao XH, et al. BMC Gastroenterol. 2020 Jun 1;20(1):167. doi: 10.1186/s12876-020-01238-7. BMC Gastroenterol. 2020. PMID: 32487124 Free PMC article. Review.
BACKGROUND: Juvenile polyposis syndrome (JPS) is a rare disorder characterized by the presence of multiple juvenile polyps in the gastrointestinal tract, and germline mutations in SMAD4 or BMPR1A. Due to its rarity and complex clinical manifestation, misdiagnosis often occ …
BACKGROUND: Juvenile polyposis syndrome (JPS) is a rare disorder characterized by the presence of multiple juvenile polyps in the gastrointe …
Role of Smad4 (DPC4) inactivation in human cancer.
Miyaki M, Kuroki T. Miyaki M, et al. Biochem Biophys Res Commun. 2003 Jul 11;306(4):799-804. doi: 10.1016/s0006-291x(03)01066-0. Biochem Biophys Res Commun. 2003. PMID: 12821112 Review.
This review summarizes the mutational events of the Smad4 gene in human cancer. The Smad4 gene is genetically responsible for familial juvenile polyposis, an autosomal dominant disease characterized by predisposition to gastrointestinal polyps and cancer. ...However …
This review summarizes the mutational events of the Smad4 gene in human cancer. The Smad4 gene is genetically responsible for …
Gastrointestinal tumorigenesis in Smad4 (Dpc4) mutant mice.
Taketo MM, Takaku K. Taketo MM, et al. Hum Cell. 2000 Sep;13(3):85-95. Hum Cell. 2000. PMID: 11197776 Review.
The SMAD4 (Dpc4) gene plays a key role in the TGF-beta signaling pathway. ...These data are consistent with the reports that a subset of human juvenile polyposis kindreds carry germline mutations in the SMAD4 gene. We then introduced the Smad4 mutation into t …
The SMAD4 (Dpc4) gene plays a key role in the TGF-beta signaling pathway. ...These data are consistent with the reports that a subset …
Genetic testing in colorectal cancer: who, when, how and why.
Davidson NO. Davidson NO. Keio J Med. 2007 Mar;56(1):14-20. doi: 10.2302/kjm.56.14. Keio J Med. 2007. PMID: 17392593 Free article. Review.
These include Peutz-Jeghers syndrome, which is linked to mutations in STK11/LKB and Juvenile polyposis, which is linked to mutations in the genes encoding SMAD4 and BMPR1A. In addition to these high penetrance autosomal dominant alleles, recessive mutations in the MYH mism …
These include Peutz-Jeghers syndrome, which is linked to mutations in STK11/LKB and Juvenile polyposis, which is linked to mutations in the …
60 results