نتایج جستجو برای: ژن pms2

تعداد نتایج: 16271  

Journal: :Pediatric blood & cancer 2009
Sumita Roy Leon Raskin Victoria M Raymond Stephen N Thibodeau Rajen J Mody Stephen B Gruber

Gastrointestinal malignancies are extremely rare in the pediatric population, and duodenal cancers represent an even more unusual entity. Intestinal cancers in young adults and children have been observed to be associated with functional deficiencies of the mismatch repair (MMR) system causing a cancer-predisposition syndrome. We report the case of a 16-year-old female with duodenal adenocarcin...

2011
Shanna Gustafson Whitney Ducaine Dana Zakalik

Background Hereditary Breast and Ovarian Cancer (HBOC) syndrome due to mutations in BRCA1 and BRCA2 is associated with an increase in risk for primarily breast cancer and ovarian cancer. Lynch syndrome (LS), due to mutations in MLH1, MSH2, MSH6, and PMS2 is typically associated with an increase in risk for chiefly colorectal cancer and endometrial cancer. Ovarian cancer risk is also increased i...

2011
Paulien P van Galen Renee Perrier Francois P Bernier

Background Turcot syndrome is clinically characterized by the occurrence of primary brain tumors, colorectal cancer and/or accompanying adenomas. It has been described as both an autosomal dominant and recessive condition and mutations in APC, MLH1, MSH2, MSH6 and PMS2 have been reported. Constitutional Mismatch repair (CMMR) deficiency is a variant of Lynch syndrome (LS) associated with bialle...

2014
Jian Jin Bowen Sui Jingxin Gou Jingshuo Liu Xing Tang Hui Xu Yu Zhang Xiangqun Jin

In this content, a small molecular ligand of prostate specific membrane antigen (SMLP) conjugated poly (caprolactone) (PCL)-b-poly (ethylene glycol) (PEG) copolymers with different block lengths were synthesized to construct a satisfactory drug delivery system. Four different docetaxel-loaded polymeric micelles (DTX-PMs) were prepared by dialysis with particle sizes less than 60 nm as character...

2013
Amy L. Masson Bente A. Talseth-Palmer Tiffany-Jane Evans Desma M. Grice Konsta Duesing Garry N. Hannan Rodney J. Scott

Hereditary non-polyposis colorectal cancer (HNPCC) is the commonest form of inherited colorectal cancer (CRC) predisposition and by definition describes families which conform to the Amsterdam Criteria or reiterations thereof. In ~50% of patients adhering to the Amsterdam criteria germline variants are identified in one of four DNA Mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Loss of ...

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