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2000 1
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2022 6
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19 results

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A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
Mighell TL, Evans-Dutson S, O'Roak BJ. Mighell TL, et al. Am J Hum Genet. 2018 May 3;102(5):943-955. doi: 10.1016/j.ajhg.2018.03.018. Epub 2018 Apr 26. Am J Hum Genet. 2018. PMID: 29706350 Free PMC article.
Phosphatase and tensin homolog (PTEN) is a tumor suppressor frequently mutated in diverse cancers. Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) and au …
Phosphatase and tensin homolog (PTEN) is a tumor suppressor frequently mutated in diverse cancers. Germline PTEN mutati …
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Pilarski R, et al. J Natl Cancer Inst. 2013 Nov 6;105(21):1607-16. doi: 10.1093/jnci/djt277. Epub 2013 Oct 17. J Natl Cancer Inst. 2013. PMID: 24136893 Review.
BACKGROUND: PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders caused by mutations in the phosphatase and tensin homolog (PTEN) gene. Diagnostic criteria for Cowden syndrome, the principal PTEN-related disorder, …
BACKGROUND: PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders caused by mutations in the ph …
PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol.
Ngeow J, Eng C. Ngeow J, et al. Methods. 2015 May;77-78:11-9. doi: 10.1016/j.ymeth.2014.10.011. Epub 2014 Oct 22. Methods. 2015. PMID: 25461771 Review.
The tumor suppressor phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is an important phosphatase that counteracts one of the most critical cancer pathways: the phosphatidylinositol 3-kinase (PI3K)/AKT signaling pathways. ...In this review, we highligh …
The tumor suppressor phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is an important phosphatase that counterac …
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.
Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A; PTEN Study Group; Mensenkamp AR, Vos JR. Hendricks LAJ, et al. Eur J Med Genet. 2022 Dec;65(12):104632. doi: 10.1016/j.ejmg.2022.104632. Epub 2022 Oct 18. Eur J Med Genet. 2022. PMID: 36270489 Free article.
BACKGROUND: Pathogenic PTEN germline variants cause PTEN Hamartoma Tumor Syndrome (PHTS), a rare disease with a variable genotype and phenotype. ...CONCLUSION: The PHTS phenotypic diversity may partly be explained by the PTEN variant codi …
BACKGROUND: Pathogenic PTEN germline variants cause PTEN Hamartoma Tumor Syndrome (PHTS), a rare disease …
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 limite …
These disorders include adenomatous polyposis syndromes (APC and MUTYH), juvenile polyposis coli (BMPR1A and SMAD4), Peutz-Jeghers Syndro …
Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ. Boland CR, et al. Gastroenterology. 2022 Jun;162(7):2063-2085. doi: 10.1053/j.gastro.2022.02.021. Epub 2022 Apr 26. Gastroenterology. 2022. PMID: 35487791
The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PT …
The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign an …
Hereditary colorectal cancer: risk assessment and management.
Hampel H, Peltomaki P. Hampel H, et al. Clin Genet. 2000 Aug;58(2):89-97. doi: 10.1034/j.1399-0004.2000.580201.x. Clin Genet. 2000. PMID: 11005140 Review.
There are at least nine major cancer susceptibility syndromes that infer an increased risk for colorectal cancer and/or colorectal polyposis; hereditary nonpolyposis colorectal cancer syndrome, Muir-Torre syndrome, Turcot syndrome, the I1307K polymorphism of …
There are at least nine major cancer susceptibility syndromes that infer an increased risk for colorectal cancer and/or colorectal polyposis …
Genetic testing by cancer site: uterus.
Daniels MS. Daniels MS. Cancer J. 2012 Jul-Aug;18(4):338-42. doi: 10.1097/PPO.0b013e3182610cc2. Cancer J. 2012. PMID: 22846735 Review.
This review article discusses hereditary cancer predisposition syndromes with uterine manifestations. Lynch syndrome accounts for 2% to 3% of endometrial cancers. The identification of endometrial cancer patients at risk for Lynch syndrome is discussed, as are the c …
This review article discusses hereditary cancer predisposition syndromes with uterine manifestations. Lynch syndrome accounts for 2% …
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014.
Daly MB, Pilarski R, Axilbund JE, Buys SS, Crawford B, Friedman S, Garber JE, Horton C, Kaklamani V, Klein C, Kohlmann W, Kurian A, Litton J, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Pasche B, Reiser G, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wiesner GL, Dwyer MA, Kumar R; National comprehensive cancer network. Daly MB, et al. J Natl Compr Canc Netw. 2014 Sep;12(9):1326-38. doi: 10.6004/jnccn.2014.0127. J Natl Compr Canc Netw. 2014. PMID: 25190698
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian focus specifically on the assessment of genetic mutations in BRCA1/BRCA2, TP53, and PTEN, and recommend approaches to genetic testing/counseling and management strategies in individuals with …
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian focus specifically on the assessment of genetic mutations …
Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ. Boland CR, et al. Am J Gastroenterol. 2022 Jun 1;117(6):846-864. doi: 10.14309/ajg.0000000000001755. Epub 2022 Apr 26. Am J Gastroenterol. 2022. PMID: 35471415
The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PT …
The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign an …
19 results